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Optic Atrophy v0.50 NBAS Zornitza Stark Gene: nbas has been classified as Green List (High Evidence).
Optic Atrophy v0.50 NBAS Zornitza Stark Classified gene: NBAS as Green List (high evidence)
Optic Atrophy v0.50 NBAS Zornitza Stark Gene: nbas has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2518 AP3B2 Zornitza Stark Marked gene: AP3B2 as ready
Intellectual disability syndromic and non-syndromic v0.2518 AP3B2 Zornitza Stark Gene: ap3b2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2518 AP3B2 Zornitza Stark Phenotypes for gene: AP3B2 were changed from to Early-onset epileptic encephalopathy with optic atrophy, MIM#617276
Intellectual disability syndromic and non-syndromic v0.2517 AP3B2 Zornitza Stark Publications for gene: AP3B2 were set to
Intellectual disability syndromic and non-syndromic v0.2516 AP3B2 Zornitza Stark Mode of inheritance for gene: AP3B2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2515 AP3B2 Zornitza Stark reviewed gene: AP3B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27889060; Phenotypes: Early-onset epileptic encephalopathy with optic atrophy, MIM#617276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.649 AP3B2 Zornitza Stark Marked gene: AP3B2 as ready
Genetic Epilepsy v0.649 AP3B2 Zornitza Stark Gene: ap3b2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.649 AP3B2 Zornitza Stark Phenotypes for gene: AP3B2 were changed from to Early-onset epileptic encephalopathy with optic atrophy, MIM#617276
Genetic Epilepsy v0.648 AP3B2 Zornitza Stark Publications for gene: AP3B2 were set to
Genetic Epilepsy v0.647 AP3B2 Zornitza Stark Mode of inheritance for gene: AP3B2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.646 AP3B2 Zornitza Stark reviewed gene: AP3B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27889060; Phenotypes: Early-onset epileptic encephalopathy with optic atrophy, MIM#617276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.49 ATAD3A Zornitza Stark Marked gene: ATAD3A as ready
Optic Atrophy v0.49 ATAD3A Zornitza Stark Added comment: Comment when marking as ready: Optic atrophy reported in individuals with the recurrent de novo missense p.Arg528Trp only at this stage.
Optic Atrophy v0.49 ATAD3A Zornitza Stark Gene: atad3a has been classified as Green List (High Evidence).
Optic Atrophy v0.49 AUH Zornitza Stark Publications for gene: AUH were set to 20855850; 30143805; 31765440; 1594352
Optic Atrophy v0.48 AUH Zornitza Stark Mode of inheritance for gene: AUH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.47 AUH Zornitza Stark Publications for gene: AUH were set to
Optic Atrophy v0.46 AP3B2 Zornitza Stark Publications for gene: AP3B2 were set to 27889060
Optic Atrophy v0.46 AP3B2 Zornitza Stark Marked gene: AP3B2 as ready
Optic Atrophy v0.46 AP3B2 Zornitza Stark Gene: ap3b2 has been classified as Green List (High Evidence).
Optic Atrophy v0.46 ATAD3A Zornitza Stark Phenotypes for gene: ATAD3A were changed from to Harel-Yoon syndrome, MIM#617183
Optic Atrophy v0.45 ATAD3A Zornitza Stark Publications for gene: ATAD3A were set to 27640307; 28652416
Optic Atrophy v0.44 NBAS Elena Savva gene: NBAS was added
gene: NBAS was added to Optic Atrophy. Sources: Expert Review
Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NBAS were set to PMID: 20577004; 26286438
Phenotypes for gene: NBAS were set to Short stature, optic nerve atrophy, and Pelger-Huet anomaly
Review for gene: NBAS was set to GREEN
Added comment: PMID: 20577004 - Study of 30 Yakut families found ALL had OA, 33/34 patients had the same homozygous missense*, founder very likely

PMID: 26286438 - 1 patient chet for a PTC and missense w/ AO. Second patient (also chet PTC/missense) had NO OA
Sources: Expert Review
Optic Atrophy v0.44 UBA5 Crystle Lee reviewed gene: UBA5: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 28965491, PMID: 27545674, PMID: 27545681; Phenotypes: Epileptic encephalopathy, early infantile, 44 (MIM#617132); Mode of inheritance: None
Optic Atrophy v0.44 AP3B2 Zornitza Stark Phenotypes for gene: AP3B2 were changed from to Early-onset epileptic encephalopathy with optic atrophy, MIM#617276
Optic Atrophy v0.43 ATAD3A Zornitza Stark Publications for gene: ATAD3A were set to
Optic Atrophy v0.43 AP3B2 Zornitza Stark Publications for gene: AP3B2 were set to
Dystonia and Chorea v0.58 ACTB Bryony Thompson reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25255767, 31970217, 28487785, 28849312, 29788902; Phenotypes: Dystonia, juvenile-onset MIM#607371; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic Atrophy v0.42 AP3B2 Zornitza Stark Mode of inheritance for gene: AP3B2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.41 ATAD3A Zornitza Stark Mode of pathogenicity for gene: ATAD3A was changed from to Other
Optic Atrophy v0.40 UCHL1 Zornitza Stark Marked gene: UCHL1 as ready
Optic Atrophy v0.40 UCHL1 Zornitza Stark Gene: uchl1 has been classified as Green List (High Evidence).
Optic Atrophy v0.40 ATAD3A Zornitza Stark Mode of inheritance for gene: ATAD3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic Atrophy v0.39 TIMM50 Zornitza Stark Mode of inheritance for gene: TIMM50 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.38 C12orf65 Zornitza Stark Marked gene: C12orf65 as ready
Optic Atrophy v0.38 C12orf65 Zornitza Stark Gene: c12orf65 has been classified as Green List (High Evidence).
Optic Atrophy v0.38 AUH Zornitza Stark Classified gene: AUH as Amber List (moderate evidence)
Optic Atrophy v0.38 AUH Zornitza Stark Gene: auh has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.37 AUH Zornitza Stark reviewed gene: AUH: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type I 250950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.37 UCHL1 Zornitza Stark Phenotypes for gene: UCHL1 were changed from to Spastic paraplegia 79, autosomal recessive (MIM#615491)
Optic Atrophy v0.37 TIMM50 Zornitza Stark Mode of inheritance for gene: TIMM50 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.36 CCDC88A Zornitza Stark Marked gene: CCDC88A as ready
Optic Atrophy v0.36 CCDC88A Zornitza Stark Gene: ccdc88a has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.36 C12orf65 Zornitza Stark Phenotypes for gene: C12orf65 were changed from to Combined oxidative phosphorylation deficiency 7; Spastic paraplegia 55, autosomal recessive
Optic Atrophy v0.35 TIMM50 Zornitza Stark Marked gene: TIMM50 as ready
Optic Atrophy v0.35 TIMM50 Zornitza Stark Gene: timm50 has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.35 C12orf65 Zornitza Stark Publications for gene: C12orf65 were set to
Optic Atrophy v0.34 C12orf65 Zornitza Stark Mode of inheritance for gene: C12orf65 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.33 UCHL1 Zornitza Stark Publications for gene: UCHL1 were set to
Optic Atrophy v0.32 MECR Zornitza Stark Marked gene: MECR as ready
Optic Atrophy v0.32 MECR Zornitza Stark Gene: mecr has been classified as Green List (High Evidence).
Optic Atrophy v0.32 UCHL1 Zornitza Stark Mode of inheritance for gene: UCHL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.31 CCDC88A Zornitza Stark Phenotypes for gene: CCDC88A were changed from PEHO syndrome-like, MIM#617507 to PEHO syndrome-like, MIM#617507
Optic Atrophy v0.30 CISD2 Zornitza Stark Marked gene: CISD2 as ready
Optic Atrophy v0.30 CISD2 Zornitza Stark Gene: cisd2 has been classified as Green List (High Evidence).
Optic Atrophy v0.30 CCDC88A Zornitza Stark Phenotypes for gene: CCDC88A were changed from to PEHO syndrome-like, MIM#617507
Optic Atrophy v0.29 CCDC88A Zornitza Stark Marked gene: CCDC88A as ready
Optic Atrophy v0.29 CCDC88A Zornitza Stark Added comment: Comment when marking as ready: Two families and a mouse model; only one family reported with OA.
Optic Atrophy v0.29 CCDC88A Zornitza Stark Gene: ccdc88a has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.29 CCDC88A Zornitza Stark Publications for gene: CCDC88A were set to
Optic Atrophy v0.28 CCDC88A Zornitza Stark Mode of inheritance for gene: CCDC88A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.27 CCDC88A Zornitza Stark Classified gene: CCDC88A as Amber List (moderate evidence)
Optic Atrophy v0.27 CCDC88A Zornitza Stark Gene: ccdc88a has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.26 CISD2 Zornitza Stark Phenotypes for gene: CISD2 were changed from Wolfram syndrome 2, MIM#604928 to Wolfram syndrome 2, MIM#604928
Optic Atrophy v0.26 MECR Zornitza Stark Phenotypes for gene: MECR were changed from Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
Optic Atrophy v0.25 TIMM50 Zornitza Stark Phenotypes for gene: TIMM50 were changed from 3-methylglutaconic aciduria, type IX (MIM#617698) to 3-methylglutaconic aciduria, type IX (MIM#617698)
Optic Atrophy v0.25 SLC25A46 Zornitza Stark Marked gene: SLC25A46 as ready
Optic Atrophy v0.25 SLC25A46 Zornitza Stark Gene: slc25a46 has been classified as Green List (High Evidence).
Optic Atrophy v0.25 TIMM50 Zornitza Stark Phenotypes for gene: TIMM50 were changed from to 3-methylglutaconic aciduria, type IX (MIM#617698)
Optic Atrophy v0.24 TIMM50 Zornitza Stark Publications for gene: TIMM50 were set to
Optic Atrophy v0.23 TIMM50 Zornitza Stark Classified gene: TIMM50 as Amber List (moderate evidence)
Optic Atrophy v0.23 TIMM50 Zornitza Stark Gene: timm50 has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.22 SLC25A46 Zornitza Stark Phenotypes for gene: SLC25A46 were changed from to Neuropathy, hereditary motor and sensory, type VIB (MIM#616505)
Optic Atrophy v0.22 MECR Zornitza Stark Phenotypes for gene: MECR were changed from to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
Optic Atrophy v0.22 CISD2 Zornitza Stark Phenotypes for gene: CISD2 were changed from to Wolfram syndrome 2, MIM#604928
Optic Atrophy v0.21 SLC25A46 Zornitza Stark Publications for gene: SLC25A46 were set to
Optic Atrophy v0.20 SLC25A46 Zornitza Stark Mode of inheritance for gene: SLC25A46 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Dystonia and Chorea v0.58 MECR Elena Savva gene: MECR was added
gene: MECR was added to Dystonia - complex. Sources: Expert Review
Mode of inheritance for gene: MECR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MECR were set to PMID: 27817865; 31137067
Phenotypes for gene: MECR were set to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
Review for gene: MECR was set to GREEN
Added comment: PMID: 27817865 - 4/5 families w/ bilallelic variants reported w/ dystonia with variable features

PMID: 31137067 - 1 patient w/ chet missense/PTCs and dystonia with variable features
Sources: Expert Review
Optic Atrophy v0.19 CISD2 Zornitza Stark Publications for gene: CISD2 were set to
Optic Atrophy v0.18 NDUFS1 Zornitza Stark Marked gene: NDUFS1 as ready
Optic Atrophy v0.18 NDUFS1 Zornitza Stark Gene: ndufs1 has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.18 CISD2 Zornitza Stark Mode of inheritance for gene: CISD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.17 MECR Zornitza Stark Publications for gene: MECR were set to
Optic Atrophy v0.16 MECR Zornitza Stark Mode of inheritance for gene: MECR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.15 NDUFS1 Zornitza Stark Phenotypes for gene: NDUFS1 were changed from to Mitochondrial complex I deficiency, nuclear type 5, 618226
Optic Atrophy v0.14 NDUFS1 Zornitza Stark Publications for gene: NDUFS1 were set to
Optic Atrophy v0.13 NDUFS1 Zornitza Stark Mode of inheritance for gene: NDUFS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.12 NDUFS1 Zornitza Stark Classified gene: NDUFS1 as Amber List (moderate evidence)
Optic Atrophy v0.12 NDUFS1 Zornitza Stark Gene: ndufs1 has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.11 NDUFS1 Elena Savva reviewed gene: NDUFS1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 11349233, 24952175, 22200994, 21203893; Phenotypes: Mitochondrial complex I deficiency, nuclear type 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.11 MECR Elena Savva reviewed gene: MECR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27817865, 31137067; Phenotypes: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.6 BLOC1S6 Zornitza Stark Marked gene: BLOC1S6 as ready
Ocular and Oculocutaneous Albinism v0.6 BLOC1S6 Zornitza Stark Gene: bloc1s6 has been classified as Amber List (Moderate Evidence).
Ocular and Oculocutaneous Albinism v0.6 BLOC1S6 Zornitza Stark Phenotypes for gene: BLOC1S6 were changed from to Hermansky-Pudlak syndrome 9, MIM# 614171
Ocular and Oculocutaneous Albinism v0.5 BLOC1S6 Zornitza Stark Publications for gene: BLOC1S6 were set to
Ocular and Oculocutaneous Albinism v0.4 BLOC1S6 Zornitza Stark Mode of inheritance for gene: BLOC1S6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.11 CISD2 Elena Savva reviewed gene: CISD2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19451219, 25056293, 28335035, 31391115, 25371195; Phenotypes: Wolfram syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.11 SLC25A46 Crystle Lee reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26168012, PMID: 28376086; Phenotypes: Neuropathy, hereditary motor and sensory, type VIB (MIM#616505); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2045 MIR140 Zornitza Stark Marked gene: MIR140 as ready
Mendeliome v0.2045 MIR140 Zornitza Stark Gene: mir140 has been classified as Green List (High Evidence).
Mendeliome v0.2045 MIR140 Zornitza Stark Classified gene: MIR140 as Green List (high evidence)
Mendeliome v0.2045 MIR140 Zornitza Stark Gene: mir140 has been classified as Green List (High Evidence).
Mendeliome v0.2044 MIR140 Zornitza Stark gene: MIR140 was added
gene: MIR140 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: MIR140 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MIR140 were set to 30804514; 31633310
Phenotypes for gene: MIR140 were set to Spondyloepiphyseal dysplasia, Nishimura type, MIM# 618618
Review for gene: MIR140 was set to GREEN
Added comment: Single clinical paper (30804514) reports variant in affected mother and child (de novo in mother) and in a separate unrelated female (de novo) with spondylo-epiphyseal dysplasia. Mouse model (21576357) deletion of gene causes impaired longitudinal bone growth. Separate mouse model studies by same authors as clinical paper above (30804514) showed phenotype of mice with same mutation in this gene consistent with the skeletal dysplasia features of patients with the n.24A-G mutation, suggestive of neomorphic effects (mutation produces both loss-of-function and gain-of-function effects.)
Sources: Expert Review
Skeletal dysplasia v0.13 MIR140 Zornitza Stark Marked gene: MIR140 as ready
Skeletal dysplasia v0.13 MIR140 Zornitza Stark Gene: mir140 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.13 MIR140 Zornitza Stark Phenotypes for gene: MIR140 were changed from 618618 to Spondyloepiphyseal dysplasia, Nishimura type, MIM# 618618
Skeletal dysplasia v0.12 MIR140 Zornitza Stark Classified gene: MIR140 as Green List (high evidence)
Skeletal dysplasia v0.12 MIR140 Zornitza Stark Gene: mir140 has been classified as Green List (High Evidence).
Optic Atrophy v0.11 TIMM50 Crystle Lee reviewed gene: TIMM50: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27573165, PMID: 31058414; Phenotypes: 3-methylglutaconic aciduria, type IX (MIM#617698); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.11 MIR140 Chris Richmond gene: MIR140 was added
gene: MIR140 was added to Skeletal dysplasia. Sources: Expert Review
Mode of inheritance for gene: MIR140 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MIR140 were set to 30804514; 31633310
Phenotypes for gene: MIR140 were set to 618618
Penetrance for gene: MIR140 were set to unknown
Mode of pathogenicity for gene: MIR140 was set to Other
Review for gene: MIR140 was set to GREEN
Added comment: Single clinical paper (30804514) reports variant in affected mother and child (de novo in mother) and in a separate unrelated female (de novo) with spondylo-epiphyseal dysplasia. Mouse model (21576357) deletion of gene causes impaired longitudinal bone growth. Separate mouse model studies by same authors as clinical paper above (30804514) showed phenotype of mice with same mutation in this gene consistent with the skeletal dysplasia features of patients with the n.24A-G mutation, suggestive of neomorphic effects (mutation produces both loss-of-function and gain-of-function effects.)
Sources: Expert Review
Optic Atrophy v0.11 CCDC88A Elena Savva reviewed gene: CCDC88A: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 26917597, 30392057, 28899015; Phenotypes: ?PEHO syndrome-like; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.11 UCHL1 Crystle Lee reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29735986, PMID: 23359680, PMID: 28007905; Phenotypes: Spastic paraplegia 79, autosomal recessive (MIM#615491); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.11 C12orf65 Elena Savva reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20598281, 23188110, 24198383; Phenotypes: Combined oxidative phosphorylation deficiency 7, Spastic paraplegia 55, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.11 AUH Elena Savva reviewed gene: AUH: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 20855850, 30143805, 31765440, 1594352; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.3 BLOC1S6 Zornitza Stark Classified gene: BLOC1S6 as Amber List (moderate evidence)
Ocular and Oculocutaneous Albinism v0.3 BLOC1S6 Zornitza Stark Gene: bloc1s6 has been classified as Amber List (Moderate Evidence).
Ocular and Oculocutaneous Albinism v0.2 BLOC1S6 Zornitza Stark reviewed gene: BLOC1S6: Rating: AMBER; Mode of pathogenicity: None; Publications: 22461475, 21665000, 32245340; Phenotypes: Hermansky-Pudlak syndrome 9, MIM# 614171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.49 BLOC1S6 Zornitza Stark Marked gene: BLOC1S6 as ready
Disorders of immune dysregulation v0.49 BLOC1S6 Zornitza Stark Gene: bloc1s6 has been classified as Red List (Low Evidence).
Disorders of immune dysregulation v0.49 BLOC1S6 Zornitza Stark Phenotypes for gene: BLOC1S6 were changed from to Hermansky-Pudlak syndrome 9, MIM# 614171
Disorders of immune dysregulation v0.48 BLOC1S6 Zornitza Stark Publications for gene: BLOC1S6 were set to
Disorders of immune dysregulation v0.47 BLOC1S6 Zornitza Stark Mode of inheritance for gene: BLOC1S6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.46 BLOC1S6 Zornitza Stark Classified gene: BLOC1S6 as Red List (low evidence)
Disorders of immune dysregulation v0.46 BLOC1S6 Zornitza Stark Gene: bloc1s6 has been classified as Red List (Low Evidence).
Disorders of immune dysregulation v0.45 BLOC1S6 Zornitza Stark reviewed gene: BLOC1S6: Rating: RED; Mode of pathogenicity: None; Publications: 22461475, 21665000; Phenotypes: Hermansky-Pudlak syndrome 9, MIM# 614171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2043 BCL10 Zornitza Stark reviewed gene: BCL10: Rating: GREEN; Mode of pathogenicity: None; Publications: 25365219, 32008135, 11163238, 12910267; Phenotypes: Immunodeficiency 37, MIM# 616098; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.105 BCL10 Zornitza Stark Marked gene: BCL10 as ready
Combined Immunodeficiency v0.105 BCL10 Zornitza Stark Gene: bcl10 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.105 BCL10 Zornitza Stark Phenotypes for gene: BCL10 were changed from to Immunodeficiency 37, MIM# 616098
Combined Immunodeficiency v0.104 BCL10 Zornitza Stark Publications for gene: BCL10 were set to
Combined Immunodeficiency v0.103 BCL10 Zornitza Stark Mode of inheritance for gene: BCL10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.102 BCL10 Zornitza Stark reviewed gene: BCL10: Rating: GREEN; Mode of pathogenicity: None; Publications: 25365219, 32008135, 11163238, 12910267; Phenotypes: Immunodeficiency 37, MIM# 616098; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.11 ATAD3A Elena Savva reviewed gene: ATAD3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 27640307, 28652416; Phenotypes: Harel-Yoon syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.2043 APOL1 Zornitza Stark Mode of inheritance for gene: APOL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2042 APOL1 Zornitza Stark Phenotypes for gene: APOL1 were changed from to {Glomerulosclerosis, focal segmental, 4, susceptibility to} 612551
Mendeliome v0.2041 APOL1 Zornitza Stark Publications for gene: APOL1 were set to
Mendeliome v0.2040 APOL1 Zornitza Stark Classified gene: APOL1 as Red List (low evidence)
Mendeliome v0.2040 APOL1 Zornitza Stark Gene: apol1 has been classified as Red List (Low Evidence).
Mendeliome v0.2039 APOL1 Zornitza Stark reviewed gene: APOL1: Rating: RED; Mode of pathogenicity: None; Publications: 29470556, 20647424, 24206458, 20635188; Phenotypes: {Glomerulosclerosis, focal segmental, 4, susceptibility to} 612551; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Defects of intrinsic and innate immunity v0.21 APOL1 Zornitza Stark Marked gene: APOL1 as ready
Defects of intrinsic and innate immunity v0.21 APOL1 Zornitza Stark Gene: apol1 has been classified as Red List (Low Evidence).
Defects of intrinsic and innate immunity v0.21 APOL1 Zornitza Stark Phenotypes for gene: APOL1 were changed from to {Glomerulosclerosis, focal segmental, 4, susceptibility to} 612551
Optic Atrophy v0.11 AP3B2 Elena Savva reviewed gene: AP3B2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27889060; Phenotypes: Early-onset epileptic encephalopathy with optic atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.20 APOL1 Zornitza Stark Mode of inheritance for gene: APOL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Defects of intrinsic and innate immunity v0.19 APOL1 Zornitza Stark Classified gene: APOL1 as Red List (low evidence)
Defects of intrinsic and innate immunity v0.19 APOL1 Zornitza Stark Gene: apol1 has been classified as Red List (Low Evidence).
Defects of intrinsic and innate immunity v0.18 APOL1 Zornitza Stark reviewed gene: APOL1: Rating: RED; Mode of pathogenicity: None; Publications: 29470556; Phenotypes: {Glomerulosclerosis, focal segmental, 4, susceptibility to} 612551; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2039 AP1S3 Zornitza Stark Marked gene: AP1S3 as ready
Mendeliome v0.2039 AP1S3 Zornitza Stark Gene: ap1s3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2039 AP1S3 Zornitza Stark Phenotypes for gene: AP1S3 were changed from to {Psoriasis 15, pustular, susceptibility to} 616106
Mendeliome v0.2038 AP1S3 Zornitza Stark Publications for gene: AP1S3 were set to
Mendeliome v0.2037 AP1S3 Zornitza Stark Mode of inheritance for gene: AP1S3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2036 AP1S3 Zornitza Stark Classified gene: AP1S3 as Amber List (moderate evidence)
Mendeliome v0.2036 AP1S3 Zornitza Stark Gene: ap1s3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2035 AP1S3 Zornitza Stark reviewed gene: AP1S3: Rating: AMBER; Mode of pathogenicity: None; Publications: 24791904, 27388993; Phenotypes: {Psoriasis 15, pustular, susceptibility to} 616106; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.48 AP1S3 Zornitza Stark Marked gene: AP1S3 as ready
Autoinflammatory Disorders v0.48 AP1S3 Zornitza Stark Gene: ap1s3 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.48 AP1S3 Zornitza Stark Phenotypes for gene: AP1S3 were changed from to {Psoriasis 15, pustular, susceptibility to} 616106
Autoinflammatory Disorders v0.47 AP1S3 Zornitza Stark Publications for gene: AP1S3 were set to 24791904; 27388993
Autoinflammatory Disorders v0.47 AP1S3 Zornitza Stark Publications for gene: AP1S3 were set to
Autoinflammatory Disorders v0.46 AP1S3 Zornitza Stark Mode of inheritance for gene: AP1S3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.45 AP1S3 Zornitza Stark Classified gene: AP1S3 as Amber List (moderate evidence)
Autoinflammatory Disorders v0.45 AP1S3 Zornitza Stark Gene: ap1s3 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.44 AP1S3 Zornitza Stark reviewed gene: AP1S3: Rating: AMBER; Mode of pathogenicity: None; Publications: 24791904, 27388993; Phenotypes: {Psoriasis 15, pustular, susceptibility to} 616106; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inflammatory bowel disease v0.13 ADAM17 Zornitza Stark Marked gene: ADAM17 as ready
Inflammatory bowel disease v0.13 ADAM17 Zornitza Stark Gene: adam17 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.13 ADAM17 Zornitza Stark Classified gene: ADAM17 as Green List (high evidence)
Inflammatory bowel disease v0.13 ADAM17 Zornitza Stark Gene: adam17 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.12 ADAM17 Zornitza Stark gene: ADAM17 was added
gene: ADAM17 was added to Inflammatory bowel disease. Sources: Expert Review
Mode of inheritance for gene: ADAM17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAM17 were set to 22010916; 29560122; 26683521; 25804906
Phenotypes for gene: ADAM17 were set to Inflammatory skin and bowel disease, neonatal, 1, MIM# 614328; Recurrent infections
Review for gene: ADAM17 was set to GREEN
Added comment: Three unrelated families reported, inflammatory bowel disease was prominent in two; support from mouse model.
Sources: Expert Review
Autoinflammatory Disorders v0.44 ADAM17 Zornitza Stark Marked gene: ADAM17 as ready
Autoinflammatory Disorders v0.44 ADAM17 Zornitza Stark Gene: adam17 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.44 ADAM17 Zornitza Stark Phenotypes for gene: ADAM17 were changed from to Inflammatory skin and bowel disease, neonatal, 1, MIM# 614328; Recurrent infections
Autoinflammatory Disorders v0.43 ADAM17 Zornitza Stark Publications for gene: ADAM17 were set to
Autoinflammatory Disorders v0.42 ADAM17 Zornitza Stark Mode of inheritance for gene: ADAM17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.41 ADAM17 Zornitza Stark reviewed gene: ADAM17: Rating: GREEN; Mode of pathogenicity: None; Publications: 22010916, 29560122, 26683521, 25804906; Phenotypes: Inflammatory skin and bowel disease, neonatal, 1, MIM# 614328, Recurrent infections; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.32 ACTB Zornitza Stark Marked gene: ACTB as ready
Phagocyte Defects v0.32 ACTB Zornitza Stark Gene: actb has been classified as Amber List (Moderate Evidence).
Phagocyte Defects v0.32 ACTB Zornitza Stark Phenotypes for gene: ACTB were changed from to Baraitser-Winter syndrome 1, MIM# 243310
Phagocyte Defects v0.31 ACTB Zornitza Stark Mode of inheritance for gene: ACTB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phagocyte Defects v0.30 ACTB Zornitza Stark Classified gene: ACTB as Amber List (moderate evidence)
Phagocyte Defects v0.30 ACTB Zornitza Stark Gene: actb has been classified as Amber List (Moderate Evidence).
Phagocyte Defects v0.29 ACTB Zornitza Stark reviewed gene: ACTB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Baraitser-Winter syndrome 1, MIM# 243310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Familial hypercholesterolaemia v0.7 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Hereditary Spastic Paraplegia v0.7 Bryony Thompson Panel name changed from Hereditary Spastic Paraplegia - paediatric_RMH to Hereditary Spastic Paraplegia - paediatric
Panel types changed to Royal Melbourne Hospital; Rare Disease
Gastrointestinal neuromuscular disease v0.1 Bryony Thompson Panel name changed from Visceral Myopathy_RMH to Visceral Myopathy
Panel status changed from internal to public
Panel types changed to Royal Melbourne Hospital; Rare Disease
Congenital Stationary Night Blindness v0.1 Bryony Thompson Panel name changed from Congenital Stationary Night Blindness_RMH to Congenital Stationary Night Blindness
Cataract v0.107 TMEM70 Bryony Thompson Marked gene: TMEM70 as ready
Cataract v0.107 TMEM70 Bryony Thompson Gene: tmem70 has been classified as Amber List (Moderate Evidence).
Cataract v0.107 TMEM70 Bryony Thompson Classified gene: TMEM70 as Amber List (moderate evidence)
Cataract v0.107 TMEM70 Bryony Thompson Gene: tmem70 has been classified as Amber List (Moderate Evidence).
Cataract v0.106 TMEM70 Bryony Thompson gene: TMEM70 was added
gene: TMEM70 was added to Cataract. Sources: Expert list
Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM70 were set to 21147908; 23235116; 27454254
Phenotypes for gene: TMEM70 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 MIM#614052
Review for gene: TMEM70 was set to AMBER
Added comment: Four cases from three unrelated consanguineous families with two different variants, with cataracts as a feature of the condition.
Sources: Expert list
Phagocyte Defects v0.29 CFTR Zornitza Stark Marked gene: CFTR as ready
Phagocyte Defects v0.29 CFTR Zornitza Stark Gene: cftr has been classified as Green List (High Evidence).
Phagocyte Defects v0.29 CFTR Zornitza Stark Classified gene: CFTR as Green List (high evidence)
Phagocyte Defects v0.29 CFTR Zornitza Stark Gene: cftr has been classified as Green List (High Evidence).
Phagocyte Defects v0.28 CFTR Zornitza Stark gene: CFTR was added
gene: CFTR was added to Phagocyte Defects. Sources: Expert list
Mode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFTR were set to Cystic fibrosis, MIM# 219700
Review for gene: CFTR was set to GREEN
Added comment: Although CF is mostly detected through newborn screening, some adults with milder phenotypes can present with recurrent respiratory infections.
Sources: Expert list
Dystonia and Chorea v0.58 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Cataract v0.105 TTC37 Bryony Thompson Marked gene: TTC37 as ready
Cataract v0.105 TTC37 Bryony Thompson Gene: ttc37 has been classified as Red List (Low Evidence).
Cataract v0.105 TTC37 Bryony Thompson Classified gene: TTC37 as Red List (low evidence)
Cataract v0.105 TTC37 Bryony Thompson Gene: ttc37 has been classified as Red List (Low Evidence).
Cataract v0.104 TTC37 Bryony Thompson reviewed gene: TTC37: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Trichohepatoenteric syndrome 1 MIM#222470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2035 KCNT2 Zornitza Stark Phenotypes for gene: KCNT2 were changed from Epileptic encephalopathy, early infantile, 57, MIM#617771; Developmental and epileptic encephalopathy to Epileptic encephalopathy, early infantile, 57, MIM#617771; Developmental and epileptic encephalopathy; Epilepsy of infancy with migrating focal seizures (EIMFS)
Mendeliome v0.2034 KCNT2 Zornitza Stark Publications for gene: KCNT2 were set to 29069600; 29740868
Usher Syndrome v0.7 USH2A Zornitza Stark Marked gene: USH2A as ready
Usher Syndrome v0.7 USH2A Zornitza Stark Gene: ush2a has been classified as Green List (High Evidence).
Usher Syndrome v0.7 USH2A Zornitza Stark Publications for gene: USH2A were set to
Cataract v0.104 WAS Bryony Thompson Marked gene: WAS as ready
Cataract v0.104 WAS Bryony Thompson Gene: was has been classified as Red List (Low Evidence).
Cataract v0.104 WAS Bryony Thompson Classified gene: WAS as Red List (low evidence)
Cataract v0.104 WAS Bryony Thompson Gene: was has been classified as Red List (Low Evidence).
Cataract v0.103 WAS Bryony Thompson reviewed gene: WAS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Wiskott-Aldrich syndrome MIM#301000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cataract v0.103 XIAP Bryony Thompson Marked gene: XIAP as ready
Cataract v0.103 XIAP Bryony Thompson Gene: xiap has been classified as Red List (Low Evidence).
Cataract v0.103 XIAP Bryony Thompson Classified gene: XIAP as Red List (low evidence)
Cataract v0.103 XIAP Bryony Thompson Gene: xiap has been classified as Red List (Low Evidence).
Cataract v0.102 XIAP Bryony Thompson reviewed gene: XIAP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lymphoproliferative syndrome, X-linked, 2 MIM#300635; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cataract v0.102 ZAP70 Bryony Thompson Marked gene: ZAP70 as ready
Cataract v0.102 ZAP70 Bryony Thompson Gene: zap70 has been classified as Red List (Low Evidence).
Cataract v0.102 ZAP70 Bryony Thompson Classified gene: ZAP70 as Red List (low evidence)
Cataract v0.102 ZAP70 Bryony Thompson Gene: zap70 has been classified as Red List (Low Evidence).
Cataract v0.101 ZAP70 Bryony Thompson reviewed gene: ZAP70: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoimmune disease, multisystem, infantile-onset, 2 MIM#617006, Immunodeficiency 48 MIM#269840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Usher Syndrome v0.6 USH2A Chern Lim reviewed gene: USH2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26927203, 22135276; Phenotypes: Retinitis pigmentosa 39, MIM#613809, Usher syndrome, type 2A, MIM#276901; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Macrocystic Disease v0.25 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; KidGen; Royal Melbourne Hospital; Rare Disease
Mendeliome v0.2033 KCNT2 Kristin Rigbye reviewed gene: KCNT2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29069600, 29740868, 32038177; Phenotypes: Epileptic encephalopathy, early infantile, 57, 617771, Epilepsy of infancy with migrating focal seizures (EIMFS); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.4 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Cataract v0.101 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Cataract v0.100 BTK Zornitza Stark Marked gene: BTK as ready
Cataract v0.100 BTK Zornitza Stark Gene: btk has been classified as Red List (Low Evidence).
Cataract v0.100 BTK Zornitza Stark Phenotypes for gene: BTK were changed from to X-linked agammaglobulinemia; isolated growth hormone deficiency type III with agammaglobulinemia
Cataract v0.99 BTK Zornitza Stark Mode of inheritance for gene: BTK was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cataract v0.98 BTK Zornitza Stark Classified gene: BTK as Red List (low evidence)
Cataract v0.98 BTK Zornitza Stark Gene: btk has been classified as Red List (Low Evidence).
Cataract v0.97 HPS1 Zornitza Stark Marked gene: HPS1 as ready
Cataract v0.97 HPS1 Zornitza Stark Gene: hps1 has been classified as Amber List (Moderate Evidence).
Cataract v0.97 HPS1 Zornitza Stark Phenotypes for gene: HPS1 were changed from to Hermansky-Pudlak syndrome 1 (203300)
Cataract v0.96 HPS1 Zornitza Stark Publications for gene: HPS1 were set to
Cataract v0.95 HPS1 Zornitza Stark Mode of inheritance for gene: HPS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.94 HPS1 Zornitza Stark Classified gene: HPS1 as Amber List (moderate evidence)
Cataract v0.94 HPS1 Zornitza Stark Gene: hps1 has been classified as Amber List (Moderate Evidence).
Cataract v0.93 HPS4 Zornitza Stark Marked gene: HPS4 as ready
Cataract v0.93 HPS4 Zornitza Stark Gene: hps4 has been classified as Amber List (Moderate Evidence).
Cataract v0.93 HPS4 Zornitza Stark Phenotypes for gene: HPS4 were changed from to Hermansky-Pudlak syndrome 4 (614073)
Cataract v0.92 HPS4 Zornitza Stark Publications for gene: HPS4 were set to
Cataract v0.91 HPS4 Zornitza Stark Mode of inheritance for gene: HPS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.90 HPS4 Zornitza Stark Classified gene: HPS4 as Amber List (moderate evidence)
Cataract v0.90 HPS4 Zornitza Stark Gene: hps4 has been classified as Amber List (Moderate Evidence).
Cataract v0.89 HPS6 Zornitza Stark Marked gene: HPS6 as ready
Cataract v0.89 HPS6 Zornitza Stark Gene: hps6 has been classified as Amber List (Moderate Evidence).
Cataract v0.89 HPS6 Zornitza Stark Phenotypes for gene: HPS6 were changed from to Hermansky-Pudlak syndrome 6 (614075)
Cataract v0.88 HPS6 Zornitza Stark Publications for gene: HPS6 were set to
Cataract v0.87 HPS6 Zornitza Stark Mode of inheritance for gene: HPS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.86 HPS6 Zornitza Stark Classified gene: HPS6 as Amber List (moderate evidence)
Cataract v0.86 HPS6 Zornitza Stark Gene: hps6 has been classified as Amber List (Moderate Evidence).
Cataract v0.85 HTRA2 Zornitza Stark Marked gene: HTRA2 as ready
Cataract v0.85 HTRA2 Zornitza Stark Gene: htra2 has been classified as Green List (High Evidence).
Cataract v0.85 HTRA2 Zornitza Stark Classified gene: HTRA2 as Green List (high evidence)
Cataract v0.85 HTRA2 Zornitza Stark Gene: htra2 has been classified as Green List (High Evidence).
Cataract v0.84 ICOS Zornitza Stark Marked gene: ICOS as ready
Cataract v0.84 ICOS Zornitza Stark Gene: icos has been classified as Red List (Low Evidence).
Cataract v0.84 ICOS Zornitza Stark Phenotypes for gene: ICOS were changed from to Common variable immunodeficiency 1 (604558)
Cataract v0.83 ICOS Zornitza Stark Mode of inheritance for gene: ICOS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.82 ICOS Zornitza Stark Classified gene: ICOS as Red List (low evidence)
Cataract v0.82 ICOS Zornitza Stark Gene: icos has been classified as Red List (Low Evidence).
Cataract v0.81 IKBKG Zornitza Stark Marked gene: IKBKG as ready
Cataract v0.81 IKBKG Zornitza Stark Gene: ikbkg has been classified as Amber List (Moderate Evidence).
Cataract v0.81 IKBKG Zornitza Stark Phenotypes for gene: IKBKG were changed from to Incontinentia pigmenti (308300); / Ectodermal dysplasia and immunodeficiency 1 (300291); Ectodermal dysplasia, anhidrotic, lymphoedema and immunodeficiency (300301); Immunodeficiency 33 (300636); Immunodeficiency, isolated (300584); Invasive pneumococcal disease, recurrent isolated 2 (300640)
Cataract v0.80 IKBKG Zornitza Stark Publications for gene: IKBKG were set to
Cataract v0.79 IKBKG Zornitza Stark Mode of inheritance for gene: IKBKG was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Cataract v0.78 IKBKG Zornitza Stark Classified gene: IKBKG as Amber List (moderate evidence)
Cataract v0.78 IKBKG Zornitza Stark Gene: ikbkg has been classified as Amber List (Moderate Evidence).
Cataract v0.77 IL10 Zornitza Stark Marked gene: IL10 as ready
Cataract v0.77 IL10 Zornitza Stark Gene: il10 has been classified as Red List (Low Evidence).
Cataract v0.77 IL10 Zornitza Stark Classified gene: IL10 as Red List (low evidence)
Cataract v0.77 IL10 Zornitza Stark Gene: il10 has been classified as Red List (Low Evidence).
Cataract v0.76 IL10RA Zornitza Stark Marked gene: IL10RA as ready
Cataract v0.76 IL10RA Zornitza Stark Gene: il10ra has been classified as Red List (Low Evidence).
Cataract v0.76 IL10RA Zornitza Stark Phenotypes for gene: IL10RA were changed from to Inflammatory bowel disease 28, early onset (613148)
Cataract v0.75 IL10RA Zornitza Stark Mode of inheritance for gene: IL10RA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.74 IL10RA Zornitza Stark Classified gene: IL10RA as Red List (low evidence)
Cataract v0.74 IL10RA Zornitza Stark Gene: il10ra has been classified as Red List (Low Evidence).
Mendeliome v0.2033 PIEZO1 Zornitza Stark Marked gene: PIEZO1 as ready
Mendeliome v0.2033 PIEZO1 Zornitza Stark Gene: piezo1 has been classified as Green List (High Evidence).
Mendeliome v0.2033 PIEZO1 Zornitza Stark Publications for gene: PIEZO1 were set to
Mendeliome v0.2032 PIEZO1 Zornitza Stark Phenotypes for gene: PIEZO1 were changed from to Lymphatic malformation 6, 616843; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380
Mendeliome v0.2031 PIEZO1 Zornitza Stark Mode of pathogenicity for gene: PIEZO1 was changed from to Other
Mendeliome v0.2030 PIEZO1 Zornitza Stark Mode of inheritance for gene: PIEZO1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2029 TBX19 Zornitza Stark Marked gene: TBX19 as ready
Mendeliome v0.2029 TBX19 Zornitza Stark Gene: tbx19 has been classified as Green List (High Evidence).
Mendeliome v0.2029 TBX19 Zornitza Stark Phenotypes for gene: TBX19 were changed from to Adrenocorticotropic hormone deficiency, 201400
Mendeliome v0.2028 TBX19 Zornitza Stark Publications for gene: TBX19 were set to
Mendeliome v0.2027 TBX19 Zornitza Stark Mode of inheritance for gene: TBX19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.73 IL10RB Zornitza Stark Marked gene: IL10RB as ready
Cataract v0.73 IL10RB Zornitza Stark Gene: il10rb has been classified as Red List (Low Evidence).
Cataract v0.73 IL10RB Zornitza Stark Phenotypes for gene: IL10RB were changed from to Inflammatory bowel disease 25, early onset (612567)
Cataract v0.72 IL10RB Zornitza Stark Mode of inheritance for gene: IL10RB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.71 IL10RB Zornitza Stark Classified gene: IL10RB as Red List (low evidence)
Cataract v0.71 IL10RB Zornitza Stark Gene: il10rb has been classified as Red List (Low Evidence).
Cataract v0.70 IL2RG Zornitza Stark Marked gene: IL2RG as ready
Cataract v0.70 IL2RG Zornitza Stark Gene: il2rg has been classified as Red List (Low Evidence).
Cataract v0.70 IL2RG Zornitza Stark Phenotypes for gene: IL2RG were changed from to Severe combined immunodeficiency, X-linked (300400); Moderate combined immunodeficiency, X-linked (312863)
Cataract v0.69 IL2RG Zornitza Stark Mode of inheritance for gene: IL2RG was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cataract v0.68 IL2RG Zornitza Stark Classified gene: IL2RG as Red List (low evidence)
Cataract v0.68 IL2RG Zornitza Stark Gene: il2rg has been classified as Red List (Low Evidence).
Haem degradation and bilirubin metabolism defects v0.1 Bryony Thompson Panel name changed from Porphyria_RMH to Porphyria
Panel status changed from internal to public
Panel types changed to Royal Melbourne Hospital; Rare Disease
Overgrowth v0.19 TCF20 Zornitza Stark Marked gene: TCF20 as ready
Overgrowth v0.19 TCF20 Zornitza Stark Gene: tcf20 has been classified as Amber List (Moderate Evidence).
Overgrowth v0.19 TCF20 Zornitza Stark Phenotypes for gene: TCF20 were changed from to Developmental delay with variable intellectual impairment and behavioral abnormalities, AD, MIM#618430
Overgrowth v0.18 TCF20 Zornitza Stark Publications for gene: TCF20 were set to
Overgrowth v0.17 TCF20 Zornitza Stark Mode of inheritance for gene: TCF20 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.16 TCF20 Zornitza Stark Classified gene: TCF20 as Amber List (moderate evidence)
Overgrowth v0.16 TCF20 Zornitza Stark Gene: tcf20 has been classified as Amber List (Moderate Evidence).
Overgrowth v0.15 TCF20 Zornitza Stark reviewed gene: TCF20: Rating: AMBER; Mode of pathogenicity: None; Publications: 30739909, 30819258, 25228304; Phenotypes: Developmental delay with variable intellectual impairment and behavioral abnormalities, AD, MIM#618430; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2515 TCF20 Zornitza Stark Marked gene: TCF20 as ready
Intellectual disability syndromic and non-syndromic v0.2515 TCF20 Zornitza Stark Gene: tcf20 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.57 XK Bryony Thompson Marked gene: XK as ready
Dystonia and Chorea v0.57 XK Bryony Thompson Gene: xk has been classified as Green List (High Evidence).
Dystonia and Chorea v0.57 XK Bryony Thompson Classified gene: XK as Green List (high evidence)
Dystonia and Chorea v0.57 XK Bryony Thompson Gene: xk has been classified as Green List (High Evidence).
Dystonia and Chorea v0.56 XK Bryony Thompson gene: XK was added
gene: XK was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: XK was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: XK were set to 11761473
Phenotypes for gene: XK were set to McLeod syndrome with or without chronic granulomatous disease MIM#300842
Review for gene: XK was set to GREEN
Added comment: 5 out of 13 cases had dystonia as a feature of the condition.
Sources: Expert list
Dystonia and Chorea v0.55 VPS37A Bryony Thompson gene: VPS37A was added
gene: VPS37A was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: VPS37A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS37A were set to 22717650
Phenotypes for gene: VPS37A were set to Spastic paraplegia 53, autosomal recessive MIM#614898
Review for gene: VPS37A was set to RED
Added comment: Single consanguineous Arab Moslem kindred with dystonia as a feature of the condition.
Sources: Expert list
Dystonia and Chorea v0.54 UNC80 Bryony Thompson gene: UNC80 was added
gene: UNC80 was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: UNC80 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UNC80 were set to 26545877
Phenotypes for gene: UNC80 were set to hypotonia; severe intellectual disability; dyskinesia; dysmorphism
Review for gene: UNC80 was set to RED
Added comment: Two consanguineous Bedouin Israeli families homozygous for the same variantc.151C>T, p.(R51*) with dystonia as a feature of the condition. No other reported evidence for dystonia in the context of this condition.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2515 TCF20 Zornitza Stark Phenotypes for gene: TCF20 were changed from to Developmental delay with variable intellectual impairment and behavioral abnormalities, AD, MIM#618430
Intellectual disability syndromic and non-syndromic v0.2514 TCF20 Zornitza Stark Publications for gene: TCF20 were set to
Intellectual disability syndromic and non-syndromic v0.2513 TCF20 Zornitza Stark Mode of inheritance for gene: TCF20 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2512 TCF20 Zornitza Stark reviewed gene: TCF20: Rating: GREEN; Mode of pathogenicity: None; Publications: 30739909, 30819258, 25228304; Phenotypes: Developmental delay with variable intellectual impairment and behavioral abnormalities, AD, MIM#618430; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2026 TCF20 Zornitza Stark Marked gene: TCF20 as ready
Mendeliome v0.2026 TCF20 Zornitza Stark Gene: tcf20 has been classified as Green List (High Evidence).
Mendeliome v0.2026 TCF20 Zornitza Stark Phenotypes for gene: TCF20 were changed from to Developmental delay with variable intellectual impairment and behavioral abnormalities, AD, MIM#618430
Mendeliome v0.2025 TCF20 Zornitza Stark Publications for gene: TCF20 were set to
Mendeliome v0.2024 TCF20 Zornitza Stark Mode of inheritance for gene: TCF20 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.67 ITGB2 Zornitza Stark Marked gene: ITGB2 as ready
Cataract v0.67 ITGB2 Zornitza Stark Gene: itgb2 has been classified as Red List (Low Evidence).
Cataract v0.67 ITGB2 Zornitza Stark Phenotypes for gene: ITGB2 were changed from to Leukocyte adhesion deficiency (MIM# 116920)
Cataract v0.66 ITGB2 Zornitza Stark Mode of inheritance for gene: ITGB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.65 ITGB2 Zornitza Stark Classified gene: ITGB2 as Red List (low evidence)
Cataract v0.65 ITGB2 Zornitza Stark Gene: itgb2 has been classified as Red List (Low Evidence).
Cataract v0.64 LARGE1 Zornitza Stark Marked gene: LARGE1 as ready
Cataract v0.64 LARGE1 Zornitza Stark Gene: large1 has been classified as Amber List (Moderate Evidence).
Cataract v0.64 LARGE1 Zornitza Stark Phenotypes for gene: LARGE1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 6 (MIM# 613154); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 (MIM# 608840)
Cataract v0.63 LARGE1 Zornitza Stark Publications for gene: LARGE1 were set to
Cataract v0.62 LARGE1 Zornitza Stark Mode of inheritance for gene: LARGE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.61 LARGE1 Zornitza Stark Classified gene: LARGE1 as Amber List (moderate evidence)
Cataract v0.61 LARGE1 Zornitza Stark Gene: large1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.646 TFE3 Zornitza Stark Marked gene: TFE3 as ready
Genetic Epilepsy v0.646 TFE3 Zornitza Stark Gene: tfe3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.646 TFE3 Zornitza Stark Classified gene: TFE3 as Green List (high evidence)
Genetic Epilepsy v0.646 TFE3 Zornitza Stark Gene: tfe3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.645 TFE3 Zornitza Stark gene: TFE3 was added
gene: TFE3 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: TFE3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TFE3 were set to 30595499; 31833172
Phenotypes for gene: TFE3 were set to TFE3-associated neurodevelopmental disorder; Intellectual disability; Epilepsy; Coarse facial features
Review for gene: TFE3 was set to GREEN
Added comment: Seven individuals reported; so far, all have been found to harbour de novo variants affecting exons 3 or 4.
Sources: Expert list
Mendeliome v0.2023 TFE3 Zornitza Stark Marked gene: TFE3 as ready
Mendeliome v0.2023 TFE3 Zornitza Stark Gene: tfe3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2512 TFE3 Zornitza Stark Marked gene: TFE3 as ready
Intellectual disability syndromic and non-syndromic v0.2512 TFE3 Zornitza Stark Gene: tfe3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2512 TFE3 Zornitza Stark Classified gene: TFE3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2512 TFE3 Zornitza Stark Gene: tfe3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2511 TFE3 Zornitza Stark gene: TFE3 was added
gene: TFE3 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: TFE3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TFE3 were set to 30595499; 31833172
Phenotypes for gene: TFE3 were set to TFE3-associated neurodevelopmental disorder; Intellectual disability; Epilepsy; Coarse facial features
Review for gene: TFE3 was set to GREEN
Added comment: Seven individuals reported; so far, all have been found to harbour de novo variants affecting exons 3 or 4.
Sources: Expert list
Mendeliome v0.2023 TFE3 Zornitza Stark Phenotypes for gene: TFE3 were changed from to TFE3-associated neurodevelopmental disorder; Intellectual disability; Epilepsy; Coarse facial features
Mendeliome v0.2022 TFE3 Zornitza Stark Publications for gene: TFE3 were set to
Mendeliome v0.2021 TFE3 Zornitza Stark Mode of inheritance for gene: TFE3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2020 TFE3 Zornitza Stark reviewed gene: TFE3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30595499, 31833172; Phenotypes: TFE3-associated neurodevelopmental disorder, Intellectual disability, Epilepsy, Coarse facial features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2020 ICOSLG Zornitza Stark Marked gene: ICOSLG as ready
Mendeliome v0.2020 ICOSLG Zornitza Stark Gene: icoslg has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2020 ICOSLG Zornitza Stark Phenotypes for gene: ICOSLG were changed from to Combined immunodeficiency; recurrent bacterial and viral infections; neutropaenia
Mendeliome v0.2019 ICOSLG Zornitza Stark Publications for gene: ICOSLG were set to
Mendeliome v0.2018 ICOSLG Zornitza Stark Mode of inheritance for gene: ICOSLG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2017 ICOSLG Zornitza Stark Classified gene: ICOSLG as Amber List (moderate evidence)
Mendeliome v0.2017 ICOSLG Zornitza Stark Gene: icoslg has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2016 ICOSLG Zornitza Stark reviewed gene: ICOSLG: Rating: AMBER; Mode of pathogenicity: None; Publications: 31532372, 30498080; Phenotypes: Combined immunodeficiency, recurrent bacterial and viral infections, neutropaenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dystonia and Chorea v0.53 TREX1 Bryony Thompson Marked gene: TREX1 as ready
Dystonia and Chorea v0.53 TREX1 Bryony Thompson Gene: trex1 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.53 TREX1 Bryony Thompson Classified gene: TREX1 as Green List (high evidence)
Dystonia and Chorea v0.53 TREX1 Bryony Thompson Gene: trex1 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.52 TREX1 Bryony Thompson gene: TREX1 was added
gene: TREX1 was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: TREX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TREX1 were set to 20131292
Phenotypes for gene: TREX1 were set to Aicardi-Goutieres syndrome 1, dominant and recessive MIM#225750
Review for gene: TREX1 was set to GREEN
Added comment: 7 unrelated cases with dystonia as a feature of the condition, 6 biallelic and 1 de novo.
Sources: Expert list
Dystonia and Chorea v0.51 TOR1AIP1 Bryony Thompson reviewed gene: TOR1AIP1: Rating: RED; Mode of pathogenicity: None; Publications: 25425325; Phenotypes: Dystonia, Cerebellar Atrophy, Cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2016 TCF20 Chern Lim reviewed gene: TCF20: Rating: GREEN; Mode of pathogenicity: None; Publications: 30739909, 30819258, 25228304; Phenotypes: Developmental delay with variable intellectual impairment and behavioral abnormalities, AD, MIM#618430; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia and Chorea v0.51 SYT1 Bryony Thompson Classified gene: SYT1 as Green List (high evidence)
Dystonia and Chorea v0.51 SYT1 Bryony Thompson Gene: syt1 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.50 SYT1 Bryony Thompson gene: SYT1 was added
gene: SYT1 was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: SYT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SYT1 were set to 30107533
Phenotypes for gene: SYT1 were set to Baker-Gordon syndrome MIM#618218
Review for gene: SYT1 was set to GREEN
Added comment: 4 out of 11 cases with a de novo variant had dystonia as a feature of the phenotype.
Sources: Expert list
Cataract v0.60 LARGE1 Lauren Akesson reviewed gene: LARGE1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID 17436019; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 6 (MIM# 613154), Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 (MIM# 608840); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dystonia and Chorea v0.49 SUOX Bryony Thompson Classified gene: SUOX as Green List (high evidence)
Dystonia and Chorea v0.49 SUOX Bryony Thompson Gene: suox has been classified as Green List (High Evidence).
Dystonia and Chorea v0.48 SUOX Bryony Thompson gene: SUOX was added
gene: SUOX was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUOX were set to 9600976; 28933809; 16140720
Phenotypes for gene: SUOX were set to Sulfite oxidase deficiency MIM#272300
Review for gene: SUOX was set to GREEN
Added comment: Dystonia is a feature of late-onset isolated sulfite oxidase deficiency. At least 6 cases reported with dystonia as a feature of the condition.
Sources: Expert list
Cataract v0.60 ITGB2 Lauren Akesson reviewed gene: ITGB2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukocyte adhesion deficiency (MIM# 116920); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dystonia and Chorea v0.47 SNORD118 Bryony Thompson Classified gene: SNORD118 as Green List (high evidence)
Dystonia and Chorea v0.47 SNORD118 Bryony Thompson Gene: snord118 has been classified as Green List (High Evidence).
Cataract v0.60 INTS1 Lauren Akesson reviewed gene: INTS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies (618571); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dystonia and Chorea v0.46 SNORD118 Bryony Thompson gene: SNORD118 was added
gene: SNORD118 was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: SNORD118 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNORD118 were set to 27571260
Phenotypes for gene: SNORD118 were set to Leukoencephalopathy, brain calcifications, and cysts MIM#614561
Review for gene: SNORD118 was set to GREEN
Added comment: At least 6 cases/families reported with dystonia as a feature of the condition.
Sources: Expert list
Cataract v0.60 IL2RG Lauren Akesson reviewed gene: IL2RG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency, X-linked (300400), Moderate combined immunodeficiency, X-linked (312863); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Cataract v0.60 IL2RG Lauren Akesson Deleted their review
Cataract v0.60 IL2RG Lauren Akesson reviewed gene: IL2RG: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency (X-linked) (300400), Moderate combined immunodeficiency (X-linked) (312863); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Cataract v0.60 IL10RB Lauren Akesson reviewed gene: IL10RB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Inflammatory bowel disease 25, early onset (612567); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dystonia and Chorea v0.45 SAMHD1 Bryony Thompson Classified gene: SAMHD1 as Amber List (moderate evidence)
Dystonia and Chorea v0.45 SAMHD1 Bryony Thompson Gene: samhd1 has been classified as Amber List (Moderate Evidence).
Dystonia and Chorea v0.44 SAMHD1 Bryony Thompson gene: SAMHD1 was added
gene: SAMHD1 was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SAMHD1 were set to 20131292
Phenotypes for gene: SAMHD1 were set to Aicardi-Goutieres syndrome 5 MIM#612952
Review for gene: SAMHD1 was set to AMBER
Added comment: Two unrelated cases reported with dystonia as a feature of the condition.
Sources: Expert list
Dystonia and Chorea v0.43 RNASEH2C Bryony Thompson Classified gene: RNASEH2C as Green List (high evidence)
Dystonia and Chorea v0.43 RNASEH2C Bryony Thompson Gene: rnaseh2c has been classified as Green List (High Evidence).
Dystonia and Chorea v0.42 RNASEH2C Bryony Thompson gene: RNASEH2C was added
gene: RNASEH2C was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNASEH2C were set to 20131292; 23322642
Phenotypes for gene: RNASEH2C were set to Aicardi-Goutieres syndrome 3 MIM#610329
Review for gene: RNASEH2C was set to GREEN
Added comment: Three unrelated cases with dystonia as a feature of the condition.
Sources: Expert list
Dystonia and Chorea v0.41 RNASEH2B Bryony Thompson Classified gene: RNASEH2B as Green List (high evidence)
Dystonia and Chorea v0.41 RNASEH2B Bryony Thompson Gene: rnaseh2b has been classified as Green List (High Evidence).
Dystonia and Chorea v0.40 RNASEH2B Bryony Thompson gene: RNASEH2B was added
gene: RNASEH2B was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNASEH2B were set to 20131292; 26860721
Phenotypes for gene: RNASEH2B were set to Aicardi-Goutieres syndrome 2 MIM#610181
Review for gene: RNASEH2B was set to GREEN
Added comment: 3 or 4 cases with biallelic variants (one of the publications in Spanish and unsure if both cases have dystonia) with dystonia as a feature of the condition. Two other cases with dystonia as a feature, but only a single heterozygous variant was identified.
Sources: Expert list
Dystonia and Chorea v0.39 RNASEH2A Bryony Thompson gene: RNASEH2A was added
gene: RNASEH2A was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNASEH2A were set to 20131292
Phenotypes for gene: RNASEH2A were set to Aicardi-Goutieres syndrome 4 MIM#610333
Review for gene: RNASEH2A was set to RED
Added comment: Single case reported with dystonia as a feature of the condition.
Sources: Expert list
Early-onset Parkinson disease v0.28 PODXL Bryony Thompson gene: PODXL was added
gene: PODXL was added to Early-onset Parkinson disease. Sources: Literature
Mode of inheritance for gene: PODXL was set to Unknown
Publications for gene: PODXL were set to 26864383; 20706633
Phenotypes for gene: PODXL were set to juvenile-onset Parkinson disease
Review for gene: PODXL was set to AMBER
Added comment: Single consanguineous Indian family reported with a homozygous loss of function variant. A Podxl null mouse model has aberrant neurite length and number of branching points, and also evidence of impaired synaptogenesis. Subsequent screening in 280 Parkinson disease patients with various ages of onset identified 3 heterozygous missense variants (P429T, S373N, and R294Q; all numbering according to isoform 2), absent in gnomAD. Transfection of the missense variants into PC12 cells resulted in variable aberrant neurite length and/or branching, suggesting a functional effect. However, there is more evidence supporting the association of monoallelic and biallelic variants with FSGS (see Proteinuria panel). There was no renal symptoms present in the reported family, which had renal function tests.
Sources: Literature
Combined Immunodeficiency v0.102 FOXN1 Zornitza Stark Publications for gene: FOXN1 were set to
Severe Combined Immunodeficiency v0.16 Zornitza Stark removed gene:FOXN1 from the panel
Combined Immunodeficiency v0.101 FOXN1 Zornitza Stark Mode of inheritance for gene: FOXN1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Combined Immunodeficiency v0.100 FOXN1 Zornitza Stark reviewed gene: FOXN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31447097, 18339010, 10206641; Phenotypes: T-cell immunodeficiency, congenital alopecia, and nail dystrophy, autosomal recessive MIM# 601705, T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominan, MIM#t 618806; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Combined Immunodeficiency v0.15 FOXN1 Zornitza Stark gene: FOXN1 was added
gene: FOXN1 was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Literature
Mode of inheritance for gene: FOXN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXN1 were set to 31447097
Phenotypes for gene: FOXN1 were set to Severe T cell lymphopaenia; Low TRECs
Review for gene: FOXN1 was set to GREEN
Added comment: 47 individuals reported. 21 newborns identified as part of SCID newborn screening had low levels of T cell receptor excision circles (TRECs) and T cell lymphopenia at birth. Adult individuals with heterozygous FOXN1 variants had in most cases normal CD4+ but lower than normal CD8+ cell counts.
Sources: Literature
Mendeliome v0.2016 IL6ST Zornitza Stark Phenotypes for gene: IL6ST were changed from Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523; Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response. to Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523; Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response; Hyper-IgE syndrome, autosomal dominant
Mendeliome v0.2015 IL6ST Zornitza Stark Publications for gene: IL6ST were set to 28747427; 30309848; 12370259; 16041381; 31914175
Mendeliome v0.2014 IL6ST Zornitza Stark Mode of inheritance for gene: IL6ST was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2013 IL6ST Zornitza Stark changed review comment from: Also known as gp130. Two families with bi-allelic missense variants and immunological phenotype described initially. More recently, five individuals from three families reported with a more complex Stuve-Wiedemann-like phenotype reported, including skeletal dysplasia and neonatal lung dysfunction with additional features such as congenital thrombocytopenia, eczematoid dermatitis, renal abnormalities, and defective acute-phase response. These three families had bi-allelic LoF variants (nonsense and canonical splice site). Several mouse models support gene-disease association.
Sources: Expert list; to: Also known as gp130. Two families with bi-allelic missense variants and immunological phenotype described initially. More recently, five individuals from three families reported with a more complex Stuve-Wiedemann-like phenotype reported, including skeletal dysplasia and neonatal lung dysfunction with additional features such as congenital thrombocytopenia, eczematoid dermatitis, renal abnormalities, and defective acute-phase response. These three families had bi-allelic LoF variants (nonsense and canonical splice site). Several mouse models support gene-disease association.
2020: 12 individuals from 8 unrelated families with seven different mono-allelic truncating variants, dominant negative effect proposed.
Sources: Expert list
Mendeliome v0.2013 IL6ST Zornitza Stark edited their review of gene: IL6ST: Changed publications: 28747427, 30309848, 12370259, 16041381, 31914175, 32207811; Changed phenotypes: Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523, Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response, Hyper-IgE syndrome, autosomal dominant; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Combined Immunodeficiency v0.100 IL6ST Zornitza Stark Phenotypes for gene: IL6ST were changed from Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523; Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response. to Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523; Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response; Hyper-IgE syndrome, autosomal dominant
Combined Immunodeficiency v0.99 IL6ST Zornitza Stark Publications for gene: IL6ST were set to 28747427; 30309848; 12370259; 16041381; 31914175
Combined Immunodeficiency v0.98 IL6ST Zornitza Stark edited their review of gene: IL6ST: Changed publications: 32207811, 28747427, 30309848, 12370259, 16041381, 31914175; Changed phenotypes: Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523, Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response., Hyper-IgE syndrome, autosomal dominant; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dystonia and Chorea v0.38 PLP1 Bryony Thompson gene: PLP1 was added
gene: PLP1 was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PLP1 were set to 30046645; 19396823
Phenotypes for gene: PLP1 were set to Pelizaeus-Merzbacher disease MIM#312080
Review for gene: PLP1 was set to RED
Added comment: Dystonia has been reported as a feature of PMD in two cases/families. It does not appear to be a prominent feature of the condition.
Sources: Expert list
Combined Immunodeficiency v0.98 IL6ST Zornitza Stark Mode of inheritance for gene: IL6ST was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Combined Immunodeficiency v0.97 IL6ST Zornitza Stark changed review comment from: Also known as gp130. Two families with bi-allelic missense variants and immunological phenotype described initially. More recently, five individuals from three families reported with a more complex Stuve-Wiedemann-like phenotype reported, including skeletal dysplasia and neonatal lung dysfunction with additional features such as congenital thrombocytopenia, eczematoid dermatitis, renal abnormalities, and defective acute-phase response. These three families had bi-allelic LoF variants (nonsense and canonical splice site). Several mouse models support gene-disease association.
Sources: Expert list; to: Also known as gp130. Two families with bi-allelic missense variants and immunological phenotype described initially. More recently, five individuals from three families reported with a more complex Stuve-Wiedemann-like phenotype reported, including skeletal dysplasia and neonatal lung dysfunction with additional features such as congenital thrombocytopenia, eczematoid dermatitis, renal abnormalities, and defective acute-phase response. These three families had bi-allelic LoF variants (nonsense and canonical splice site). Several mouse models support gene-disease association.
2020: 12 individuals from 8 unrelated families with seven different mono-allelic truncating variants, dominant negative effect proposed.
Sources: Expert list
Dystonia and Chorea v0.37 PDHA1 Bryony Thompson Marked gene: PDHA1 as ready
Dystonia and Chorea v0.37 PDHA1 Bryony Thompson Gene: pdha1 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.37 PDHA1 Bryony Thompson Classified gene: PDHA1 as Green List (high evidence)
Dystonia and Chorea v0.37 PDHA1 Bryony Thompson Gene: pdha1 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.36 PDHA1 Bryony Thompson gene: PDHA1 was added
gene: PDHA1 was added to Dystonia - complex. Sources: Literature
Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: PDHA1 were set to 20002125
Phenotypes for gene: PDHA1 were set to Pyruvate dehydrogenase E1-alpha deficiency MIM#312170
Review for gene: PDHA1 was set to GREEN
Added comment: At least four cases reported with dystonia as a feature of the condition.
Sources: Literature
Dystonia and Chorea v0.35 PDHX Bryony Thompson Classified gene: PDHX as Green List (high evidence)
Dystonia and Chorea v0.35 PDHX Bryony Thompson Gene: pdhx has been classified as Green List (High Evidence).
Dystonia and Chorea v0.34 PDHX Bryony Thompson gene: PDHX was added
gene: PDHX was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: PDHX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDHX were set to 20002125; 16566017; 17152059
Phenotypes for gene: PDHX were set to Lacticacidemia due to PDX1 deficiency MIM#245349
Review for gene: PDHX was set to GREEN
Added comment: At least four cases reported with dystonia as a feature of the condition.
Sources: Expert list
Mendeliome v0.2013 TBX19 Kristin Rigbye reviewed gene: TBX19: Rating: GREEN; Mode of pathogenicity: None; Publications: 15613420, 15613420; Phenotypes: Adrenocorticotropic hormone deficiency, 201400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2013 PIEZO1 Kristin Rigbye reviewed gene: PIEZO1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23695678, 26333996; Phenotypes: Lymphatic malformation 6, 616843, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dystonia and Chorea v0.33 NKX2-1 Bryony Thompson Marked gene: NKX2-1 as ready
Dystonia and Chorea v0.33 NKX2-1 Bryony Thompson Gene: nkx2-1 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.33 NKX2-1 Bryony Thompson Classified gene: NKX2-1 as Green List (high evidence)
Dystonia and Chorea v0.33 NKX2-1 Bryony Thompson Gene: nkx2-1 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.32 NKX2-1 Bryony Thompson gene: NKX2-1 was added
gene: NKX2-1 was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NKX2-1 were set to 24714694; 30186310
Phenotypes for gene: NKX2-1 were set to Chorea, hereditary benign MIM#118700; Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978
Review for gene: NKX2-1 was set to GREEN
Added comment: At least 7 cases with dystonia as a feature of the condition.
Sources: Expert list
Cataract v0.60 IL10RA Lauren Akesson reviewed gene: IL10RA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Inflammatory bowel disease 28, early onset (613148); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.60 IL10 Lauren Akesson reviewed gene: IL10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Chromosome Breakage Disorders v0.15 BRCA1 Zornitza Stark gene: BRCA1 was added
gene: BRCA1 was added to Chromosome Breakage Disorders. Sources: Expert list
Mode of inheritance for gene: BRCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRCA1 were set to 23269703; 29133208; 25472942; 29712865
Phenotypes for gene: BRCA1 were set to Fanconi anemia, complementation group S, MIM# 617883
Review for gene: BRCA1 was set to GREEN
Added comment: At least 5 unrelated families with bi-allelic variants reported and FA phenotype.
Sources: Expert list
Bone Marrow Failure v0.56 TP53 Zornitza Stark Marked gene: TP53 as ready
Bone Marrow Failure v0.56 TP53 Zornitza Stark Gene: tp53 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.56 TP53 Zornitza Stark Classified gene: TP53 as Amber List (moderate evidence)
Bone Marrow Failure v0.56 TP53 Zornitza Stark Gene: tp53 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.55 TP53 Zornitza Stark gene: TP53 was added
gene: TP53 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: TP53 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TP53 were set to 30146126; 24013501; 23770245
Phenotypes for gene: TP53 were set to Bone marrow failure syndrome 5, MIM# 618165
Mode of pathogenicity for gene: TP53 was set to Other
Review for gene: TP53 was set to AMBER
Added comment: Two unrelated individuals with de novo variants in this gene, both resulted in the same truncation of the protein with a loss of 32 residues from the C-terminal end (Ser362AlafsTer8). The deletion is postulated to compromise binding of negative transcriptional regulators, resulting in augmented p53 function, not loss of function. Mouse models with animals lacking the C-terminal end of Tp53 show similar abnormalities.
Sources: Expert list
Mendeliome v0.2013 SAMD9L Zornitza Stark Marked gene: SAMD9L as ready
Mendeliome v0.2013 SAMD9L Zornitza Stark Gene: samd9l has been classified as Green List (High Evidence).
Mendeliome v0.2013 SAMD9L Zornitza Stark Phenotypes for gene: SAMD9L were changed from to Ataxia-pancytopenia syndrome, MIM# 159550
Mendeliome v0.2012 SAMD9L Zornitza Stark Publications for gene: SAMD9L were set to
Mendeliome v0.2011 SAMD9L Zornitza Stark Mode of pathogenicity for gene: SAMD9L was changed from to Other
Mendeliome v0.2010 SAMD9L Zornitza Stark Mode of inheritance for gene: SAMD9L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2009 SAMD9L Zornitza Stark edited their review of gene: SAMD9L: Changed mode of pathogenicity: Other
Mendeliome v0.2009 SAMD9L Zornitza Stark reviewed gene: SAMD9L: Rating: GREEN; Mode of pathogenicity: None; Publications: 27259050, 30923096, 30322869; Phenotypes: Ataxia-pancytopenia syndrome, MIM# 159550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.54 SAMD9L Zornitza Stark Marked gene: SAMD9L as ready
Bone Marrow Failure v0.54 SAMD9L Zornitza Stark Gene: samd9l has been classified as Green List (High Evidence).
Bone Marrow Failure v0.54 SAMD9L Zornitza Stark Classified gene: SAMD9L as Green List (high evidence)
Bone Marrow Failure v0.54 SAMD9L Zornitza Stark Gene: samd9l has been classified as Green List (High Evidence).
Bone Marrow Failure v0.53 SAMD9L Zornitza Stark gene: SAMD9L was added
gene: SAMD9L was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: SAMD9L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SAMD9L were set to 27259050; 30923096; 30322869
Phenotypes for gene: SAMD9L were set to Ataxia-pancytopenia syndrome, MIM# 159550
Mode of pathogenicity for gene: SAMD9L was set to Other
Review for gene: SAMD9L was set to GREEN
Added comment: At least three unrelated families reported, some postulate GoF whereas others postulate LoF as mechanism.
Sources: Expert list
Dystonia and Chorea v0.31 MPV17 Bryony Thompson gene: MPV17 was added
gene: MPV17 was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPV17 were set to 29282788
Phenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MIM#256810
Review for gene: MPV17 was set to RED
Added comment: Dystonia is not a prominent feature of the condition. It has been reported in 4/91 (4%) of cases. There are other features that are more prominent.
Sources: Expert list
Mendeliome v0.2009 RFWD3 Zornitza Stark Marked gene: RFWD3 as ready
Mendeliome v0.2009 RFWD3 Zornitza Stark Gene: rfwd3 has been classified as Red List (Low Evidence).
Mendeliome v0.2009 RFWD3 Zornitza Stark Phenotypes for gene: RFWD3 were changed from to Fanconi anemia, complementation group W, MIM# 617784
Mendeliome v0.2008 RFWD3 Zornitza Stark Publications for gene: RFWD3 were set to
Mendeliome v0.2007 RFWD3 Zornitza Stark Mode of inheritance for gene: RFWD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2006 RFWD3 Zornitza Stark Classified gene: RFWD3 as Red List (low evidence)
Mendeliome v0.2006 RFWD3 Zornitza Stark Gene: rfwd3 has been classified as Red List (Low Evidence).
Mendeliome v0.2005 RFWD3 Zornitza Stark reviewed gene: RFWD3: Rating: RED; Mode of pathogenicity: None; Publications: 28691929; Phenotypes: Fanconi anemia, complementation group W, MIM# 617784; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.52 RFWD3 Zornitza Stark Marked gene: RFWD3 as ready
Bone Marrow Failure v0.52 RFWD3 Zornitza Stark Gene: rfwd3 has been classified as Red List (Low Evidence).
Chromosome Breakage Disorders v0.14 RFWD3 Zornitza Stark Marked gene: RFWD3 as ready
Chromosome Breakage Disorders v0.14 RFWD3 Zornitza Stark Gene: rfwd3 has been classified as Red List (Low Evidence).
Chromosome Breakage Disorders v0.14 RFWD3 Zornitza Stark gene: RFWD3 was added
gene: RFWD3 was added to Chromosome Breakage Disorders. Sources: Expert list
Mode of inheritance for gene: RFWD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RFWD3 were set to 28691929
Phenotypes for gene: RFWD3 were set to Fanconi anemia, complementation group W, MIM# 617784
Review for gene: RFWD3 was set to RED
Added comment: Single family reported, functional data.
Sources: Expert list
Bone Marrow Failure v0.52 RFWD3 Zornitza Stark gene: RFWD3 was added
gene: RFWD3 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: RFWD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RFWD3 were set to 28691929
Phenotypes for gene: RFWD3 were set to Fanconi anemia, complementation group W, MIM# 617784
Review for gene: RFWD3 was set to RED
Added comment: Single family reported, functional data
Sources: Expert list
Cataract v0.60 IKBKG Lauren Akesson reviewed gene: IKBKG: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 22564885 (review), 12975158, 20499493, 10893071; Phenotypes: Incontinentia pigmenti (308300), / Ectodermal dysplasia and immunodeficiency 1 (300291), Ectodermal dysplasia, anhidrotic, lymphoedema and immunodeficiency (300301), Immunodeficiency 33 (300636), Immunodeficiency, isolated (300584), Invasive pneumococcal disease, recurrent isolated 2 (300640); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Dystonia and Chorea v0.30 MMADHC Bryony Thompson gene: MMADHC was added
gene: MMADHC was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMADHC were set to 15292234; 18385497
Phenotypes for gene: MMADHC were set to Homocystinuria, cblD type, variant 1 MIM#277410
Review for gene: MMADHC was set to RED
Added comment: Single case reported with dystonia as a feature of the condition.
Sources: Expert list
Chromosome Breakage Disorders v0.13 MAD2L2 Zornitza Stark Marked gene: MAD2L2 as ready
Chromosome Breakage Disorders v0.13 MAD2L2 Zornitza Stark Gene: mad2l2 has been classified as Red List (Low Evidence).
Chromosome Breakage Disorders v0.13 MAD2L2 Zornitza Stark gene: MAD2L2 was added
gene: MAD2L2 was added to Chromosome Breakage Disorders. Sources: Expert list
Mode of inheritance for gene: MAD2L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAD2L2 were set to 27500492
Phenotypes for gene: MAD2L2 were set to Fanconi anemia, complementation group V, MIM# 617243
Review for gene: MAD2L2 was set to RED
Added comment: Single family reported.
Sources: Expert list
Mendeliome v0.2005 MAD2L2 Zornitza Stark Marked gene: MAD2L2 as ready
Mendeliome v0.2005 MAD2L2 Zornitza Stark Gene: mad2l2 has been classified as Red List (Low Evidence).
Mendeliome v0.2005 MAD2L2 Zornitza Stark gene: MAD2L2 was added
gene: MAD2L2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MAD2L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAD2L2 were set to 27500492
Phenotypes for gene: MAD2L2 were set to Fanconi anemia, complementation group V, MIM# 617243
Review for gene: MAD2L2 was set to RED
Added comment: Single family reported.
Sources: Expert list
Bone Marrow Failure v0.51 MAD2L2 Zornitza Stark Marked gene: MAD2L2 as ready
Bone Marrow Failure v0.51 MAD2L2 Zornitza Stark Gene: mad2l2 has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.51 MAD2L2 Zornitza Stark gene: MAD2L2 was added
gene: MAD2L2 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: MAD2L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAD2L2 were set to 27500492
Phenotypes for gene: MAD2L2 were set to Fanconi anemia, complementation group V, MIM# 617243
Review for gene: MAD2L2 was set to RED
Added comment: Single family reported.
Sources: Expert list
Mendeliome v0.2004 UBE2T Zornitza Stark Marked gene: UBE2T as ready
Mendeliome v0.2004 UBE2T Zornitza Stark Gene: ube2t has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2004 UBE2T Zornitza Stark Phenotypes for gene: UBE2T were changed from to Fanconi anemia, complementation group T, MIM# 616435
Mendeliome v0.2003 UBE2T Zornitza Stark Publications for gene: UBE2T were set to
Mendeliome v0.2002 UBE2T Zornitza Stark Mode of inheritance for gene: UBE2T was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2001 UBE2T Zornitza Stark Classified gene: UBE2T as Amber List (moderate evidence)
Mendeliome v0.2001 UBE2T Zornitza Stark Gene: ube2t has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2000 UBE2T Zornitza Stark reviewed gene: UBE2T: Rating: AMBER; Mode of pathogenicity: None; Publications: 26046368; Phenotypes: Fanconi anemia, complementation group T, MIM# 616435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.12 UBE2T Zornitza Stark Marked gene: UBE2T as ready
Chromosome Breakage Disorders v0.12 UBE2T Zornitza Stark Gene: ube2t has been classified as Amber List (Moderate Evidence).
Chromosome Breakage Disorders v0.12 UBE2T Zornitza Stark Phenotypes for gene: UBE2T were changed from to Fanconi anemia, complementation group T, MIM# 616435
Chromosome Breakage Disorders v0.11 UBE2T Zornitza Stark Publications for gene: UBE2T were set to
Chromosome Breakage Disorders v0.10 UBE2T Zornitza Stark Mode of inheritance for gene: UBE2T was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.9 UBE2T Zornitza Stark Classified gene: UBE2T as Amber List (moderate evidence)
Chromosome Breakage Disorders v0.9 UBE2T Zornitza Stark Gene: ube2t has been classified as Amber List (Moderate Evidence).
Chromosome Breakage Disorders v0.8 UBE2T Zornitza Stark reviewed gene: UBE2T: Rating: AMBER; Mode of pathogenicity: None; Publications: 26046368; Phenotypes: Fanconi anemia, complementation group T, MIM# 616435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.50 UBE2T Zornitza Stark Marked gene: UBE2T as ready
Bone Marrow Failure v0.50 UBE2T Zornitza Stark Gene: ube2t has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.50 UBE2T Zornitza Stark Classified gene: UBE2T as Amber List (moderate evidence)
Bone Marrow Failure v0.50 UBE2T Zornitza Stark Gene: ube2t has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.49 UBE2T Zornitza Stark gene: UBE2T was added
gene: UBE2T was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBE2T were set to 26046368
Phenotypes for gene: UBE2T were set to Fanconi anemia, complementation group T, MIM# 616435
Review for gene: UBE2T was set to AMBER
Added comment: Two unrelated families reported, one of the variants was a large deletion.
Sources: Expert list
Dystonia and Chorea v0.29 MAT1A Bryony Thompson gene: MAT1A was added
gene: MAT1A was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: MAT1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAT1A were set to 8770875
Phenotypes for gene: MAT1A were set to Methionine adenosyltransferase deficiency, autosomal recessive MIM#250850
Review for gene: MAT1A was set to RED
Added comment: Single case reported with dystonia a feature of the condition.
Sources: Expert list
Bone Marrow Failure v0.48 BRCA1 Zornitza Stark Marked gene: BRCA1 as ready
Bone Marrow Failure v0.48 BRCA1 Zornitza Stark Gene: brca1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.48 BRCA1 Zornitza Stark Classified gene: BRCA1 as Green List (high evidence)
Bone Marrow Failure v0.48 BRCA1 Zornitza Stark Gene: brca1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.47 BRCA1 Zornitza Stark gene: BRCA1 was added
gene: BRCA1 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: BRCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRCA1 were set to 23269703; 29133208; 25472942; 29712865
Phenotypes for gene: BRCA1 were set to Fanconi anemia, complementation group S, MIM# 617883
Review for gene: BRCA1 was set to GREEN
Added comment: At least 5 unrelated families with bi-allelic variants reported and FA phenotype.
Sources: Expert list
Dystonia and Chorea v0.28 MARS2 Bryony Thompson Marked gene: MARS2 as ready
Dystonia and Chorea v0.28 MARS2 Bryony Thompson Gene: mars2 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.28 MARS2 Bryony Thompson Classified gene: MARS2 as Green List (high evidence)
Dystonia and Chorea v0.28 MARS2 Bryony Thompson Added comment: Comment on list classification: Large duplications that are not detected by WES are the only reported cause of the form of spastic ataxia caused by this gene.
Dystonia and Chorea v0.28 MARS2 Bryony Thompson Gene: mars2 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.27 MARS2 Bryony Thompson Tag SV/CNV tag was added to gene: MARS2.
Dystonia and Chorea v0.27 MARS2 Bryony Thompson gene: MARS2 was added
gene: MARS2 was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: MARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MARS2 were set to 16672289; 22448145
Phenotypes for gene: MARS2 were set to Spastic ataxia 3, autosomal recessive MIM#611390
Review for gene: MARS2 was set to GREEN
Added comment: 57% of 23 cases from 17 French-Canadian spastic ataxia families had dystonia as a feature of the condition.
Sources: Expert list
Cataract v0.60 ICOS Lauren Akesson reviewed gene: ICOS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Common variable immunodeficiency 1 (604558); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dystonia and Chorea v0.26 MAPT Bryony Thompson gene: MAPT was added
gene: MAPT was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: MAPT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAPT were set to 17319286; 15883319
Phenotypes for gene: MAPT were set to Dementia, frontotemporal, with or without parkinsonism MIM#600274
Review for gene: MAPT was set to AMBER
Added comment: Dystonia has been reported in two cases. Cannot find evidence that dystonia is a prominent feature associated with MAPT variants.
Sources: Expert list
Dystonia and Chorea v0.25 L2HGDH Bryony Thompson Marked gene: L2HGDH as ready
Dystonia and Chorea v0.25 L2HGDH Bryony Thompson Gene: l2hgdh has been classified as Green List (High Evidence).
Dystonia and Chorea v0.25 L2HGDH Bryony Thompson Classified gene: L2HGDH as Green List (high evidence)
Dystonia and Chorea v0.25 L2HGDH Bryony Thompson Gene: l2hgdh has been classified as Green List (High Evidence).
Dystonia and Chorea v0.24 L2HGDH Bryony Thompson gene: L2HGDH was added
gene: L2HGDH was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: L2HGDH were set to 24753671; 18780161; 15824270; 10399870
Phenotypes for gene: L2HGDH were set to L-2-hydroxyglutaric aciduria MIM#236792
Review for gene: L2HGDH was set to GREEN
Added comment: Four families with dystonia as a feature of the condition.
Sources: Expert list
Cataract v0.60 HTRA2 Lauren Akesson gene: HTRA2 was added
gene: HTRA2 was added to Cataract. Sources: Literature
Mode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HTRA2 were set to PMID: 27696117; 27208207
Phenotypes for gene: HTRA2 were set to 3-methylglutaconic aciduria type VIII (617248)
Penetrance for gene: HTRA2 were set to unknown
Review for gene: HTRA2 was set to GREEN
Added comment: Cataract is listed as part of the phenotype of 3-methylglutaconic aciduria caused by HTRA2 in OMIM (617248). Cataracts are a well established phenotypic feature of 3-methylglutaconic aciduria, which is caused by several genes including HTRA2. At least one proband with a homozygous HTRA2 variant has cataracts (PMID 27696117). A total of four unrelated families with homozygous HTRA2 variants demonstrate 3-methylglutaconic aciduria (PMID 27696117; 27208207) of which two variants segregate with disease within the families (PMID 27208207) and two variants have functional studies (PMID 27696117).
Sources: Literature
Dystonia and Chorea v0.23 KCNQ2 Bryony Thompson gene: KCNQ2 was added
gene: KCNQ2 was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNQ2 were set to 12742592
Phenotypes for gene: KCNQ2 were set to Epileptic encephalopathy, early infantile, 7 MIM#613720
Review for gene: KCNQ2 was set to RED
Added comment: Cannot find evidence that dystonia is a prominent feature of the condition. Single case reported with dystonic features from 2003
Sources: Expert list
Cataract v0.60 HPS6 Lauren Akesson reviewed gene: HPS6: Rating: AMBER; Mode of pathogenicity: None; Publications: 8719678; Phenotypes: Hermansky-Pudlak syndrome 6 (614075); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.60 HPS4 Lauren Akesson reviewed gene: HPS4: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 8719678; Phenotypes: Hermansky-Pudlak syndrome 4 (614073); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.60 HPS1 Lauren Akesson reviewed gene: HPS1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID 8719678, 27058854; Phenotypes: Hermansky-Pudlak syndrome 1 (203300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2000 HAVCR2 Zornitza Stark Marked gene: HAVCR2 as ready
Mendeliome v0.2000 HAVCR2 Zornitza Stark Gene: havcr2 has been classified as Green List (High Evidence).
Mendeliome v0.2000 HAVCR2 Zornitza Stark Classified gene: HAVCR2 as Green List (high evidence)
Mendeliome v0.2000 HAVCR2 Zornitza Stark Gene: havcr2 has been classified as Green List (High Evidence).
Mendeliome v0.1999 HAVCR2 Zornitza Stark gene: HAVCR2 was added
gene: HAVCR2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: HAVCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAVCR2 were set to 30374066; 30792187
Phenotypes for gene: HAVCR2 were set to T-cell lymphoma, subcutaneous panniculitis-like, MIM# 618398
Review for gene: HAVCR2 was set to GREEN
Added comment: Over 20 unrelated individuals reported, note germline confirmation in only a few. Some variants are recurrent: c.245A>G (p.Tyr82Cys) and c.291A>G (p.Ile97Met).
Sources: Expert list
Autoinflammatory Disorders v0.41 HAVCR2 Zornitza Stark Marked gene: HAVCR2 as ready
Autoinflammatory Disorders v0.41 HAVCR2 Zornitza Stark Gene: havcr2 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.41 HAVCR2 Zornitza Stark Classified gene: HAVCR2 as Green List (high evidence)
Autoinflammatory Disorders v0.41 HAVCR2 Zornitza Stark Gene: havcr2 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.40 HAVCR2 Zornitza Stark gene: HAVCR2 was added
gene: HAVCR2 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: HAVCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAVCR2 were set to 30374066; 30792187
Phenotypes for gene: HAVCR2 were set to T-cell lymphoma, subcutaneous panniculitis-like, MIM# 618398
Review for gene: HAVCR2 was set to GREEN
Added comment: Over 20 unrelated individuals reported, note germline confirmation in only a few. Some variants are recurrent: c.245A>G (p.Tyr82Cys) and c.291A>G (p.Ile97Met).
Sources: Expert list
Mendeliome v0.1998 TRIM22 Zornitza Stark Marked gene: TRIM22 as ready
Mendeliome v0.1998 TRIM22 Zornitza Stark Gene: trim22 has been classified as Green List (High Evidence).
Mendeliome v0.1998 TRIM22 Zornitza Stark Classified gene: TRIM22 as Green List (high evidence)
Mendeliome v0.1998 TRIM22 Zornitza Stark Gene: trim22 has been classified as Green List (High Evidence).
Mendeliome v0.1997 TRIM22 Zornitza Stark gene: TRIM22 was added
gene: TRIM22 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: TRIM22 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIM22 were set to 26836588
Phenotypes for gene: TRIM22 were set to Inflammatory bowel disease
Review for gene: TRIM22 was set to GREEN
Added comment: Three unrelated families reported with bi-allelic variants in this gene, and very early onset IBD, some functional data.
Sources: Expert list
Inflammatory bowel disease v0.11 TRIM22 Zornitza Stark Marked gene: TRIM22 as ready
Inflammatory bowel disease v0.11 TRIM22 Zornitza Stark Gene: trim22 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.11 TRIM22 Zornitza Stark Classified gene: TRIM22 as Green List (high evidence)
Inflammatory bowel disease v0.11 TRIM22 Zornitza Stark Gene: trim22 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.10 TRIM22 Zornitza Stark gene: TRIM22 was added
gene: TRIM22 was added to Inflammatory bowel disease. Sources: Expert list
Mode of inheritance for gene: TRIM22 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIM22 were set to 26836588
Phenotypes for gene: TRIM22 were set to Inflammatory bowel disease
Review for gene: TRIM22 was set to GREEN
Added comment: Three unrelated families reported with bi-allelic variants in this gene, and very early onset IBD, some functional data.
Sources: Expert list
Dystonia and Chorea v0.22 HACE1 Bryony Thompson Marked gene: HACE1 as ready
Dystonia and Chorea v0.22 HACE1 Bryony Thompson Gene: hace1 has been classified as Amber List (Moderate Evidence).
Dystonia and Chorea v0.22 HACE1 Bryony Thompson Classified gene: HACE1 as Amber List (moderate evidence)
Dystonia and Chorea v0.22 HACE1 Bryony Thompson Gene: hace1 has been classified as Amber List (Moderate Evidence).
Dystonia and Chorea v0.21 HACE1 Bryony Thompson gene: HACE1 was added
gene: HACE1 was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: HACE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HACE1 were set to 26424145; 26437029
Phenotypes for gene: HACE1 were set to Spastic paraplegia and psychomotor retardation with or without seizures MIM#616756
Review for gene: HACE1 was set to AMBER
Added comment: Two families where 1/5 and 1/3 affected cases has dystonic movements as part of their phenotype, respectively (PMID: 26424145). Members of two out of four families have spasticity/dystonia features, with no further differentiation supplied (PMID: 26437029).
Sources: Expert list
Mendeliome v0.1996 ALPI Zornitza Stark Marked gene: ALPI as ready
Mendeliome v0.1996 ALPI Zornitza Stark Gene: alpi has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1996 ALPI Zornitza Stark Classified gene: ALPI as Amber List (moderate evidence)
Mendeliome v0.1996 ALPI Zornitza Stark Gene: alpi has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1995 ALPI Zornitza Stark gene: ALPI was added
gene: ALPI was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ALPI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALPI were set to 29567797
Phenotypes for gene: ALPI were set to Inflammatory bowel disease
Review for gene: ALPI was set to AMBER
Added comment: Two unrelated individuals, some functional data.
Sources: Expert list
Inflammatory bowel disease v0.9 ALPI Zornitza Stark Marked gene: ALPI as ready
Inflammatory bowel disease v0.9 ALPI Zornitza Stark Gene: alpi has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.9 ALPI Zornitza Stark Classified gene: ALPI as Amber List (moderate evidence)
Inflammatory bowel disease v0.9 ALPI Zornitza Stark Gene: alpi has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.8 ALPI Zornitza Stark gene: ALPI was added
gene: ALPI was added to Inflammatory bowel disease. Sources: Expert list
Mode of inheritance for gene: ALPI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALPI were set to 29567797
Phenotypes for gene: ALPI were set to Inflammatory bowel disease
Review for gene: ALPI was set to AMBER
Added comment: Two unrelated individuals, some functional data.
Sources: Expert list
Mendeliome v0.1994 PSMG2 Zornitza Stark Marked gene: PSMG2 as ready
Mendeliome v0.1994 PSMG2 Zornitza Stark Gene: psmg2 has been classified as Red List (Low Evidence).
Mendeliome v0.1994 PSMG2 Zornitza Stark gene: PSMG2 was added
gene: PSMG2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: PSMG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMG2 were set to 30664889
Phenotypes for gene: PSMG2 were set to CANDLE syndrome; Chronic atypical neutrophilic dermatitis with lipodystrophy
Review for gene: PSMG2 was set to RED
Added comment: Single individual reported.
Sources: Expert list
Autoinflammatory Disorders v0.39 PSMG2 Zornitza Stark Marked gene: PSMG2 as ready
Autoinflammatory Disorders v0.39 PSMG2 Zornitza Stark Gene: psmg2 has been classified as Red List (Low Evidence).
Autoinflammatory Disorders v0.39 PSMG2 Zornitza Stark gene: PSMG2 was added
gene: PSMG2 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: PSMG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMG2 were set to 30664889
Phenotypes for gene: PSMG2 were set to CANDLE syndrome; Chronic atypical neutrophilic dermatitis with lipodystrophy
Review for gene: PSMG2 was set to RED
Added comment: Single individual reported.
Sources: Expert list
Mendeliome v0.1993 NLRP1 Zornitza Stark Marked gene: NLRP1 as ready
Mendeliome v0.1993 NLRP1 Zornitza Stark Gene: nlrp1 has been classified as Green List (High Evidence).
Mendeliome v0.1993 NLRP1 Zornitza Stark Phenotypes for gene: NLRP1 were changed from to Autoinflammation with arthritis and dyskeratosis, MIM# 617388; Palmoplantar carcinoma, multiple self-healing, MIM# 615225; Recurrent respiratory papillomatosis
Mendeliome v0.1992 NLRP1 Zornitza Stark Publications for gene: NLRP1 were set to
Mendeliome v0.1991 NLRP1 Zornitza Stark Mode of inheritance for gene: NLRP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1990 NLRP1 Zornitza Stark reviewed gene: NLRP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27965258, 31484767, 27662089; Phenotypes: Autoinflammation with arthritis and dyskeratosis, MIM# 617388, Palmoplantar carcinoma, multiple self-healing 615225, Recurrent respiratory papillomatosis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.38 NLRP1 Zornitza Stark Marked gene: NLRP1 as ready
Autoinflammatory Disorders v0.38 NLRP1 Zornitza Stark Gene: nlrp1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.38 NLRP1 Zornitza Stark Classified gene: NLRP1 as Green List (high evidence)
Autoinflammatory Disorders v0.38 NLRP1 Zornitza Stark Gene: nlrp1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.37 NLRP1 Zornitza Stark gene: NLRP1 was added
gene: NLRP1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: NLRP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NLRP1 were set to 27965258; 31484767; 27662089
Phenotypes for gene: NLRP1 were set to Autoinflammation with arthritis and dyskeratosis, MIM# 617388; Palmoplantar carcinoma, multiple self-healing 615225; Recurrent respiratory papillomatosis
Mode of pathogenicity for gene: NLRP1 was set to Other
Review for gene: NLRP1 was set to GREEN
Added comment: Multiple phenotypes resulting from abnormal inflammatory response associated with this gene, both mono-allelic and bi-allelic, some gain-of-function (including bi-allelic).
Bi-allelic disease: single family with dyskeratosis, autoimmunity and arthritis and another family with bi-allelic GoF and recurrent respiratory papillomatosis phenotype
Mono-allelic disease: mostly pertains to the association with multiple self-healing palmoplantar carcinomas (MSPC). One consanguineous family in which a sister and brother with clinical features of MSPC as well as multiple discrete and semiconfluent lichenoid papules on the arms, legs, and lower trunk were homozygous for an in-frame deletion in the NLRP1 gene, and parents had milder skin defects. The clinical diagnosis in this family was familial keratosis lichenoides chronica (Nekam disease).
Sources: Expert list
Brain Calcification v0.18 USP18 Zornitza Stark Marked gene: USP18 as ready
Brain Calcification v0.18 USP18 Zornitza Stark Gene: usp18 has been classified as Green List (High Evidence).
Brain Calcification v0.18 USP18 Zornitza Stark Classified gene: USP18 as Green List (high evidence)
Brain Calcification v0.18 USP18 Zornitza Stark Gene: usp18 has been classified as Green List (High Evidence).
Brain Calcification v0.17 USP18 Zornitza Stark gene: USP18 was added
gene: USP18 was added to Brain Calcification. Sources: Expert list
Mode of inheritance for gene: USP18 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP18 were set to 31940699; 27325888
Phenotypes for gene: USP18 were set to Pseudo-TORCH syndrome 2, MIM# 617397
Review for gene: USP18 was set to GREEN
Added comment: Three unrelated families reported. Note cryptic 3' deletion identified in one.
Sources: Expert list
Autoinflammatory Disorders v0.36 USP18 Zornitza Stark changed review comment from: Two unrelated families reported.
Sources: Expert list; to: Three unrelated families reported. Note cryptic 3' deletion identified in one.
Sources: Expert list
Autoinflammatory Disorders v0.36 USP18 Zornitza Stark edited their review of gene: USP18: Changed rating: GREEN; Changed phenotypes: Pseudo-TORCH syndrome 2, MIM# 617397
Autoinflammatory Disorders v0.36 USP18 Zornitza Stark Marked gene: USP18 as ready
Autoinflammatory Disorders v0.36 USP18 Zornitza Stark Gene: usp18 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.36 USP18 Zornitza Stark Classified gene: USP18 as Green List (high evidence)
Autoinflammatory Disorders v0.36 USP18 Zornitza Stark Gene: usp18 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.35 USP18 Zornitza Stark Classified gene: USP18 as Amber List (moderate evidence)
Autoinflammatory Disorders v0.35 USP18 Zornitza Stark Gene: usp18 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.34 USP18 Zornitza Stark gene: USP18 was added
gene: USP18 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: USP18 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP18 were set to 31940699; 27325888
Phenotypes for gene: USP18 were set to Pseudo-TORCH syndrome 2, MIM# 617397
Review for gene: USP18 was set to AMBER
Added comment: Two unrelated families reported.
Sources: Expert list
Mendeliome v0.1990 POLA1 Zornitza Stark Marked gene: POLA1 as ready
Mendeliome v0.1990 POLA1 Zornitza Stark Gene: pola1 has been classified as Green List (High Evidence).
Mendeliome v0.1990 POLA1 Zornitza Stark Phenotypes for gene: POLA1 were changed from to Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM# 301220; Van Esch-O'Driscoll syndrome OMIM# 301030
Mendeliome v0.1989 POLA1 Zornitza Stark Publications for gene: POLA1 were set to
Mendeliome v0.1988 POLA1 Zornitza Stark Mode of inheritance for gene: POLA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1987 POLA1 Zornitza Stark Tag deep intronic tag was added to gene: POLA1.
Mendeliome v0.1987 POLA1 Zornitza Stark reviewed gene: POLA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27019227, 31006512; Phenotypes: Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM# 301220, Van Esch-O'Driscoll syndrome OMIM# 301030; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Autoinflammatory Disorders v0.33 POLA1 Zornitza Stark Tag deep intronic tag was added to gene: POLA1.
Autoinflammatory Disorders v0.33 POLA1 Zornitza Stark Marked gene: POLA1 as ready
Autoinflammatory Disorders v0.33 POLA1 Zornitza Stark Gene: pola1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.33 POLA1 Zornitza Stark Classified gene: POLA1 as Green List (high evidence)
Autoinflammatory Disorders v0.33 POLA1 Zornitza Stark Gene: pola1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.32 POLA1 Zornitza Stark gene: POLA1 was added
gene: POLA1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: POLA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: POLA1 were set to 27019227
Phenotypes for gene: POLA1 were set to Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM# 301220
Review for gene: POLA1 was set to GREEN
Added comment: 12 unrelated families with same g.24744696A-G transition (NC_000023.10, g.24744696A-G) in intron 13 of the POLA1 gene, resulting the introduction of a novel exon (exon 13a) into the transcript. Two of the families shared the same haplotype, indicative of founder effect but rest thought to have arisen independently, including at least one de novo variant.
Sources: Expert list
Autoinflammatory Disorders v0.31 ACP5 Zornitza Stark Marked gene: ACP5 as ready
Autoinflammatory Disorders v0.31 ACP5 Zornitza Stark Gene: acp5 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.31 ACP5 Zornitza Stark Classified gene: ACP5 as Green List (high evidence)
Autoinflammatory Disorders v0.31 ACP5 Zornitza Stark Gene: acp5 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.30 ACP5 Zornitza Stark gene: ACP5 was added
gene: ACP5 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: ACP5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACP5 were set to 26951490; 21217755; 26789720; 26346816
Phenotypes for gene: ACP5 were set to Spondyloenchondrodysplasia with immune dysregulation, MIM# 607944; Short stature; SLE, thrombocytopenia and autoimmune haemolytic anaemia; Possibly recurrent bacterial and viral infections
Review for gene: ACP5 was set to GREEN
Added comment: Sources: Expert list
Autoinflammatory Disorders v0.29 IFIH1 Zornitza Stark Classified gene: IFIH1 as Green List (high evidence)
Autoinflammatory Disorders v0.29 IFIH1 Zornitza Stark Gene: ifih1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.28 IFIH1 Zornitza Stark Marked gene: IFIH1 as ready
Autoinflammatory Disorders v0.28 IFIH1 Zornitza Stark Gene: ifih1 has been classified as Red List (Low Evidence).
Autoinflammatory Disorders v0.28 IFIH1 Zornitza Stark gene: IFIH1 was added
gene: IFIH1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: IFIH1 were set to Aicardi-Goutieres syndrome 7, MIM# 615846
Review for gene: IFIH1 was set to GREEN
Added comment: Gain of function variants.
Sources: Expert list
Autoinflammatory Disorders v0.27 ADAR Zornitza Stark Marked gene: ADAR as ready
Autoinflammatory Disorders v0.27 ADAR Zornitza Stark Gene: adar has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.27 ADAR Zornitza Stark Classified gene: ADAR as Green List (high evidence)
Autoinflammatory Disorders v0.27 ADAR Zornitza Stark Gene: adar has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.26 ADAR Zornitza Stark gene: ADAR was added
gene: ADAR was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6, MIM# 615010
Review for gene: ADAR was set to GREEN
Added comment: Sources: Expert list
Autoinflammatory Disorders v0.25 SAMHD1 Zornitza Stark Marked gene: SAMHD1 as ready
Autoinflammatory Disorders v0.25 SAMHD1 Zornitza Stark Gene: samhd1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.25 SAMHD1 Zornitza Stark Classified gene: SAMHD1 as Green List (high evidence)
Autoinflammatory Disorders v0.25 SAMHD1 Zornitza Stark Gene: samhd1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.24 SAMHD1 Zornitza Stark gene: SAMHD1 was added
gene: SAMHD1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAMHD1 were set to Aicardi-Goutieres syndrome 5, MIM# 612952
Review for gene: SAMHD1 was set to GREEN
Added comment: Sources: Expert list
Autoinflammatory Disorders v0.23 RNASEH2A Zornitza Stark Marked gene: RNASEH2A as ready
Autoinflammatory Disorders v0.23 RNASEH2A Zornitza Stark Gene: rnaseh2a has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.23 RNASEH2A Zornitza Stark Classified gene: RNASEH2A as Green List (high evidence)
Autoinflammatory Disorders v0.23 RNASEH2A Zornitza Stark Gene: rnaseh2a has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.22 RNASEH2A Zornitza Stark gene: RNASEH2A was added
gene: RNASEH2A was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2A were set to Aicardi-Goutieres syndrome 4, MIM# 610333
Review for gene: RNASEH2A was set to GREEN
Added comment: Sources: Expert list
Autoinflammatory Disorders v0.21 RNASEH2C Zornitza Stark Marked gene: RNASEH2C as ready
Autoinflammatory Disorders v0.21 RNASEH2C Zornitza Stark Gene: rnaseh2c has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.21 RNASEH2C Zornitza Stark Classified gene: RNASEH2C as Green List (high evidence)
Autoinflammatory Disorders v0.21 RNASEH2C Zornitza Stark Gene: rnaseh2c has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.20 RNASEH2C Zornitza Stark gene: RNASEH2C was added
gene: RNASEH2C was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2C were set to Aicardi-Goutieres syndrome 3, MIM# 610329
Review for gene: RNASEH2C was set to GREEN
Added comment: Sources: Expert list
Autoinflammatory Disorders v0.19 RNASEH2B Zornitza Stark Marked gene: RNASEH2B as ready
Autoinflammatory Disorders v0.19 RNASEH2B Zornitza Stark Gene: rnaseh2b has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.19 RNASEH2B Zornitza Stark Classified gene: RNASEH2B as Green List (high evidence)
Autoinflammatory Disorders v0.19 RNASEH2B Zornitza Stark Gene: rnaseh2b has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.18 RNASEH2B Zornitza Stark gene: RNASEH2B was added
gene: RNASEH2B was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2B were set to Aicardi-Goutieres syndrome 2, MIM# 610181
Review for gene: RNASEH2B was set to GREEN
Added comment: Sources: Expert list
Autoinflammatory Disorders v0.17 TREX1 Zornitza Stark Marked gene: TREX1 as ready
Autoinflammatory Disorders v0.17 TREX1 Zornitza Stark Gene: trex1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.17 TREX1 Zornitza Stark Classified gene: TREX1 as Green List (high evidence)
Autoinflammatory Disorders v0.17 TREX1 Zornitza Stark Gene: trex1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.16 TREX1 Zornitza Stark gene: TREX1 was added
gene: TREX1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: TREX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TREX1 were set to {Systemic lupus erythematosus, susceptibility to} 152700; Aicardi-Goutieres syndrome 1, dominant and recessive 225750
Review for gene: TREX1 was set to GREEN
Added comment: Sources: Expert list
Autoinflammatory Disorders v0.15 TMEM173 Zornitza Stark edited their review of gene: TMEM173: Changed phenotypes: STING-associated vasculopathy, infantile-onset, MIM# 615934; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.15 TMEM173 Zornitza Stark Marked gene: TMEM173 as ready
Autoinflammatory Disorders v0.15 TMEM173 Zornitza Stark Gene: tmem173 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.15 TMEM173 Zornitza Stark Mode of inheritance for gene: TMEM173 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.14 TMEM173 Zornitza Stark Classified gene: TMEM173 as Green List (high evidence)
Autoinflammatory Disorders v0.14 TMEM173 Zornitza Stark Gene: tmem173 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.13 TMEM173 Zornitza Stark gene: TMEM173 was added
gene: TMEM173 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: TMEM173 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM173 were set to 25401470; 25029335
Phenotypes for gene: TMEM173 were set to STING-associated vasculopathy, infantile-onset, MIM# 615934
Mode of pathogenicity for gene: TMEM173 was set to Other
Review for gene: TMEM173 was set to GREEN
Added comment: Four families reported.
Sources: Expert list
Autoinflammatory Disorders v0.12 Zornitza Stark Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease
Mendeliome v0.1987 HMOX1 Zornitza Stark reviewed gene: HMOX1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21088618, 9884342, 20844238; Phenotypes: Heme oxygenase-1 deficiency, MIM# 614034, Asplenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.18 HMOX1 Zornitza Stark Marked gene: HMOX1 as ready
Defects of intrinsic and innate immunity v0.18 HMOX1 Zornitza Stark Gene: hmox1 has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.18 HMOX1 Zornitza Stark Classified gene: HMOX1 as Amber List (moderate evidence)
Defects of intrinsic and innate immunity v0.18 HMOX1 Zornitza Stark Gene: hmox1 has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.17 HMOX1 Zornitza Stark gene: HMOX1 was added
gene: HMOX1 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: HMOX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HMOX1 were set to 21088618; 9884342; 20844238
Phenotypes for gene: HMOX1 were set to Heme oxygenase-1 deficiency, MIM# 614034; Asplenia
Review for gene: HMOX1 was set to AMBER
Added comment: Two families reported, functional data.
Sources: Expert list
Mendeliome v0.1987 TIRAP Zornitza Stark changed review comment from: No evidence currently for Mendelian disease association. Some evidence for polymorphisms in this gene influencing susceptibility/protection from infectious disease.; to: No evidence currently for Mendelian disease association. Some evidence for polymorphisms in this gene influencing susceptibility/protection from infectious disease. One family with 8 individuals and bi-allelic variants and susceptibility to staphylococcal disease reported.
Mendeliome v0.1987 TIRAP Zornitza Stark edited their review of gene: TIRAP: Changed publications: 28235196; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.16 TIRAP Zornitza Stark Marked gene: TIRAP as ready
Defects of intrinsic and innate immunity v0.16 TIRAP Zornitza Stark Gene: tirap has been classified as Red List (Low Evidence).
Defects of intrinsic and innate immunity v0.16 TIRAP Zornitza Stark gene: TIRAP was added
gene: TIRAP was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: TIRAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TIRAP were set to 28235196
Phenotypes for gene: TIRAP were set to Staphylococcal disease during childhood
Review for gene: TIRAP was set to RED
Added comment: Eight individuals from a single family.
Sources: Expert list
Mendeliome v0.1987 IRAK1 Zornitza Stark Marked gene: IRAK1 as ready
Mendeliome v0.1987 IRAK1 Zornitza Stark Gene: irak1 has been classified as Red List (Low Evidence).
Mendeliome v0.1987 IRAK1 Zornitza Stark Tag SV/CNV tag was added to gene: IRAK1.
Defects of intrinsic and innate immunity v0.15 IRAK1 Zornitza Stark Tag SV/CNV tag was added to gene: IRAK1.
Mendeliome v0.1987 IRAK1 Zornitza Stark gene: IRAK1 was added
gene: IRAK1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: IRAK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: IRAK1 were set to 28069966
Phenotypes for gene: IRAK1 were set to Susceptibility to bacterial infections
Review for gene: IRAK1 was set to RED
Added comment: Single individual with MECP2 and IRAK1 deletion, died in infancy, immunological phenotype not fully elucidated. In vitro studies.
Sources: Expert list
Defects of intrinsic and innate immunity v0.15 IRAK1 Zornitza Stark Marked gene: IRAK1 as ready
Defects of intrinsic and innate immunity v0.15 IRAK1 Zornitza Stark Gene: irak1 has been classified as Red List (Low Evidence).
Defects of intrinsic and innate immunity v0.15 IRAK1 Zornitza Stark gene: IRAK1 was added
gene: IRAK1 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: IRAK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: IRAK1 were set to 28069966
Phenotypes for gene: IRAK1 were set to Susceptibility to bacterial infections
Review for gene: IRAK1 was set to RED
Added comment: Single individual with MECP2 and IRAK1 deletion, died in infancy, immunological phenotype not fully elucidated. In vitro studies.
Sources: Expert list
Susceptibility to Viral Infections v0.22 DBR1 Zornitza Stark Marked gene: DBR1 as ready
Susceptibility to Viral Infections v0.22 DBR1 Zornitza Stark Gene: dbr1 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.22 DBR1 Zornitza Stark Classified gene: DBR1 as Green List (high evidence)
Susceptibility to Viral Infections v0.22 DBR1 Zornitza Stark Gene: dbr1 has been classified as Green List (High Evidence).
Mendeliome v0.1986 DBR1 Zornitza Stark Marked gene: DBR1 as ready
Mendeliome v0.1986 DBR1 Zornitza Stark Gene: dbr1 has been classified as Green List (High Evidence).
Mendeliome v0.1986 DBR1 Zornitza Stark Classified gene: DBR1 as Green List (high evidence)
Mendeliome v0.1986 DBR1 Zornitza Stark Gene: dbr1 has been classified as Green List (High Evidence).
Mendeliome v0.1985 DBR1 Zornitza Stark gene: DBR1 was added
gene: DBR1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: DBR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DBR1 were set to 29474921
Phenotypes for gene: DBR1 were set to Viral infections of the brainstem
Review for gene: DBR1 was set to GREEN
Added comment: Seven individuals from three unrelated families with viral brainstem encephalitis and bi-allelic hypomorphic variants.
Sources: Expert list
Susceptibility to Viral Infections v0.21 DBR1 Zornitza Stark gene: DBR1 was added
gene: DBR1 was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: DBR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DBR1 were set to 29474921
Phenotypes for gene: DBR1 were set to Viral infections of the brainstem
Review for gene: DBR1 was set to GREEN
Added comment: Seven individuals from three unrelated families with viral brainstem encephalitis and bi-allelic hypomorphic variants.
Sources: Expert list
Mendeliome v0.1984 POLR3F Zornitza Stark Marked gene: POLR3F as ready
Mendeliome v0.1984 POLR3F Zornitza Stark Gene: polr3f has been classified as Red List (Low Evidence).
Mendeliome v0.1984 POLR3F Zornitza Stark gene: POLR3F was added
gene: POLR3F was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: POLR3F was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR3F were set to 30211253
Phenotypes for gene: POLR3F were set to Severe VZV infection
Review for gene: POLR3F was set to RED
Added comment: Missense variant identified in a pair of monozygotic twins. Variant was paternally inherited.
Sources: Expert list
Susceptibility to Viral Infections v0.20 POLR3F Zornitza Stark Marked gene: POLR3F as ready
Susceptibility to Viral Infections v0.20 POLR3F Zornitza Stark Gene: polr3f has been classified as Red List (Low Evidence).
Susceptibility to Viral Infections v0.20 POLR3F Zornitza Stark gene: POLR3F was added
gene: POLR3F was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: POLR3F was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR3F were set to 30211253
Phenotypes for gene: POLR3F were set to Severe VZV infection
Review for gene: POLR3F was set to RED
Added comment: Missense variant identified in a pair of monozygotic twins. Variant was paternally inherited.
Sources: Expert list
Mendeliome v0.1983 POLR3C Zornitza Stark Marked gene: POLR3C as ready
Mendeliome v0.1983 POLR3C Zornitza Stark Gene: polr3c has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1983 POLR3C Zornitza Stark Classified gene: POLR3C as Amber List (moderate evidence)
Mendeliome v0.1983 POLR3C Zornitza Stark Gene: polr3c has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1982 POLR3C Zornitza Stark gene: POLR3C was added
gene: POLR3C was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: POLR3C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR3C were set to 28783042
Phenotypes for gene: POLR3C were set to Severe VZV infection
Review for gene: POLR3C was set to AMBER
Added comment: One individual with POLR3C variant and another individual with both POL3RA and POL3RC variants.
Sources: Expert list
Susceptibility to Viral Infections v0.19 POLR3C Zornitza Stark Classified gene: POLR3C as Amber List (moderate evidence)
Susceptibility to Viral Infections v0.19 POLR3C Zornitza Stark Gene: polr3c has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.18 POLR3C Zornitza Stark gene: POLR3C was added
gene: POLR3C was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: POLR3C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR3C were set to 28783042
Phenotypes for gene: POLR3C were set to Severe VZV infection
Review for gene: POLR3C was set to AMBER
Added comment: One individual with POLR3C variant and another individual with both POL3RA and POL3RC variants.
Sources: Expert list
Mendeliome v0.1981 POLR3A Zornitza Stark Marked gene: POLR3A as ready
Mendeliome v0.1981 POLR3A Zornitza Stark Gene: polr3a has been classified as Green List (High Evidence).
Mendeliome v0.1981 POLR3A Zornitza Stark Phenotypes for gene: POLR3A were changed from to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694; Wiedemann-Rautenstrauch syndrome, MIM# 264090; Susceptibility to severe VZV infection
Mendeliome v0.1980 POLR3A Zornitza Stark Mode of inheritance for gene: POLR3A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1979 POLR3A Zornitza Stark reviewed gene: POLR3A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694, Wiedemann-Rautenstrauch syndrome, MIM# 264090, Susceptibility to severe VZV infection; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.17 POLR3A Zornitza Stark Marked gene: POLR3A as ready
Susceptibility to Viral Infections v0.17 POLR3A Zornitza Stark Gene: polr3a has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.17 POLR3A Zornitza Stark Classified gene: POLR3A as Amber List (moderate evidence)
Susceptibility to Viral Infections v0.17 POLR3A Zornitza Stark Gene: polr3a has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.16 POLR3A Zornitza Stark gene: POLR3A was added
gene: POLR3A was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: POLR3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR3A were set to 28783042; 29728610
Phenotypes for gene: POLR3A were set to Severe VZV infection
Review for gene: POLR3A was set to AMBER
Added comment: Two individuals with mono allelic POLR3A variants and another individual with both POLR3A and a POLR3C variants reported.
Sources: Expert list
Susceptibility to Viral Infections v0.15 IFIH1 Zornitza Stark Marked gene: IFIH1 as ready
Susceptibility to Viral Infections v0.15 IFIH1 Zornitza Stark Gene: ifih1 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.15 IFIH1 Zornitza Stark Classified gene: IFIH1 as Green List (high evidence)
Susceptibility to Viral Infections v0.15 IFIH1 Zornitza Stark Gene: ifih1 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.14 IFIH1 Zornitza Stark gene: IFIH1 was added
gene: IFIH1 was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: IFIH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: IFIH1 were set to 28716935; 29018476
Phenotypes for gene: IFIH1 were set to Severe viral respiratory infections; Rhinovirus and other RNA viruses
Review for gene: IFIH1 was set to GREEN
Added comment: Three unrelated individuals with mono allelic LoF variants reported from a cohort of children admitted to ICU with severe respiratory infections (PMID:28716935). Another individual with bi-allelic variants and recurrent and prolonged infections also reported (PMID: 29018476)
Sources: Expert list
Mendeliome v0.1979 IFNAR2 Zornitza Stark Marked gene: IFNAR2 as ready
Mendeliome v0.1979 IFNAR2 Zornitza Stark Gene: ifnar2 has been classified as Red List (Low Evidence).
Mendeliome v0.1979 IFNAR2 Zornitza Stark Phenotypes for gene: IFNAR2 were changed from to Immunodeficiency 45, MIM# 616669
Mendeliome v0.1978 IFNAR2 Zornitza Stark Publications for gene: IFNAR2 were set to
Mendeliome v0.1977 IFNAR2 Zornitza Stark Mode of inheritance for gene: IFNAR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1976 IFNAR2 Zornitza Stark Classified gene: IFNAR2 as Red List (low evidence)
Mendeliome v0.1976 IFNAR2 Zornitza Stark Gene: ifnar2 has been classified as Red List (Low Evidence).
Mendeliome v0.1975 IFNAR2 Zornitza Stark reviewed gene: IFNAR2: Rating: RED; Mode of pathogenicity: None; Publications: 26424569; Phenotypes: Immunodeficiency 45, MIM# 616669; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.13 IFNAR2 Zornitza Stark Marked gene: IFNAR2 as ready
Susceptibility to Viral Infections v0.13 IFNAR2 Zornitza Stark Gene: ifnar2 has been classified as Red List (Low Evidence).
Susceptibility to Viral Infections v0.13 IFNAR2 Zornitza Stark gene: IFNAR2 was added
gene: IFNAR2 was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: IFNAR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFNAR2 were set to 26424569
Phenotypes for gene: IFNAR2 were set to Immunodeficiency 45, MIM# 616669
Review for gene: IFNAR2 was set to RED
Added comment: Single individual reported.
Sources: Expert list
Mendeliome v0.1975 IFNAR1 Zornitza Stark Marked gene: IFNAR1 as ready
Mendeliome v0.1975 IFNAR1 Zornitza Stark Gene: ifnar1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1975 IFNAR1 Zornitza Stark Classified gene: IFNAR1 as Amber List (moderate evidence)
Mendeliome v0.1975 IFNAR1 Zornitza Stark Gene: ifnar1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1974 IFNAR1 Zornitza Stark gene: IFNAR1 was added
gene: IFNAR1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: IFNAR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFNAR1 were set to 31270247
Phenotypes for gene: IFNAR1 were set to Severe disease caused by Yellow Fever vaccine and Measles vaccine
Review for gene: IFNAR1 was set to AMBER
Added comment: Two unrelated individuals reported with bi-allelic LoF variants, some functional data.
Sources: Expert list
Susceptibility to Viral Infections v0.12 IFNAR1 Zornitza Stark Marked gene: IFNAR1 as ready
Susceptibility to Viral Infections v0.12 IFNAR1 Zornitza Stark Gene: ifnar1 has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.12 IFNAR1 Zornitza Stark Classified gene: IFNAR1 as Amber List (moderate evidence)
Susceptibility to Viral Infections v0.12 IFNAR1 Zornitza Stark Gene: ifnar1 has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.11 IFNAR1 Zornitza Stark gene: IFNAR1 was added
gene: IFNAR1 was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: IFNAR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFNAR1 were set to 31270247
Phenotypes for gene: IFNAR1 were set to Severe disease caused by Yellow Fever vaccine and Measles vaccine
Review for gene: IFNAR1 was set to AMBER
Added comment: Two unrelated individuals reported with bi-allelic LoF variants, some functional data.
Sources: Expert list
Mendeliome v0.1973 IRF9 Zornitza Stark Marked gene: IRF9 as ready
Mendeliome v0.1973 IRF9 Zornitza Stark Gene: irf9 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1973 IRF9 Zornitza Stark Classified gene: IRF9 as Amber List (moderate evidence)
Mendeliome v0.1973 IRF9 Zornitza Stark Gene: irf9 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1972 IRF9 Zornitza Stark gene: IRF9 was added
gene: IRF9 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: IRF9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IRF9 were set to 30826365; 30143481
Phenotypes for gene: IRF9 were set to Immunodeficiency 65, susceptibility to viral infections 618648
Review for gene: IRF9 was set to AMBER
Added comment: Two families reported.
Sources: Expert list
Susceptibility to Viral Infections v0.10 IRF9 Zornitza Stark Marked gene: IRF9 as ready
Susceptibility to Viral Infections v0.10 IRF9 Zornitza Stark Gene: irf9 has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.10 IRF9 Zornitza Stark Classified gene: IRF9 as Amber List (moderate evidence)
Susceptibility to Viral Infections v0.10 IRF9 Zornitza Stark Gene: irf9 has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.9 IRF9 Zornitza Stark gene: IRF9 was added
gene: IRF9 was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: IRF9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IRF9 were set to 30826365; 30143481
Phenotypes for gene: IRF9 were set to Immunodeficiency 65, susceptibility to viral infections 618648
Review for gene: IRF9 was set to AMBER
Added comment: Two families reported.
Sources: Expert list
Susceptibility to Viral Infections v0.8 Zornitza Stark Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease
Mendeliome v0.1971 CIB1 Zornitza Stark Marked gene: CIB1 as ready
Mendeliome v0.1971 CIB1 Zornitza Stark Gene: cib1 has been classified as Green List (High Evidence).
Mendeliome v0.1971 CIB1 Zornitza Stark Classified gene: CIB1 as Green List (high evidence)
Mendeliome v0.1971 CIB1 Zornitza Stark Gene: cib1 has been classified as Green List (High Evidence).
Mendeliome v0.1970 CIB1 Zornitza Stark gene: CIB1 was added
gene: CIB1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: CIB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CIB1 were set to 30068544
Phenotypes for gene: CIB1 were set to Epidermodysplasia verruciformis 3 618267; HPV infections and cancer of the skin
Review for gene: CIB1 was set to GREEN
Added comment: 24 individuals from 6 families reported.
Sources: Expert list
Defects of intrinsic and innate immunity v0.14 CIB1 Zornitza Stark Marked gene: CIB1 as ready
Defects of intrinsic and innate immunity v0.14 CIB1 Zornitza Stark Gene: cib1 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.14 CIB1 Zornitza Stark Classified gene: CIB1 as Green List (high evidence)
Defects of intrinsic and innate immunity v0.14 CIB1 Zornitza Stark Gene: cib1 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.13 CIB1 Zornitza Stark gene: CIB1 was added
gene: CIB1 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: CIB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CIB1 were set to 30068544
Phenotypes for gene: CIB1 were set to Epidermodysplasia verruciformis 3 618267; HPV infections and cancer of the skin
Review for gene: CIB1 was set to GREEN
Added comment: 24 individuals from 6 families reported.
Sources: Expert list
Defects of intrinsic and innate immunity v0.12 JAK1 Zornitza Stark Marked gene: JAK1 as ready
Defects of intrinsic and innate immunity v0.12 JAK1 Zornitza Stark Gene: jak1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1969 JAK1 Zornitza Stark Phenotypes for gene: JAK1 were changed from Eosinophilia; Eosinophilic enteritis; Thyroid disease; Poor growth; Viral infections to Eosinophilia; Eosinophilic enteritis; Thyroid disease; Poor growth; Viral infections; Susceptibility to mycobacteria and viruses
Mendeliome v0.1968 JAK1 Zornitza Stark Publications for gene: JAK1 were set to 28111307
Mendeliome v0.1967 JAK1 Zornitza Stark Mode of inheritance for gene: JAK1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1966 JAK1 Zornitza Stark Classified gene: JAK1 as Amber List (moderate evidence)
Mendeliome v0.1966 JAK1 Zornitza Stark Gene: jak1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1965 JAK1 Zornitza Stark changed review comment from: Single family reported (mother and two children) with GoF variant.
Sources: Expert list; to: Single family reported (mother and two children) with GoF variant and immune dysregulation phenotype. Another individual reported with bi-allelic LoF and susceptibility to mycobacterial infections. Mouse model with NK defect.
Sources: Expert list
Mendeliome v0.1965 JAK1 Zornitza Stark edited their review of gene: JAK1: Changed rating: AMBER; Changed publications: 28111307, 28008925, 30671064; Changed phenotypes: Eosinophilia, Eosinophilic enteritis, Thyroid disease, Poor growth, Viral infections, Susceptibility to mycobacteria and viruses; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.12 JAK1 Zornitza Stark Classified gene: JAK1 as Amber List (moderate evidence)
Defects of intrinsic and innate immunity v0.12 JAK1 Zornitza Stark Gene: jak1 has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.11 JAK1 Zornitza Stark gene: JAK1 was added
gene: JAK1 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: JAK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JAK1 were set to 28008925; 30671064
Phenotypes for gene: JAK1 were set to Susceptibility to mycobacteria and viruses
Review for gene: JAK1 was set to AMBER
Added comment: Single individual reported, mouse model with NK cell defect.
Sources: Expert list
Mendeliome v0.1965 SPPL2A Zornitza Stark Marked gene: SPPL2A as ready
Mendeliome v0.1965 SPPL2A Zornitza Stark Gene: sppl2a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1965 SPPL2A Zornitza Stark Classified gene: SPPL2A as Amber List (moderate evidence)
Mendeliome v0.1965 SPPL2A Zornitza Stark Gene: sppl2a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1964 SPPL2A Zornitza Stark gene: SPPL2A was added
gene: SPPL2A was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SPPL2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPPL2A were set to 30127434
Phenotypes for gene: SPPL2A were set to Susceptibility to mycobacteria and Salmonella
Review for gene: SPPL2A was set to AMBER
Added comment: Three individuals from two unrelated consanguineous family with two different homozygous splice site variants, functional data.
Sources: Expert list
Defects of intrinsic and innate immunity v0.10 SPPL2A Zornitza Stark Marked gene: SPPL2A as ready
Defects of intrinsic and innate immunity v0.10 SPPL2A Zornitza Stark Gene: sppl2a has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.10 SPPL2A Zornitza Stark Classified gene: SPPL2A as Amber List (moderate evidence)
Defects of intrinsic and innate immunity v0.10 SPPL2A Zornitza Stark Gene: sppl2a has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.9 SPPL2A Zornitza Stark gene: SPPL2A was added
gene: SPPL2A was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: SPPL2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPPL2A were set to 30127434
Phenotypes for gene: SPPL2A were set to Susceptibility to mycobacteria and Salmonella
Review for gene: SPPL2A was set to AMBER
Added comment: Three individuals from two unrelated consanguineous family with two different homozygous splice site variants, functional data.
Sources: Expert list
Mendeliome v0.1963 IL23R Zornitza Stark Marked gene: IL23R as ready
Mendeliome v0.1963 IL23R Zornitza Stark Gene: il23r has been classified as Red List (Low Evidence).
Mendeliome v0.1963 IL23R Zornitza Stark Phenotypes for gene: IL23R were changed from to Susceptibility to mycobacteria and Salmonella
Mendeliome v0.1962 IL23R Zornitza Stark Publications for gene: IL23R were set to
Mendeliome v0.1961 IL23R Zornitza Stark Mode of inheritance for gene: IL23R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1960 IL23R Zornitza Stark Classified gene: IL23R as Red List (low evidence)
Mendeliome v0.1960 IL23R Zornitza Stark Gene: il23r has been classified as Red List (Low Evidence).
Mendeliome v0.1959 IL23R Zornitza Stark reviewed gene: IL23R: Rating: RED; Mode of pathogenicity: None; Publications: 30578351; Phenotypes: Susceptibility to mycobacteria and Salmonella; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.8 IL23R Zornitza Stark Marked gene: IL23R as ready
Defects of intrinsic and innate immunity v0.8 IL23R Zornitza Stark Gene: il23r has been classified as Red List (Low Evidence).
Defects of intrinsic and innate immunity v0.8 IL23R Zornitza Stark gene: IL23R was added
gene: IL23R was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: IL23R was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL23R were set to 30578351
Phenotypes for gene: IL23R were set to Susceptibility to mycobacteria and Salmonella
Review for gene: IL23R was set to RED
Added comment: Single family reported.
Sources: Expert list
Mendeliome v0.1959 IL12RB2 Zornitza Stark Marked gene: IL12RB2 as ready
Mendeliome v0.1959 IL12RB2 Zornitza Stark Gene: il12rb2 has been classified as Red List (Low Evidence).
Mendeliome v0.1959 IL12RB2 Zornitza Stark gene: IL12RB2 was added
gene: IL12RB2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: IL12RB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL12RB2 were set to 30578351
Phenotypes for gene: IL12RB2 were set to Susceptibility to mycobacteria and Salmonella
Review for gene: IL12RB2 was set to RED
Added comment: Single individual reported, some functional data.
Sources: Expert list
Dystonia and Chorea v0.20 GAMT Bryony Thompson gene: GAMT was added
gene: GAMT was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAMT were set to 19027335
Phenotypes for gene: GAMT were set to Cerebral creatine deficiency syndrome 2 MIM#612736
Review for gene: GAMT was set to RED
Added comment: Dystonia is not a prominent feature of the condition. A single case has been reported with dystonia as part of the phenotype.
Sources: Expert list
Defects of intrinsic and innate immunity v0.7 IL12RB2 Zornitza Stark Marked gene: IL12RB2 as ready
Defects of intrinsic and innate immunity v0.7 IL12RB2 Zornitza Stark Gene: il12rb2 has been classified as Red List (Low Evidence).
Defects of intrinsic and innate immunity v0.7 IL12RB2 Zornitza Stark gene: IL12RB2 was added
gene: IL12RB2 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: IL12RB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL12RB2 were set to 30578351
Phenotypes for gene: IL12RB2 were set to Susceptibility to mycobacteria and Salmonella
Review for gene: IL12RB2 was set to RED
Added comment: Single individual reported, some functional data.
Sources: Expert list
Dystonia and Chorea v0.19 FBXL4 Bryony Thompson Marked gene: FBXL4 as ready
Dystonia and Chorea v0.19 FBXL4 Bryony Thompson Gene: fbxl4 has been classified as Amber List (Moderate Evidence).
Dystonia and Chorea v0.19 FBXL4 Bryony Thompson Classified gene: FBXL4 as Amber List (moderate evidence)
Dystonia and Chorea v0.19 FBXL4 Bryony Thompson Gene: fbxl4 has been classified as Amber List (Moderate Evidence).
Dystonia and Chorea v0.18 FBXL4 Bryony Thompson changed review comment from: Cannot find evidence that dystonia is a prominent feature of the condition.
Sources: Expert list; to: Dystonia is a feature of the phenotype in three out of nine cases with biallelic variants.
Sources: Expert list
Dystonia and Chorea v0.18 FBXL4 Bryony Thompson edited their review of gene: FBXL4: Changed rating: AMBER
Dystonia and Chorea v0.18 FBXL4 Bryony Thompson gene: FBXL4 was added
gene: FBXL4 was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: FBXL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBXL4 were set to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471
Review for gene: FBXL4 was set to RED
Added comment: Cannot find evidence that dystonia is a prominent feature of the condition.
Sources: Expert list
Dystonia and Chorea v0.17 EARS2 Bryony Thompson gene: EARS2 was added
gene: EARS2 was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: EARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EARS2 were set to 22492562
Phenotypes for gene: EARS2 were set to Combined oxidative phosphorylation deficiency 12 MIM#614924
Review for gene: EARS2 was set to RED
Added comment: Dystonia does not appear to be a prominent feature of the condition.
Sources: Expert list
Dystonia and Chorea v0.16 DCTN1 Bryony Thompson Marked gene: DCTN1 as ready
Dystonia and Chorea v0.16 DCTN1 Bryony Thompson Gene: dctn1 has been classified as Red List (Low Evidence).
Dystonia and Chorea v0.16 DCTN1 Bryony Thompson gene: DCTN1 was added
gene: DCTN1 was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: DCTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DCTN1 were set to 24343258
Phenotypes for gene: DCTN1 were set to Perry syndrome MIM#168605
Review for gene: DCTN1 was set to RED
Added comment: Dystonia is reported in two out of eight cases in a single family.
Sources: Expert list
Defects of intrinsic and innate immunity v0.6 Zornitza Stark Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease
Dystonia and Chorea v0.15 CHMP2B Bryony Thompson reviewed gene: CHMP2B: Rating: RED; Mode of pathogenicity: None; Publications: 12451202; Phenotypes: Dementia, familial, nonspecific MIM#600795; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1958 C17orf62 Zornitza Stark Marked gene: C17orf62 as ready
Mendeliome v0.1958 C17orf62 Zornitza Stark Gene: c17orf62 has been classified as Green List (High Evidence).
Mendeliome v0.1958 C17orf62 Zornitza Stark Classified gene: C17orf62 as Green List (high evidence)
Mendeliome v0.1958 C17orf62 Zornitza Stark Gene: c17orf62 has been classified as Green List (High Evidence).
Mendeliome v0.1957 C17orf62 Zornitza Stark gene: C17orf62 was added
gene: C17orf62 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: C17orf62 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C17orf62 were set to 30361506; 30312704; 28351984
Phenotypes for gene: C17orf62 were set to Chronic granulomatous disease
Review for gene: C17orf62 was set to GREEN
Added comment: Seven Icelandic families reported with same homozygous variant, p.Tyr2Ter and an additional family from different ethnic background with different homozygous splice site variant. Functional data, including mouse model. Gene also known as EROS and CYBC1 (HGNC approved name)
Sources: Expert list
Phagocyte Defects v0.27 C17orf62 Zornitza Stark Marked gene: C17orf62 as ready
Phagocyte Defects v0.27 C17orf62 Zornitza Stark Gene: c17orf62 has been classified as Green List (High Evidence).
Phagocyte Defects v0.27 C17orf62 Zornitza Stark Classified gene: C17orf62 as Green List (high evidence)
Phagocyte Defects v0.27 C17orf62 Zornitza Stark Gene: c17orf62 has been classified as Green List (High Evidence).
Phagocyte Defects v0.26 C17orf62 Zornitza Stark gene: C17orf62 was added
gene: C17orf62 was added to Phagocyte Defects. Sources: Expert list
Mode of inheritance for gene: C17orf62 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C17orf62 were set to 30361506; 30312704; 28351984
Phenotypes for gene: C17orf62 were set to Chronic granulomatous disease
Review for gene: C17orf62 was set to GREEN
Added comment: Seven Icelandic families reported with same homozygous variant, p.Tyr2Ter and an additional family from different ethnic background with different homozygous splice site variant. Functional data, including mouse model. Gene also known as EROS and CYBC1 (HGNC approved name).
Sources: Expert list
Mendeliome v0.1956 MKL1 Zornitza Stark Marked gene: MKL1 as ready
Mendeliome v0.1956 MKL1 Zornitza Stark Gene: mkl1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1956 MKL1 Zornitza Stark Classified gene: MKL1 as Amber List (moderate evidence)
Mendeliome v0.1956 MKL1 Zornitza Stark Gene: mkl1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1955 MKL1 Zornitza Stark gene: MKL1 was added
gene: MKL1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MKL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MKL1 were set to 32128589; 26224645
Phenotypes for gene: MKL1 were set to Neutropaenia with combined immune deficiency
Review for gene: MKL1 was set to AMBER
Added comment: Two unrelated families reported.
Sources: Expert list
Phagocyte Defects v0.25 MKL1 Zornitza Stark Classified gene: MKL1 as Amber List (moderate evidence)
Phagocyte Defects v0.25 MKL1 Zornitza Stark Gene: mkl1 has been classified as Amber List (Moderate Evidence).
Phagocyte Defects v0.24 MKL1 Zornitza Stark gene: MKL1 was added
gene: MKL1 was added to Phagocyte Defects. Sources: Expert list
Mode of inheritance for gene: MKL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MKL1 were set to 32128589; 26224645
Phenotypes for gene: MKL1 were set to Neutropaenia with combined immune deficiency
Review for gene: MKL1 was set to AMBER
Added comment: Two unrelated families reported.
Sources: Expert list
Phagocyte Defects v0.23 WDR1 Zornitza Stark Phenotypes for gene: WDR1 were changed from Neutrpaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate to Neutropaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate
Phagocyte Defects v0.22 WDR1 Zornitza Stark Marked gene: WDR1 as ready
Phagocyte Defects v0.22 WDR1 Zornitza Stark Gene: wdr1 has been classified as Green List (High Evidence).
Phagocyte Defects v0.22 WDR1 Zornitza Stark Phenotypes for gene: WDR1 were changed from to Neutrpaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate
Phagocyte Defects v0.21 WDR1 Zornitza Stark Classified gene: WDR1 as Green List (high evidence)
Phagocyte Defects v0.21 WDR1 Zornitza Stark Gene: wdr1 has been classified as Green List (High Evidence).
Phagocyte Defects v0.20 WDR1 Zornitza Stark gene: WDR1 was added
gene: WDR1 was added to Phagocyte Defects. Sources: Expert list
Mode of inheritance for gene: WDR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR1 were set to 27994071; 27557945; 29751004
Review for gene: WDR1 was set to GREEN
Added comment: Seven families reported with immunological phenotypes and bi-allelic variants in this gene, three of these had a predominantly phagocyte/neutrophil defects.
Sources: Expert list
Dystonia and Chorea v0.15 CACNA1A Bryony Thompson Classified gene: CACNA1A as Green List (high evidence)
Dystonia and Chorea v0.15 CACNA1A Bryony Thompson Gene: cacna1a has been classified as Green List (High Evidence).
Dystonia and Chorea v0.14 CACNA1A Bryony Thompson gene: CACNA1A was added
gene: CACNA1A was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1A were set to 25468264; 23441182; 19232643; 18758887; 11344116
Phenotypes for gene: CACNA1A were set to Episodic ataxia, type 2 MIM#108500; Spinocerebellar ataxia 6 MIM#183086
Review for gene: CACNA1A was set to GREEN
Added comment: At least four families where dystonia is a feature of the condition (complex dystonia phenotype), and knockout mouse model also has dystonia as a feature of the phenotype.
Sources: Expert list
Phagocyte Defects v0.19 RAC2 Zornitza Stark Marked gene: RAC2 as ready
Phagocyte Defects v0.19 RAC2 Zornitza Stark Gene: rac2 has been classified as Green List (High Evidence).
Phagocyte Defects v0.19 RAC2 Zornitza Stark Phenotypes for gene: RAC2 were changed from to Neutrophil immunodeficiency syndrome, MIM# 608203; Common variable immunodeficiency
Phagocyte Defects v0.18 RAC2 Zornitza Stark Publications for gene: RAC2 were set to
Phagocyte Defects v0.18 RAC2 Zornitza Stark Mode of inheritance for gene: RAC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phagocyte Defects v0.17 RAC2 Zornitza Stark reviewed gene: RAC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25512081; Phenotypes: Neutrophil immunodeficiency syndrome, MIM# 608203, Common variable immunodeficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Predominantly Antibody Deficiency v0.31 RAC2 Zornitza Stark edited their review of gene: RAC2: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phagocyte Defects v0.17 SRP54 Zornitza Stark Marked gene: SRP54 as ready
Phagocyte Defects v0.17 SRP54 Zornitza Stark Gene: srp54 has been classified as Green List (High Evidence).
Phagocyte Defects v0.17 SRP54 Zornitza Stark Classified gene: SRP54 as Green List (high evidence)
Phagocyte Defects v0.17 SRP54 Zornitza Stark Gene: srp54 has been classified as Green List (High Evidence).
Phagocyte Defects v0.16 SRP54 Zornitza Stark gene: SRP54 was added
gene: SRP54 was added to Phagocyte Defects. Sources: Expert list
Mode of inheritance for gene: SRP54 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SRP54 were set to 29914977; 28972538
Phenotypes for gene: SRP54 were set to Neutropenia, severe congenital, 8, autosomal dominant, MIM# 618752
Review for gene: SRP54 was set to GREEN
Added comment: Over 25 individuals reported with Shwachman-Diamond like phenotype.
Sources: Expert list
Mendeliome v0.1954 HYOU1 Zornitza Stark Marked gene: HYOU1 as ready
Mendeliome v0.1954 HYOU1 Zornitza Stark Gene: hyou1 has been classified as Red List (Low Evidence).
Mendeliome v0.1954 HYOU1 Zornitza Stark gene: HYOU1 was added
gene: HYOU1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: HYOU1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HYOU1 were set to 27913302
Phenotypes for gene: HYOU1 were set to Immunodeficiency 59 and hypoglycemia, MIM# 233600
Review for gene: HYOU1 was set to RED
Added comment: Single individual reported.
Sources: Expert list
Phagocyte Defects v0.15 HYOU1 Zornitza Stark Marked gene: HYOU1 as ready
Phagocyte Defects v0.15 HYOU1 Zornitza Stark Gene: hyou1 has been classified as Red List (Low Evidence).
Phagocyte Defects v0.15 HYOU1 Zornitza Stark gene: HYOU1 was added
gene: HYOU1 was added to Phagocyte Defects. Sources: Expert list
Mode of inheritance for gene: HYOU1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HYOU1 were set to 27913302
Phenotypes for gene: HYOU1 were set to Immunodeficiency 59 and hypoglycemia, MIM# 233600
Review for gene: HYOU1 was set to RED
Added comment: Single individual reported.
Sources: Expert list
Phagocyte Defects v0.14 EFL1 Zornitza Stark Marked gene: EFL1 as ready
Phagocyte Defects v0.14 EFL1 Zornitza Stark Gene: efl1 has been classified as Green List (High Evidence).
Phagocyte Defects v0.14 EFL1 Zornitza Stark Classified gene: EFL1 as Green List (high evidence)
Phagocyte Defects v0.14 EFL1 Zornitza Stark Gene: efl1 has been classified as Green List (High Evidence).
Phagocyte Defects v0.13 EFL1 Zornitza Stark gene: EFL1 was added
gene: EFL1 was added to Phagocyte Defects. Sources: Expert list
Mode of inheritance for gene: EFL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EFL1 were set to 28331068; 31151987
Phenotypes for gene: EFL1 were set to Shwachman-Diamond syndrome 2, MIM# 617941
Review for gene: EFL1 was set to GREEN
Added comment: Six unrelated families reported, two had the same homozygous variant, one family single variant plus 'expression defect' identified.
Sources: Expert list
Phagocyte Defects v0.12 DNAJC21 Zornitza Stark Marked gene: DNAJC21 as ready
Phagocyte Defects v0.12 DNAJC21 Zornitza Stark Gene: dnajc21 has been classified as Green List (High Evidence).
Phagocyte Defects v0.12 DNAJC21 Zornitza Stark Classified gene: DNAJC21 as Green List (high evidence)
Phagocyte Defects v0.12 DNAJC21 Zornitza Stark Gene: dnajc21 has been classified as Green List (High Evidence).
Phagocyte Defects v0.11 DNAJC21 Zornitza Stark gene: DNAJC21 was added
gene: DNAJC21 was added to Phagocyte Defects. Sources: Expert list
Mode of inheritance for gene: DNAJC21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC21 were set to 29700810; 28062395; 27346687
Phenotypes for gene: DNAJC21 were set to Bone marrow failure syndrome 3, MIM# 617052; Short stature; Exocrine pancreatic insufficiency; Pancytopaenia; Shwachman-Diamond syndrome
Review for gene: DNAJC21 was set to GREEN
Added comment: Over ten unrelated families reported.
Sources: Expert list
Mendeliome v0.1953 SMARCD2 Zornitza Stark Marked gene: SMARCD2 as ready
Mendeliome v0.1953 SMARCD2 Zornitza Stark Gene: smarcd2 has been classified as Green List (High Evidence).
Mendeliome v0.1953 SMARCD2 Zornitza Stark Classified gene: SMARCD2 as Green List (high evidence)
Mendeliome v0.1953 SMARCD2 Zornitza Stark Gene: smarcd2 has been classified as Green List (High Evidence).
Mendeliome v0.1952 SMARCD2 Zornitza Stark gene: SMARCD2 was added
gene: SMARCD2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SMARCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMARCD2 were set to 28369036; 28369034
Phenotypes for gene: SMARCD2 were set to Specific granule deficiency 2, MIM# 617475; Neutropaenia; Neurodevelopmental abnormalities in some; Myelodysplasia
Review for gene: SMARCD2 was set to GREEN
Added comment: Three unrelated families and functional data.
Sources: Expert list
Phagocyte Defects v0.10 SMARCD2 Zornitza Stark Marked gene: SMARCD2 as ready
Phagocyte Defects v0.10 SMARCD2 Zornitza Stark Gene: smarcd2 has been classified as Green List (High Evidence).
Phagocyte Defects v0.10 SMARCD2 Zornitza Stark Classified gene: SMARCD2 as Green List (high evidence)
Phagocyte Defects v0.10 SMARCD2 Zornitza Stark Gene: smarcd2 has been classified as Green List (High Evidence).
Phagocyte Defects v0.9 SMARCD2 Zornitza Stark gene: SMARCD2 was added
gene: SMARCD2 was added to Phagocyte Defects. Sources: Expert list
Mode of inheritance for gene: SMARCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMARCD2 were set to 28369036; 28369034
Phenotypes for gene: SMARCD2 were set to Specific granule deficiency 2, MIM# 617475; Neutropaenia; Neurodevelopmental abnormalities in some; Myelodysplasia
Review for gene: SMARCD2 was set to GREEN
Added comment: Three unrelated families and functional data.
Sources: Expert list
Dystonia and Chorea v0.13 AFG3L2 Bryony Thompson gene: AFG3L2 was added
gene: AFG3L2 was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: AFG3L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AFG3L2 were set to 22964162; 16541453
Phenotypes for gene: AFG3L2 were set to Spastic ataxia 5, autosomal recessive MIM#614487
Review for gene: AFG3L2 was set to RED
Added comment: Dystonia is not a prominent feature of this condition. There is a single family reported with complex dystonia. Dystonia was previously observed in a family whose affected members carried an 18p chromosomal deletion that included AFG3L2.
Sources: Expert list
Phagocyte Defects v0.8 Zornitza Stark Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease
Disorders of immune dysregulation v0.45 MAGT1 Zornitza Stark Marked gene: MAGT1 as ready
Disorders of immune dysregulation v0.45 MAGT1 Zornitza Stark Gene: magt1 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.45 MAGT1 Zornitza Stark Classified gene: MAGT1 as Green List (high evidence)
Disorders of immune dysregulation v0.45 MAGT1 Zornitza Stark Gene: magt1 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.44 MAGT1 Zornitza Stark gene: MAGT1 was added
gene: MAGT1 was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: MAGT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MAGT1 were set to 31036665; 25504528; 21796205; 24550228; 25956530
Phenotypes for gene: MAGT1 were set to Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, MIM# 300853
Review for gene: MAGT1 was set to GREEN
Added comment: Multiple unrelated individuals reported, some overlap with the CDG associated with his gene.
Sources: Expert list
Disorders of immune dysregulation v0.43 ITK Zornitza Stark Marked gene: ITK as ready
Disorders of immune dysregulation v0.43 ITK Zornitza Stark Gene: itk has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.43 ITK Zornitza Stark Classified gene: ITK as Green List (high evidence)
Disorders of immune dysregulation v0.43 ITK Zornitza Stark Gene: itk has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.42 ITK Zornitza Stark gene: ITK was added
gene: ITK was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: ITK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITK were set to 19425169; 22289921; 21109689
Phenotypes for gene: ITK were set to Lymphoproliferative syndrome 1, MIM# 613011; EBV associated B call lymphoproliferation, lymphoma
Review for gene: ITK was set to GREEN
Added comment: At least three unrelated families reported.
Sources: Expert list
Mendeliome v0.1951 TNFRSF9 Zornitza Stark Marked gene: TNFRSF9 as ready
Mendeliome v0.1951 TNFRSF9 Zornitza Stark Gene: tnfrsf9 has been classified as Green List (High Evidence).
Mendeliome v0.1951 TNFRSF9 Zornitza Stark Classified gene: TNFRSF9 as Green List (high evidence)
Mendeliome v0.1951 TNFRSF9 Zornitza Stark Gene: tnfrsf9 has been classified as Green List (High Evidence).
Mendeliome v0.1950 TNFRSF9 Zornitza Stark gene: TNFRSF9 was added
gene: TNFRSF9 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: TNFRSF9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNFRSF9 were set to 30872117; 31501153
Phenotypes for gene: TNFRSF9 were set to EBV lymphoproliferation; B-cell lymphoma; Chronic active EBV infection
Review for gene: TNFRSF9 was set to GREEN
Added comment: Six unrelated individuals, two with same homozygous G109S missense variant, functional data.
Sources: Expert list
Dystonia and Chorea v0.12 Bryony Thompson Panel name changed from Dystonia - complex_RMH to Dystonia - complex
Panel types changed to Royal Melbourne Hospital; Rare Disease
Disorders of immune dysregulation v0.41 TNFRSF9 Zornitza Stark Marked gene: TNFRSF9 as ready
Disorders of immune dysregulation v0.41 TNFRSF9 Zornitza Stark Gene: tnfrsf9 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.41 TNFRSF9 Zornitza Stark Classified gene: TNFRSF9 as Green List (high evidence)
Disorders of immune dysregulation v0.41 TNFRSF9 Zornitza Stark Gene: tnfrsf9 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.40 TNFRSF9 Zornitza Stark changed review comment from: Two unrelated individuals with same homozygous G109S missense variant, some functional data.
Sources: Expert list; to: Six unrelated individuals, two with same homozygous G109S missense variant, functional data.
Sources: Expert list
Disorders of immune dysregulation v0.40 TNFRSF9 Zornitza Stark edited their review of gene: TNFRSF9: Changed rating: GREEN; Changed publications: 30872117, 31501153
Disorders of immune dysregulation v0.40 TNFRSF9 Zornitza Stark gene: TNFRSF9 was added
gene: TNFRSF9 was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: TNFRSF9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNFRSF9 were set to 30872117
Phenotypes for gene: TNFRSF9 were set to EBV lymphoproliferation; B-cell lymphoma; Chronic active EBV infection
Review for gene: TNFRSF9 was set to RED
Added comment: Two unrelated individuals with same homozygous G109S missense variant, some functional data.
Sources: Expert list
Mendeliome v0.1949 CTPS1 Zornitza Stark Marked gene: CTPS1 as ready
Mendeliome v0.1949 CTPS1 Zornitza Stark Gene: ctps1 has been classified as Green List (High Evidence).
Mendeliome v0.1949 CTPS1 Zornitza Stark Phenotypes for gene: CTPS1 were changed from to Immunodeficiency 24, MIM# 615897; Recurrent/chronic bacterial and viral infections (EBV, VZV); EBV lymphoproliferation; B-cell non-Hodgkin lymphoma
Mendeliome v0.1948 CTPS1 Zornitza Stark Publications for gene: CTPS1 were set to
Mendeliome v0.1947 CTPS1 Zornitza Stark Mode of inheritance for gene: CTPS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1946 CTPS1 Zornitza Stark reviewed gene: CTPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24870241; Phenotypes: Immunodeficiency 24, MIM# 615897, Recurrent/chronic bacterial and viral infections (EBV, VZV), EBV lymphoproliferation, B-cell non-Hodgkin lymphoma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.39 CTPS1 Zornitza Stark Marked gene: CTPS1 as ready
Disorders of immune dysregulation v0.39 CTPS1 Zornitza Stark Gene: ctps1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.97 CTPS1 Zornitza Stark Marked gene: CTPS1 as ready
Combined Immunodeficiency v0.97 CTPS1 Zornitza Stark Gene: ctps1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.97 CTPS1 Zornitza Stark Phenotypes for gene: CTPS1 were changed from to Immunodeficiency 24, MIM# 615897; Recurrent/chronic bacterial and viral infections (EBV, VZV); EBV lymphoproliferation; B-cell non-Hodgkin lymphoma
Combined Immunodeficiency v0.96 CTPS1 Zornitza Stark Publications for gene: CTPS1 were set to
Combined Immunodeficiency v0.95 CTPS1 Zornitza Stark Mode of inheritance for gene: CTPS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.94 CTPS1 Zornitza Stark reviewed gene: CTPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24870241; Phenotypes: Immunodeficiency 24, MIM# 615897, Recurrent/chronic bacterial and viral infections (EBV, VZV), EBV lymphoproliferation, B-cell non-Hodgkin lymphoma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.39 CTPS1 Zornitza Stark Classified gene: CTPS1 as Green List (high evidence)
Disorders of immune dysregulation v0.39 CTPS1 Zornitza Stark Gene: ctps1 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.38 CTPS1 Zornitza Stark gene: CTPS1 was added
gene: CTPS1 was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: CTPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTPS1 were set to 24870241
Phenotypes for gene: CTPS1 were set to Immunodeficiency 24, MIM# 615897; Recurrent/chronic bacterial and viral infections (EBV, VZV); EBV lymphoproliferation; B-cell non-Hodgkin lymphoma
Review for gene: CTPS1 was set to GREEN
Added comment: At least 5 families reported.
Sources: Expert list
Disorders of immune dysregulation v0.37 CD27 Zornitza Stark Marked gene: CD27 as ready
Disorders of immune dysregulation v0.37 CD27 Zornitza Stark Gene: cd27 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.37 CD27 Zornitza Stark Classified gene: CD27 as Green List (high evidence)
Disorders of immune dysregulation v0.37 CD27 Zornitza Stark Gene: cd27 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.36 CD27 Zornitza Stark gene: CD27 was added
gene: CD27 was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: CD27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD27 were set to 22801960; 22197273
Phenotypes for gene: CD27 were set to Lymphoproliferative syndrome 2, MIM# 615122
Review for gene: CD27 was set to GREEN
Added comment: At least four families reported.
Sources: Expert list
Disorders of immune dysregulation v0.35 TGFB1 Zornitza Stark Marked gene: TGFB1 as ready
Disorders of immune dysregulation v0.35 TGFB1 Zornitza Stark Gene: tgfb1 has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.35 TGFB1 Zornitza Stark Classified gene: TGFB1 as Amber List (moderate evidence)
Disorders of immune dysregulation v0.35 TGFB1 Zornitza Stark Gene: tgfb1 has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.34 TGFB1 Zornitza Stark gene: TGFB1 was added
gene: TGFB1 was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: TGFB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TGFB1 were set to 29483653
Phenotypes for gene: TGFB1 were set to Inflammatory bowel disease, immunodeficiency, and encephalopathy MIM# 618213
Review for gene: TGFB1 was set to AMBER
Added comment: Two families and some functional data.
Sources: Expert list
Mendeliome v0.1946 JAK1 Zornitza Stark Marked gene: JAK1 as ready
Mendeliome v0.1946 JAK1 Zornitza Stark Gene: jak1 has been classified as Red List (Low Evidence).
Mendeliome v0.1946 JAK1 Zornitza Stark gene: JAK1 was added
gene: JAK1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: JAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: JAK1 were set to 28111307
Phenotypes for gene: JAK1 were set to Eosinophilia; Eosinophilic enteritis; Thyroid disease; Poor growth; Viral infections
Review for gene: JAK1 was set to RED
Added comment: Single family reported (mother and two children) with GoF variant.
Sources: Expert list
Disorders of immune dysregulation v0.33 JAK1 Zornitza Stark Marked gene: JAK1 as ready
Disorders of immune dysregulation v0.33 JAK1 Zornitza Stark Gene: jak1 has been classified as Red List (Low Evidence).
Disorders of immune dysregulation v0.33 JAK1 Zornitza Stark gene: JAK1 was added
gene: JAK1 was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: JAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: JAK1 were set to 28111307
Phenotypes for gene: JAK1 were set to Eosinophilia; Eosinophilic enteritis; Thyroid disease; Poor growth; Viral infections
Mode of pathogenicity for gene: JAK1 was set to Other
Review for gene: JAK1 was set to RED
Added comment: Single family reported (mother and two children) with GoF variant.
Sources: Expert list
Disorders of immune dysregulation v0.32 LRBA Zornitza Stark Marked gene: LRBA as ready
Disorders of immune dysregulation v0.32 LRBA Zornitza Stark Gene: lrba has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.32 LRBA Zornitza Stark Classified gene: LRBA as Green List (high evidence)
Disorders of immune dysregulation v0.32 LRBA Zornitza Stark Gene: lrba has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.31 LRBA Zornitza Stark gene: LRBA was added
gene: LRBA was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRBA were set to 22721650; 25468195; 26206937; 22608502
Phenotypes for gene: LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity, MIM# 614700; Recurrent infections; Inflammatory bowel disease; Autoimmunity; EBV infections
Review for gene: LRBA was set to GREEN
Added comment: Sources: Expert list
Mendeliome v0.1945 IL2RB Zornitza Stark Marked gene: IL2RB as ready
Mendeliome v0.1945 IL2RB Zornitza Stark Gene: il2rb has been classified as Green List (High Evidence).
Mendeliome v0.1945 IL2RB Zornitza Stark Classified gene: IL2RB as Green List (high evidence)
Mendeliome v0.1945 IL2RB Zornitza Stark Gene: il2rb has been classified as Green List (High Evidence).
Mendeliome v0.1944 IL2RB Zornitza Stark gene: IL2RB was added
gene: IL2RB was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: IL2RB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL2RB were set to 31040184; 31040185
Phenotypes for gene: IL2RB were set to Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM# 618495; Lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune haemolytic anaemia, dermatitis, enteropathy, hypergammaglobulinaemia, recurrent viral (EBV, CMV) infections
Review for gene: IL2RB was set to GREEN
Added comment: Five families reported.
Sources: Expert list
Disorders of immune dysregulation v0.30 IL2RB Zornitza Stark Marked gene: IL2RB as ready
Disorders of immune dysregulation v0.30 IL2RB Zornitza Stark Gene: il2rb has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.30 IL2RB Zornitza Stark Classified gene: IL2RB as Green List (high evidence)
Disorders of immune dysregulation v0.30 IL2RB Zornitza Stark Gene: il2rb has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.29 IL2RB Zornitza Stark gene: IL2RB was added
gene: IL2RB was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: IL2RB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL2RB were set to 31040184; 31040185
Phenotypes for gene: IL2RB were set to Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM# 618495; Lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune haemolytic anaemia, dermatitis, enteropathy, hypergammaglobulinaemia, recurrent viral (EBV, CMV) infections
Review for gene: IL2RB was set to GREEN
Added comment: Five families reported.
Sources: Expert list
Mendeliome v0.1943 AP3D1 Zornitza Stark Marked gene: AP3D1 as ready
Mendeliome v0.1943 AP3D1 Zornitza Stark Gene: ap3d1 has been classified as Red List (Low Evidence).
Mendeliome v0.1943 AP3D1 Zornitza Stark gene: AP3D1 was added
gene: AP3D1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: AP3D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP3D1 were set to 26744459; 9697856
Phenotypes for gene: AP3D1 were set to Hermansky-Pudlak syndrome 10, MIM# 617050; Oculocutaneous albinism; Severe neutropaenia; Recurrent infections; Seizures; Hearing loss; Neurodevelopmental delay
Review for gene: AP3D1 was set to RED
Added comment: Single family and a mouse model.
Sources: Expert list
Disorders of immune dysregulation v0.28 AP3D1 Zornitza Stark Marked gene: AP3D1 as ready
Disorders of immune dysregulation v0.28 AP3D1 Zornitza Stark Gene: ap3d1 has been classified as Red List (Low Evidence).
Disorders of immune dysregulation v0.28 AP3D1 Zornitza Stark gene: AP3D1 was added
gene: AP3D1 was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: AP3D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP3D1 were set to 26744459; 9697856
Phenotypes for gene: AP3D1 were set to Hermansky-Pudlak syndrome 10, MIM# 617050; Oculocutaneous albinism; Severe neutropaenia; Recurrent infections; Seizures; Hearing loss; Neurodevelopmental delay
Review for gene: AP3D1 was set to RED
Added comment: Single family and a mouse model.
Sources: Expert list
Disorders of immune dysregulation v0.27 SLC7A7 Zornitza Stark Marked gene: SLC7A7 as ready
Disorders of immune dysregulation v0.27 SLC7A7 Zornitza Stark Gene: slc7a7 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.27 SLC7A7 Zornitza Stark Classified gene: SLC7A7 as Green List (high evidence)
Disorders of immune dysregulation v0.27 SLC7A7 Zornitza Stark Gene: slc7a7 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.26 SLC7A7 Zornitza Stark gene: SLC7A7 was added
gene: SLC7A7 was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC7A7 were set to Lysinuric protein intolerance, MIM# 222700; Hyper-inflammatory response of macrophages; Normal NK cell function; Lysinuric protein intolerance; Bleeding tendency; Alverolar proteinosis
Review for gene: SLC7A7 was set to GREEN
Added comment: Sources: Expert list
Mendeliome v0.1942 FAAP24 Zornitza Stark Marked gene: FAAP24 as ready
Mendeliome v0.1942 FAAP24 Zornitza Stark Gene: faap24 has been classified as Red List (Low Evidence).
Mendeliome v0.1942 FAAP24 Zornitza Stark gene: FAAP24 was added
gene: FAAP24 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: FAAP24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAAP24 were set to 27473539
Phenotypes for gene: FAAP24 were set to EBV infection-driven lymphoproliferative disease
Review for gene: FAAP24 was set to RED
Added comment: Single sib pair with homozygous missense variant, some functional data.
Sources: Expert list
Disorders of immune dysregulation v0.25 FAAP24 Zornitza Stark Marked gene: FAAP24 as ready
Disorders of immune dysregulation v0.25 FAAP24 Zornitza Stark Gene: faap24 has been classified as Red List (Low Evidence).
Disorders of immune dysregulation v0.25 FAAP24 Zornitza Stark gene: FAAP24 was added
gene: FAAP24 was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: FAAP24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAAP24 were set to 27473539
Phenotypes for gene: FAAP24 were set to EBV infection-driven lymphoproliferative disease
Review for gene: FAAP24 was set to RED
Added comment: Single sib pair with homozygous missense variant, some functional data.
Sources: Expert list
Disorders of immune dysregulation v0.24 Zornitza Stark Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease
Predominantly Antibody Deficiency v0.31 RAC2 Zornitza Stark Marked gene: RAC2 as ready
Predominantly Antibody Deficiency v0.31 RAC2 Zornitza Stark Gene: rac2 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.31 RAC2 Zornitza Stark Classified gene: RAC2 as Green List (high evidence)
Predominantly Antibody Deficiency v0.31 RAC2 Zornitza Stark Gene: rac2 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.30 RAC2 Zornitza Stark gene: RAC2 was added
gene: RAC2 was added to Predominantly Antibody Deficiency. Sources: Expert list
Mode of inheritance for gene: RAC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAC2 were set to 32198141; 31919089; 31382036; 31071452; 30723080; 30654050
Phenotypes for gene: RAC2 were set to SCID; recurrent bacterial and viral infections; lymphoproliferation; neutropaenia; reticular dysgenesis; deafness; selective IgA deficiency; Reduced Ab responses following vaccination
Review for gene: RAC2 was set to GREEN
Added comment: GoF variants reported in at least 5 unrelated individuals, functional data including animal model.
Sources: Expert list
Predominantly Antibody Deficiency v0.29 SEC61A1 Zornitza Stark Marked gene: SEC61A1 as ready
Predominantly Antibody Deficiency v0.29 SEC61A1 Zornitza Stark Gene: sec61a1 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.29 SEC61A1 Zornitza Stark Classified gene: SEC61A1 as Green List (high evidence)
Predominantly Antibody Deficiency v0.29 SEC61A1 Zornitza Stark Gene: sec61a1 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.28 SEC61A1 Zornitza Stark gene: SEC61A1 was added
gene: SEC61A1 was added to Predominantly Antibody Deficiency. Sources: Expert list
Mode of inheritance for gene: SEC61A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEC61A1 were set to 27392076; 28782633
Phenotypes for gene: SEC61A1 were set to Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056; Hypogammaglobulinaemia; Severe recurrent respiratory tract infections
Review for gene: SEC61A1 was set to GREEN
Added comment: Gene initially linked with renal phenotype in two families, inconsistent immunological findings (PMID 27392076). Further 11 individuals from two families reported in PMID: 28782633 with immunological phenotype.
Sources: Expert list
Mendeliome v0.1941 SH3KBP1 Zornitza Stark Marked gene: SH3KBP1 as ready
Mendeliome v0.1941 SH3KBP1 Zornitza Stark Gene: sh3kbp1 has been classified as Red List (Low Evidence).
Mendeliome v0.1941 SH3KBP1 Zornitza Stark Tag SV/CNV tag was added to gene: SH3KBP1.
Mendeliome v0.1941 SH3KBP1 Zornitza Stark gene: SH3KBP1 was added
gene: SH3KBP1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SH3KBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SH3KBP1 were set to 29636373; 21708930
Phenotypes for gene: SH3KBP1 were set to Immunodeficiency 61, MIM# 300310
Review for gene: SH3KBP1 was set to RED
Added comment: Single family reported, 247.5-kb intragenic deletion detected by array.
Sources: Expert list
Predominantly Antibody Deficiency v0.27 SH3KBP1 Zornitza Stark Marked gene: SH3KBP1 as ready
Predominantly Antibody Deficiency v0.27 SH3KBP1 Zornitza Stark Gene: sh3kbp1 has been classified as Red List (Low Evidence).
Predominantly Antibody Deficiency v0.27 SH3KBP1 Zornitza Stark Tag SV/CNV tag was added to gene: SH3KBP1.
Predominantly Antibody Deficiency v0.27 SH3KBP1 Zornitza Stark gene: SH3KBP1 was added
gene: SH3KBP1 was added to Predominantly Antibody Deficiency. Sources: Expert list
Mode of inheritance for gene: SH3KBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SH3KBP1 were set to 29636373; 21708930
Phenotypes for gene: SH3KBP1 were set to Immunodeficiency 61, MIM# 300310
Review for gene: SH3KBP1 was set to RED
Added comment: Single family reported, 247.5-kb intragenic deletion detected by array. Some functional data.
Sources: Expert list
Mendeliome v0.1940 ARHGEF1 Zornitza Stark Marked gene: ARHGEF1 as ready
Mendeliome v0.1940 ARHGEF1 Zornitza Stark Gene: arhgef1 has been classified as Red List (Low Evidence).
Mendeliome v0.1940 ARHGEF1 Zornitza Stark gene: ARHGEF1 was added
gene: ARHGEF1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ARHGEF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARHGEF1 were set to 30521495
Phenotypes for gene: ARHGEF1 were set to Immunodeficiency 62, MIM#618459
Review for gene: ARHGEF1 was set to RED
Added comment: Single family, functional data.
Sources: Expert list
Mendeliome v0.1939 ATP6AP1 Zornitza Stark Marked gene: ATP6AP1 as ready
Mendeliome v0.1939 ATP6AP1 Zornitza Stark Gene: atp6ap1 has been classified as Green List (High Evidence).
Mendeliome v0.1939 ATP6AP1 Zornitza Stark Phenotypes for gene: ATP6AP1 were changed from to Immunodeficiency 47, MIM#300972; Hepatopathy; Leukopaenia; Low copper; Intellectual disability in some
Mendeliome v0.1938 ATP6AP1 Zornitza Stark Publications for gene: ATP6AP1 were set to
Mendeliome v0.1937 ATP6AP1 Zornitza Stark Mode of inheritance for gene: ATP6AP1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Predominantly Antibody Deficiency v0.26 ATP6AP1 Zornitza Stark Phenotypes for gene: ATP6AP1 were changed from Immunodeficiency 47, MIM# 300972 to Immunodeficiency 47, MIM# 300972; Hepatopathy; Leukopenia; Low copper
Predominantly Antibody Deficiency v0.25 ATP6AP1 Zornitza Stark edited their review of gene: ATP6AP1: Changed phenotypes: Immunodeficiency 47, MIM# 300972, Hepatopathy, Leukopenia, Low copper
Predominantly Antibody Deficiency v0.25 ATP6AP1 Zornitza Stark Marked gene: ATP6AP1 as ready
Predominantly Antibody Deficiency v0.25 ATP6AP1 Zornitza Stark Gene: atp6ap1 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.25 ATP6AP1 Zornitza Stark Classified gene: ATP6AP1 as Green List (high evidence)
Predominantly Antibody Deficiency v0.25 ATP6AP1 Zornitza Stark Gene: atp6ap1 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.24 ATP6AP1 Zornitza Stark gene: ATP6AP1 was added
gene: ATP6AP1 was added to Predominantly Antibody Deficiency. Sources: Expert list
Mode of inheritance for gene: ATP6AP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATP6AP1 were set to 27231034
Phenotypes for gene: ATP6AP1 were set to Immunodeficiency 47, MIM# 300972
Review for gene: ATP6AP1 was set to GREEN
Added comment: 11 males from 6 unrelated families reported, four different variants.
Sources: Expert list
Mendeliome v0.1936 IRF2BP2 Zornitza Stark Marked gene: IRF2BP2 as ready
Mendeliome v0.1936 IRF2BP2 Zornitza Stark Gene: irf2bp2 has been classified as Red List (Low Evidence).
Mendeliome v0.1936 IRF2BP2 Zornitza Stark gene: IRF2BP2 was added
gene: IRF2BP2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: IRF2BP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IRF2BP2 were set to 27016798
Phenotypes for gene: IRF2BP2 were set to Immunodeficiency, common variable, 14, MIM# 617765
Review for gene: IRF2BP2 was set to RED
Added comment: Single family reported only.
Sources: Expert list
Predominantly Antibody Deficiency v0.23 IRF2BP2 Zornitza Stark Marked gene: IRF2BP2 as ready
Predominantly Antibody Deficiency v0.23 IRF2BP2 Zornitza Stark Gene: irf2bp2 has been classified as Red List (Low Evidence).
Predominantly Antibody Deficiency v0.23 IRF2BP2 Zornitza Stark gene: IRF2BP2 was added
gene: IRF2BP2 was added to Predominantly Antibody Deficiency. Sources: Expert list
Mode of inheritance for gene: IRF2BP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IRF2BP2 were set to 27016798
Phenotypes for gene: IRF2BP2 were set to Immunodeficiency, common variable, 14, MIM# 617765
Review for gene: IRF2BP2 was set to RED
Added comment: Single family reported only.
Sources: Expert list
Predominantly Antibody Deficiency v0.22 IKZF1 Zornitza Stark Marked gene: IKZF1 as ready
Predominantly Antibody Deficiency v0.22 IKZF1 Zornitza Stark Gene: ikzf1 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.22 IKZF1 Zornitza Stark Classified gene: IKZF1 as Green List (high evidence)
Predominantly Antibody Deficiency v0.22 IKZF1 Zornitza Stark Gene: ikzf1 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.21 IKZF1 Zornitza Stark gene: IKZF1 was added
gene: IKZF1 was added to Predominantly Antibody Deficiency. Sources: Expert list
Mode of inheritance for gene: IKZF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IKZF1 were set to 21548011; 26981933
Phenotypes for gene: IKZF1 were set to Immunodeficiency, common variable, 13, MIM# 616873; Low IgG, IgA, IgM, low or normal B cells; B cells and Ig levels reduce with age; Decreased pro-B cells; Recurrent sinopulmonary infections; Increased risk of ALL, autoimmunity
Review for gene: IKZF1 was set to GREEN
Added comment: At least five unrelated families reported.
Sources: Expert list
Predominantly Antibody Deficiency v0.20 Zornitza Stark Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease
Predominantly Antibody Deficiency v0.19 PIK3CD Zornitza Stark Marked gene: PIK3CD as ready
Predominantly Antibody Deficiency v0.19 PIK3CD Zornitza Stark Gene: pik3cd has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.19 PIK3CD Zornitza Stark Phenotypes for gene: PIK3CD were changed from to Immunodeficiency 14, MIM# 615513
Predominantly Antibody Deficiency v0.18 PIK3CD Zornitza Stark Publications for gene: PIK3CD were set to
Predominantly Antibody Deficiency v0.17 PIK3CD Zornitza Stark Mode of pathogenicity for gene: PIK3CD was changed from to Other
Predominantly Antibody Deficiency v0.16 PIK3CD Zornitza Stark Mode of inheritance for gene: PIK3CD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Predominantly Antibody Deficiency v0.15 PIK3CD Zornitza Stark reviewed gene: PIK3CD: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24136356, 30018075, 24165795; Phenotypes: Immunodeficiency 14, MIM# 615513; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2510 TOP2B Zornitza Stark Marked gene: TOP2B as ready
Intellectual disability syndromic and non-syndromic v0.2510 TOP2B Zornitza Stark Gene: top2b has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2510 TOP2B Zornitza Stark Classified gene: TOP2B as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2510 TOP2B Zornitza Stark Gene: top2b has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2509 TOP2B Zornitza Stark gene: TOP2B was added
gene: TOP2B was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: TOP2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TOP2B were set to 31953910; 28343847; 12773624
Phenotypes for gene: TOP2B were set to Intellectual disability
Review for gene: TOP2B was set to AMBER
Added comment: Two unrelated individuals reported with the same de novo variant, c.187C > T, p.(His63Tyr) and also mouse model data supports role in brain development. Gene has also been associated independently with deafness and with immunodeficiency and the variant-disease relationship remains to be fully elucidated.
Sources: Expert list
Mendeliome v0.1935 TOP2B Zornitza Stark Phenotypes for gene: TOP2B were changed from Autosomal dominant deafness to Autosomal dominant deafness; Antibody deficiency, recurrent infections, facial dysmorphism, limb anomalies; Intellectual disability
Mendeliome v0.1934 TOP2B Zornitza Stark Publications for gene: TOP2B were set to 31198993
Mendeliome v0.1933 TOP2B Zornitza Stark changed review comment from: Association with deafness: One multigenerational family where variant in this gene segregated; two additional variants identified in a cohort; supportive animal model data.
Association with immunological phenotypes: Four individuals from three unrelated families reported, all the variants affected the TOPRIM domain, functional data including mouse model.
Sources: Literature; to: Association with deafness: One multigenerational family where variant in this gene segregated; two additional variants identified in a cohort; supportive animal model data.
Association with immunological phenotypes: Four individuals from three unrelated families reported, all the variants affected the TOPRIM domain, functional data including mouse model.
Intellectual disability: two unrelated individuals reported with same de novo variant, c.187C > T, p.(His63Tyr) and also supportive mouse model data.
Sources: Literature
Mendeliome v0.1933 TOP2B Zornitza Stark edited their review of gene: TOP2B: Changed publications: 28343847, 31198993, 31409799, 12773624; Changed phenotypes: Autosomal dominant deafness, Antibody deficiency, recurrent infections, facial dysmorphism, limb anomalies, Intellectual disability
Mendeliome v0.1933 TOP2B Zornitza Stark edited their review of gene: TOP2B: Changed publications: 28343847
Mendeliome v0.1933 TOP2B Zornitza Stark Classified gene: TOP2B as Green List (high evidence)
Mendeliome v0.1933 TOP2B Zornitza Stark Gene: top2b has been classified as Green List (High Evidence).
Mendeliome v0.1932 TOP2B Zornitza Stark changed review comment from: One multigenerational family where variant in this gene segregated; two additional variants identified in a cohort; supportive animal model data.
Sources: Literature; to: Association with deafness: One multigenerational family where variant in this gene segregated; two additional variants identified in a cohort; supportive animal model data.
Association with immunological phenotypes: Four individuals from three unrelated families reported, all the variants affected the TOPRIM domain, functional data including mouse model.
Sources: Literature
Mendeliome v0.1932 TOP2B Zornitza Stark edited their review of gene: TOP2B: Changed rating: GREEN; Changed publications: 31198993, 31409799, 31953910; Changed phenotypes: Autosomal dominant deafness, Antibody deficiency, recurrent infections, facial dysmorphism, limb anomalies
Predominantly Antibody Deficiency v0.15 TOP2B Zornitza Stark Marked gene: TOP2B as ready
Predominantly Antibody Deficiency v0.15 TOP2B Zornitza Stark Gene: top2b has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.15 TOP2B Zornitza Stark Classified gene: TOP2B as Green List (high evidence)
Predominantly Antibody Deficiency v0.15 TOP2B Zornitza Stark Gene: top2b has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.14 TOP2B Zornitza Stark gene: TOP2B was added
gene: TOP2B was added to Predominantly Antibody Deficiency. Sources: Expert list
Mode of inheritance for gene: TOP2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TOP2B were set to 31409799
Phenotypes for gene: TOP2B were set to Antibody deficiency; Recurrent infections; Facial dysmorphism; Limb anomalies
Review for gene: TOP2B was set to GREEN
Added comment: Four individuals from three unrelated families reported, all the variants affected the TOPRIM domain, functional data including mouse model.
Sources: Expert list
Mendeliome v0.1932 SLC39A7 Zornitza Stark Marked gene: SLC39A7 as ready
Mendeliome v0.1932 SLC39A7 Zornitza Stark Gene: slc39a7 has been classified as Green List (High Evidence).
Mendeliome v0.1932 SLC39A7 Zornitza Stark Classified gene: SLC39A7 as Green List (high evidence)
Mendeliome v0.1932 SLC39A7 Zornitza Stark Gene: slc39a7 has been classified as Green List (High Evidence).
Mendeliome v0.1931 SLC39A7 Zornitza Stark gene: SLC39A7 was added
gene: SLC39A7 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SLC39A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A7 were set to 30718914
Phenotypes for gene: SLC39A7 were set to Antibody deficiency; early onset infections; blistering dermatosis; failure to thrive; thrombocytopaenia
Review for gene: SLC39A7 was set to GREEN
Added comment: Five unrelated families with hypomorphic variants and a mouse model recapitulating phenotype.
Sources: Expert list
Predominantly Antibody Deficiency v0.13 SLC39A7 Zornitza Stark Marked gene: SLC39A7 as ready
Predominantly Antibody Deficiency v0.13 SLC39A7 Zornitza Stark Gene: slc39a7 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.13 SLC39A7 Zornitza Stark Classified gene: SLC39A7 as Green List (high evidence)
Predominantly Antibody Deficiency v0.13 SLC39A7 Zornitza Stark Gene: slc39a7 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.12 SLC39A7 Zornitza Stark gene: SLC39A7 was added
gene: SLC39A7 was added to Predominantly Antibody Deficiency. Sources: Expert list
Mode of inheritance for gene: SLC39A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A7 were set to 30718914
Phenotypes for gene: SLC39A7 were set to Antibody deficiency; early onset infections; blistering dermatosis; failure to thrive; thrombocytopaenia
Review for gene: SLC39A7 was set to GREEN
Added comment: Five unrelated families with hypomorphic variants and a mouse model recapitulating phenotype.
Sources: Expert list
Combined Immunodeficiency v0.94 IKBKB Zornitza Stark Phenotypes for gene: IKBKB were changed from Immunodeficiency 15A, autosomal dominant, MIM# 618204; Immunodeficiency 15B, autosomal recessive, MIM# 615592 to Immunodeficiency 15A, autosomal dominant, MIM# 618204; Immunodeficiency 15B, autosomal recessive, MIM# 615592
Combined Immunodeficiency v0.94 IKBKB Zornitza Stark Marked gene: IKBKB as ready
Combined Immunodeficiency v0.94 IKBKB Zornitza Stark Gene: ikbkb has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.94 IKBKB Zornitza Stark Phenotypes for gene: IKBKB were changed from to Immunodeficiency 15A, autosomal dominant, MIM# 618204; Immunodeficiency 15B, autosomal recessive, MIM# 615592
Combined Immunodeficiency v0.93 IKBKB Zornitza Stark Publications for gene: IKBKB were set to
Combined Immunodeficiency v0.92 IKBKB Zornitza Stark Mode of pathogenicity for gene: IKBKB was changed from to Other
Combined Immunodeficiency v0.91 IKBKB Zornitza Stark Mode of inheritance for gene: IKBKB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Combined Immunodeficiency v0.90 IKBKB Zornitza Stark reviewed gene: IKBKB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30337470, 25216719, 24369075; Phenotypes: Immunodeficiency 15A, autosomal dominant, MIM# 618204, Immunodeficiency 15B, autosomal recessive, MIM# 615592; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Combined Immunodeficiency v0.90 CARD11 Zornitza Stark Marked gene: CARD11 as ready
Combined Immunodeficiency v0.90 CARD11 Zornitza Stark Gene: card11 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.90 CARD11 Zornitza Stark Phenotypes for gene: CARD11 were changed from to Immunodeficiency 11A, autosomal recessive, MIM# 615206; Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM# 617638
Combined Immunodeficiency v0.89 CARD11 Zornitza Stark Publications for gene: CARD11 were set to
Combined Immunodeficiency v0.88 CARD11 Zornitza Stark Mode of inheritance for gene: CARD11 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Combined Immunodeficiency v0.87 CARD11 Zornitza Stark reviewed gene: CARD11: Rating: GREEN; Mode of pathogenicity: None; Publications: 23561803, 12818158, 23374270, 28628108; Phenotypes: Immunodeficiency 11A, autosomal recessive, MIM# 615206, Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM# 617638; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Combined Immunodeficiency v0.87 STAT5B Zornitza Stark Phenotypes for gene: STAT5B were changed from to Growth hormone insensitivity with immunodeficiency, MIM# 245590
Combined Immunodeficiency v0.86 STAT5B Zornitza Stark Marked gene: STAT5B as ready
Combined Immunodeficiency v0.86 STAT5B Zornitza Stark Gene: stat5b has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.86 STAT5B Zornitza Stark Publications for gene: STAT5B were set to
Combined Immunodeficiency v0.85 STAT5B Zornitza Stark Mode of pathogenicity for gene: STAT5B was changed from to Other
Combined Immunodeficiency v0.84 STAT5B Zornitza Stark Mode of inheritance for gene: STAT5B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Combined Immunodeficiency v0.83 STAT5B Zornitza Stark reviewed gene: STAT5B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29844444; Phenotypes: Growth hormone insensitivity with immunodeficiency, MIM# 245590; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1930 NFE2L2 Zornitza Stark Marked gene: NFE2L2 as ready
Mendeliome v0.1930 NFE2L2 Zornitza Stark Gene: nfe2l2 has been classified as Green List (High Evidence).
Mendeliome v0.1930 NFE2L2 Zornitza Stark Classified gene: NFE2L2 as Green List (high evidence)
Mendeliome v0.1930 NFE2L2 Zornitza Stark Gene: nfe2l2 has been classified as Green List (High Evidence).
Mendeliome v0.1929 NFE2L2 Zornitza Stark gene: NFE2L2 was added
gene: NFE2L2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: NFE2L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NFE2L2 were set to 29018201
Phenotypes for gene: NFE2L2 were set to Immunodeficiency, developmental delay, and hypohomocysteinemia, MIM# 617744; Recurrent respiratory and skin infection; Growth retardation; Developmental delay, borderline ID; White matter cerebral lesions
Review for gene: NFE2L2 was set to GREEN
Added comment: Four unrelated individuals reported.
Sources: Expert list
Combined Immunodeficiency v0.83 NFE2L2 Zornitza Stark Classified gene: NFE2L2 as Green List (high evidence)
Combined Immunodeficiency v0.83 NFE2L2 Zornitza Stark Gene: nfe2l2 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.82 NFE2L2 Zornitza Stark gene: NFE2L2 was added
gene: NFE2L2 was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: NFE2L2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NFE2L2 were set to 29018201
Phenotypes for gene: NFE2L2 were set to Immunodeficiency, developmental delay, and hypohomocysteinemia, MIM# 617744; Recurrent respiratory and skin infection; Growth retardation; Developmental delay, borderline ID; White matter cerebral lesions
Review for gene: NFE2L2 was set to GREEN
Added comment: Four unrelated individuals reported.
Sources: Expert list
Combined Immunodeficiency v0.81 FAT4 Zornitza Stark Marked gene: FAT4 as ready
Combined Immunodeficiency v0.81 FAT4 Zornitza Stark Gene: fat4 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.81 FAT4 Zornitza Stark Classified gene: FAT4 as Green List (high evidence)
Combined Immunodeficiency v0.81 FAT4 Zornitza Stark Gene: fat4 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.80 FAT4 Zornitza Stark gene: FAT4 was added
gene: FAT4 was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: FAT4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAT4 were set to Hennekam lymphangiectasia-lymphedema syndrome 2, MIM# 616006; Low/variable T and B cells; Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features
Review for gene: FAT4 was set to GREEN
Added comment: Sources: Expert list
Combined Immunodeficiency v0.79 BCL11B Zornitza Stark Marked gene: BCL11B as ready
Combined Immunodeficiency v0.79 BCL11B Zornitza Stark Gene: bcl11b has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.79 BCL11B Zornitza Stark Classified gene: BCL11B as Green List (high evidence)
Combined Immunodeficiency v0.79 BCL11B Zornitza Stark Gene: bcl11b has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.78 BCL11B Zornitza Stark gene: BCL11B was added
gene: BCL11B was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: BCL11B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BCL11B were set to 29985992; 27959755
Phenotypes for gene: BCL11B were set to Immunodeficiency 49, MIM# 617237; Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, MIM# 618092
Review for gene: BCL11B was set to GREEN
Added comment: Over ten individuals reported, variable features in addition to T-cell abnormalities.
Sources: Expert list
Combined Immunodeficiency v0.77 SKIV2L Zornitza Stark Marked gene: SKIV2L as ready
Combined Immunodeficiency v0.77 SKIV2L Zornitza Stark Gene: skiv2l has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.77 SKIV2L Zornitza Stark Classified gene: SKIV2L as Green List (high evidence)
Combined Immunodeficiency v0.77 SKIV2L Zornitza Stark Gene: skiv2l has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.76 SKIV2L Zornitza Stark gene: SKIV2L was added
gene: SKIV2L was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: SKIV2L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SKIV2L were set to 22444670
Phenotypes for gene: SKIV2L were set to Trichohepatoenteric syndrome 2, MIM# 614602; Respiratory infections; IUGR; Facial dysmorphic features; Wooly hair; Early-onset intractable diarrhoea; Liver cirrhosis; Platelet abnormalities
Review for gene: SKIV2L was set to GREEN
Added comment: At least six unrelated individuals reported.
Sources: Expert list
Combined Immunodeficiency v0.75 TTC37 Zornitza Stark Marked gene: TTC37 as ready
Combined Immunodeficiency v0.75 TTC37 Zornitza Stark Gene: ttc37 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.75 TTC37 Zornitza Stark Classified gene: TTC37 as Green List (high evidence)
Combined Immunodeficiency v0.75 TTC37 Zornitza Stark Gene: ttc37 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.74 TTC37 Zornitza Stark gene: TTC37 was added
gene: TTC37 was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: TTC37 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC37 were set to 21120949; 20176027
Phenotypes for gene: TTC37 were set to Trichohepatoenteric syndrome 1, MIM# 222470; Respiratory infections; IUGR; Facial dysmorphic features; Wooly hair:Early-onset intractable diarrhoea; Liver cirrhosis; Platelet abnormalities
Review for gene: TTC37 was set to GREEN
Added comment: Over 20 families reported.
Sources: Expert list
Mendeliome v0.1928 ERBIN Zornitza Stark Marked gene: ERBIN as ready
Mendeliome v0.1928 ERBIN Zornitza Stark Gene: erbin has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1928 ERBIN Zornitza Stark Classified gene: ERBIN as Amber List (moderate evidence)
Mendeliome v0.1928 ERBIN Zornitza Stark Gene: erbin has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1927 ERBIN Zornitza Stark gene: ERBIN was added
gene: ERBIN was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ERBIN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ERBIN were set to 28126831
Phenotypes for gene: ERBIN were set to Recurrent respiratory infections; Susceptibility to S.aureus; Eczema; Hyperextensible joints; Scoliosis; Arterial dilatation in some
Review for gene: ERBIN was set to AMBER
Added comment: Single family and functional data.
Sources: Expert list
Combined Immunodeficiency v0.73 ERBIN Zornitza Stark Marked gene: ERBIN as ready
Combined Immunodeficiency v0.73 ERBIN Zornitza Stark Gene: erbin has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.73 ERBIN Zornitza Stark Classified gene: ERBIN as Amber List (moderate evidence)
Combined Immunodeficiency v0.73 ERBIN Zornitza Stark Gene: erbin has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.72 ERBIN Zornitza Stark gene: ERBIN was added
gene: ERBIN was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: ERBIN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ERBIN were set to 28126831
Phenotypes for gene: ERBIN were set to Recurrent respiratory infections; Susceptibility to S.aureus; Eczema; Hyperextensible joints; Scoliosis; Arterial dilatation in some
Review for gene: ERBIN was set to AMBER
Added comment: Single family and functional data.
Sources: Expert list
Mendeliome v0.1926 ZNF341 Zornitza Stark Marked gene: ZNF341 as ready
Mendeliome v0.1926 ZNF341 Zornitza Stark Gene: znf341 has been classified as Green List (High Evidence).
Mendeliome v0.1926 ZNF341 Zornitza Stark Classified gene: ZNF341 as Green List (high evidence)
Mendeliome v0.1926 ZNF341 Zornitza Stark Gene: znf341 has been classified as Green List (High Evidence).
Mendeliome v0.1925 ZNF341 Zornitza Stark gene: ZNF341 was added
gene: ZNF341 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ZNF341 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF341 were set to 29907691; 29907690
Phenotypes for gene: ZNF341 were set to Hyper-IgE recurrent infection syndrome 3, autosomal recessive, MIM# 618282; Mild facial dysmorphism; Early onset eczema; Recurrent bacterial skin infections, abscesses; Recurrent respiratory infections, lung abscesses and pneumothoraces; Hyperextensible joints, bone fractures, retention of primary teeth
Review for gene: ZNF341 was set to GREEN
Added comment: 19 individuals from 10 families reported, some sharing the same homozygous variants (at least 4 different LoF variants reported).
Sources: Expert list
Combined Immunodeficiency v0.71 ZNF341 Zornitza Stark Marked gene: ZNF341 as ready
Combined Immunodeficiency v0.71 ZNF341 Zornitza Stark Gene: znf341 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.71 ZNF341 Zornitza Stark Classified gene: ZNF341 as Green List (high evidence)
Combined Immunodeficiency v0.71 ZNF341 Zornitza Stark Gene: znf341 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.70 ZNF341 Zornitza Stark gene: ZNF341 was added
gene: ZNF341 was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: ZNF341 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF341 were set to 29907691; 29907690
Phenotypes for gene: ZNF341 were set to Hyper-IgE recurrent infection syndrome 3, autosomal recessive, MIM# 618282; Mild facial dysmorphism; Early onset eczema; Recurrent bacterial skin infections, abscesses; Recurrent respiratory infections, lung abscesses and pneumothoraces; Hyperextensible joints, bone fractures, retention of primary teeth
Review for gene: ZNF341 was set to GREEN
Added comment: 19 individuals from 10 families reported, some sharing the same homozygous variants (at least 4 different LoF variants reported).
Sources: Expert list
Mendeliome v0.1924 IL6ST Zornitza Stark Marked gene: IL6ST as ready
Mendeliome v0.1924 IL6ST Zornitza Stark Gene: il6st has been classified as Green List (High Evidence).
Mendeliome v0.1924 IL6ST Zornitza Stark Classified gene: IL6ST as Green List (high evidence)
Mendeliome v0.1924 IL6ST Zornitza Stark Gene: il6st has been classified as Green List (High Evidence).
Mendeliome v0.1923 IL6ST Zornitza Stark gene: IL6ST was added
gene: IL6ST was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: IL6ST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL6ST were set to 28747427; 30309848; 12370259; 16041381; 31914175
Phenotypes for gene: IL6ST were set to Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523; Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response.
Review for gene: IL6ST was set to GREEN
Added comment: Also known as gp130. Two families with bi-allelic missense variants and immunological phenotype described initially. More recently, five individuals from three families reported with a more complex Stuve-Wiedemann-like phenotype reported, including skeletal dysplasia and neonatal lung dysfunction with additional features such as congenital thrombocytopenia, eczematoid dermatitis, renal abnormalities, and defective acute-phase response. These three families had bi-allelic LoF variants (nonsense and canonical splice site). Several mouse models support gene-disease association.
Sources: Expert list
Combined Immunodeficiency v0.69 IL6ST Zornitza Stark Marked gene: IL6ST as ready
Combined Immunodeficiency v0.69 IL6ST Zornitza Stark Gene: il6st has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.69 IL6ST Zornitza Stark Classified gene: IL6ST as Green List (high evidence)
Combined Immunodeficiency v0.69 IL6ST Zornitza Stark Gene: il6st has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.68 IL6ST Zornitza Stark gene: IL6ST was added
gene: IL6ST was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: IL6ST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL6ST were set to 28747427; 30309848; 12370259; 16041381; 31914175
Phenotypes for gene: IL6ST were set to Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523; Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response.
Review for gene: IL6ST was set to GREEN
Added comment: Also known as gp130. Two families with bi-allelic missense variants and immunological phenotype described initially. More recently, five individuals from three families reported with a more complex Stuve-Wiedemann-like phenotype reported, including skeletal dysplasia and neonatal lung dysfunction with additional features such as congenital thrombocytopenia, eczematoid dermatitis, renal abnormalities, and defective acute-phase response. These three families had bi-allelic LoF variants (nonsense and canonical splice site). Several mouse models support gene-disease association.
Sources: Expert list
Mendeliome v0.1922 IL6R Zornitza Stark Marked gene: IL6R as ready
Mendeliome v0.1922 IL6R Zornitza Stark Gene: il6r has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1922 IL6R Zornitza Stark Phenotypes for gene: IL6R were changed from to Recurrent pyogenic infections, cold abscesses; High circulating IL-6 levels; High IgE
Mendeliome v0.1921 IL6R Zornitza Stark Publications for gene: IL6R were set to
Mendeliome v0.1920 IL6R Zornitza Stark Mode of inheritance for gene: IL6R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1919 IL6R Zornitza Stark Classified gene: IL6R as Amber List (moderate evidence)
Mendeliome v0.1919 IL6R Zornitza Stark Gene: il6r has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.67 IL6R Zornitza Stark Marked gene: IL6R as ready
Combined Immunodeficiency v0.67 IL6R Zornitza Stark Gene: il6r has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1918 IL6R Zornitza Stark reviewed gene: IL6R: Rating: AMBER; Mode of pathogenicity: None; Publications: 31235509; Phenotypes: Recurrent pyogenic infections, cold abscesses, High circulating IL-6 levels, High IgE; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.67 IL6R Zornitza Stark Classified gene: IL6R as Amber List (moderate evidence)
Combined Immunodeficiency v0.67 IL6R Zornitza Stark Gene: il6r has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.66 IL6R Zornitza Stark gene: IL6R was added
gene: IL6R was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: IL6R was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL6R were set to 31235509
Phenotypes for gene: IL6R were set to Recurrent pyogenic infections, cold abscesses; High circulating IL-6 levels; High IgE
Review for gene: IL6R was set to AMBER
Added comment: Two unrelated individuals reported, some functional data.
Sources: Expert list
Microcephaly v0.106 NSMCE2 Zornitza Stark Marked gene: NSMCE2 as ready
Microcephaly v0.106 NSMCE2 Zornitza Stark Gene: nsmce2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1918 NSMCE2 Zornitza Stark Marked gene: NSMCE2 as ready
Mendeliome v0.1918 NSMCE2 Zornitza Stark Gene: nsmce2 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.65 MOGS Zornitza Stark Marked gene: MOGS as ready
Combined Immunodeficiency v0.65 MOGS Zornitza Stark Gene: mogs has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.65 MOGS Zornitza Stark Classified gene: MOGS as Green List (high evidence)
Combined Immunodeficiency v0.65 MOGS Zornitza Stark Gene: mogs has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.64 MOGS Zornitza Stark gene: MOGS was added
gene: MOGS was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: MOGS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MOGS were set to 10788335; 24716661; 29235540
Phenotypes for gene: MOGS were set to Congenital disorder of glycosylation, type IIb, MIM# 606056; Severe hypogammaglobulinaemia; Bacterial and viral infections; Severe neurologic disease
Review for gene: MOGS was set to GREEN
Added comment: Three families reported.
Sources: Expert list
Mendeliome v0.1918 LIG1 Zornitza Stark Marked gene: LIG1 as ready
Mendeliome v0.1918 LIG1 Zornitza Stark Gene: lig1 has been classified as Green List (High Evidence).
Mendeliome v0.1918 LIG1 Zornitza Stark Classified gene: LIG1 as Green List (high evidence)
Mendeliome v0.1918 LIG1 Zornitza Stark Gene: lig1 has been classified as Green List (High Evidence).
Mendeliome v0.1917 LIG1 Zornitza Stark gene: LIG1 was added
gene: LIG1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: LIG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIG1 were set to 30395541
Phenotypes for gene: LIG1 were set to Combined immunodeficiency; Lymphopaenia; Hypogammaglobulinaemia; Recurrent bacterial and viral infections; Growth retardation; Sun sensitivity, radiation sensitivity; Macrocytosis
Review for gene: LIG1 was set to GREEN
Added comment: Five individuals from three families.
Sources: Expert list
Combined Immunodeficiency v0.63 LIG1 Zornitza Stark Classified gene: LIG1 as Green List (high evidence)
Combined Immunodeficiency v0.63 LIG1 Zornitza Stark Gene: lig1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.62 LIG1 Zornitza Stark gene: LIG1 was added
gene: LIG1 was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: LIG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIG1 were set to 30395541
Phenotypes for gene: LIG1 were set to Combined immunodeficiency; Lymphopaenia; Hypogammaglobulinaemia; Recurrent bacterial and viral infections; Growth retardation; Sun sensitivity, radiation sensitivity; Macrocytosis
Review for gene: LIG1 was set to GREEN
Added comment: Five individuals from three families.
Sources: Expert list
Mendeliome v0.1916 POLE2 Zornitza Stark gene: POLE2 was added
gene: POLE2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: POLE2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLE2 were set to 26365386
Phenotypes for gene: POLE2 were set to Combined immunodeficiency; Lymphopaenia; Lack of TRECS, absent proliferation in response to antigens; Hypoglobulinaemia; Recurrent infections, disseminated BCG infections; Autoimmunity; Facial dysmorphism
Review for gene: POLE2 was set to RED
Added comment: Single family reported with homozygous splice site variant.
Sources: Expert list
Combined Immunodeficiency v0.61 POLE2 Zornitza Stark Marked gene: POLE2 as ready
Combined Immunodeficiency v0.61 POLE2 Zornitza Stark Gene: pole2 has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.61 POLE2 Zornitza Stark changed review comment from: Single family reported.
Sources: Expert list; to: Single family reported with homozygous splice site variant.
Sources: Expert list
Combined Immunodeficiency v0.61 POLE2 Zornitza Stark gene: POLE2 was added
gene: POLE2 was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: POLE2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLE2 were set to 26365386
Phenotypes for gene: POLE2 were set to Combined immunodeficiency; Lymphopaenia; Lack of TRECS, absent proliferation in response to antigens; Hypoglobulinaemia; Recurrent infections, disseminated BCG infections; Autoimmunity; Facial dysmorphism
Review for gene: POLE2 was set to RED
Added comment: Single family reported.
Sources: Expert list
Mendeliome v0.1915 FCHO1 Zornitza Stark Marked gene: FCHO1 as ready
Mendeliome v0.1915 FCHO1 Zornitza Stark Gene: fcho1 has been classified as Green List (High Evidence).
Mendeliome v0.1915 FCHO1 Zornitza Stark Classified gene: FCHO1 as Green List (high evidence)
Mendeliome v0.1915 FCHO1 Zornitza Stark Gene: fcho1 has been classified as Green List (High Evidence).
Mendeliome v0.1914 FCHO1 Zornitza Stark gene: FCHO1 was added
gene: FCHO1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: FCHO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FCHO1 were set to 32098969; 30822429
Phenotypes for gene: FCHO1 were set to Combined immunodeficiency; T cells: low, poor proliferation; B cells: normal number; Recurrent infections (viral, mycobacteria, bacterial, fungal); lymphoproliferation; Failure to thrive; Increased activation-induced T-cell death; Defective clathrin-mediated endocytosis
Review for gene: FCHO1 was set to GREEN
Added comment: More than 10 affected individuals with bi-allelic variants in this gene reported. Functional data.
Sources: Expert list
Combined Immunodeficiency v0.59 FCHO1 Zornitza Stark Marked gene: FCHO1 as ready
Combined Immunodeficiency v0.59 FCHO1 Zornitza Stark Gene: fcho1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.59 FCHO1 Zornitza Stark Classified gene: FCHO1 as Green List (high evidence)
Combined Immunodeficiency v0.59 FCHO1 Zornitza Stark Gene: fcho1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.58 FCHO1 Zornitza Stark gene: FCHO1 was added
gene: FCHO1 was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: FCHO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FCHO1 were set to 32098969; 30822429
Phenotypes for gene: FCHO1 were set to Combined immunodeficiency; T cells: low, poor proliferation; B cells: normal number; Recurrent infections (viral, mycobacteria, bacterial, fungal); lymphoproliferation; Failure to thrive; Increased activation-induced T-cell death; Defective clathrin-mediated endocytosis
Review for gene: FCHO1 was set to GREEN
Added comment: More than 10 affected individuals with bi-allelic variants in this gene reported. Functional data.
Sources: Expert list
Mendeliome v0.1913 REL Zornitza Stark Marked gene: REL as ready
Mendeliome v0.1913 REL Zornitza Stark Gene: rel has been classified as Red List (Low Evidence).
Mendeliome v0.1913 REL Zornitza Stark gene: REL was added
gene: REL was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: REL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: REL were set to 31103457
Phenotypes for gene: REL were set to Combined immunodeficiency; T cells: normal, decreased memory CD4, poor proliferation; B cells: low, mostly naive, few switched memory B cells, impaired proliferation; Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms; Defective innate immunity
Review for gene: REL was set to RED
Added comment: Single individual from consanguineous family reported with homozygous canonical splice site variant, no functional data.
Sources: Expert list
Combined Immunodeficiency v0.57 REL Zornitza Stark Marked gene: REL as ready
Combined Immunodeficiency v0.57 REL Zornitza Stark Gene: rel has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.57 REL Zornitza Stark gene: REL was added
gene: REL was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: REL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: REL were set to 31103457
Phenotypes for gene: REL were set to Combined immunodeficiency; T cells: normal, decreased memory CD4, poor proliferation; B cells: low, mostly naive, few switched memory B cells, impaired proliferation; Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms; Defective innate immunity
Review for gene: REL was set to RED
Added comment: Single individual from consanguineous family reported with homozygous canonical splice site variant, no functional data.
Sources: Expert list
Mendeliome v0.1912 TFRC Zornitza Stark Marked gene: TFRC as ready
Mendeliome v0.1912 TFRC Zornitza Stark Gene: tfrc has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1912 TFRC Zornitza Stark Phenotypes for gene: TFRC were changed from to Immunodeficiency 46, MIM# 616740; T cells: normal number, poor proliferation; B cells: normal number, low memory B cells; recurrent infections, neutorpaenia; thrombocytopaenia
Mendeliome v0.1911 TFRC Zornitza Stark Publications for gene: TFRC were set to
Mendeliome v0.1910 TFRC Zornitza Stark Mode of inheritance for gene: TFRC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1909 TFRC Zornitza Stark Classified gene: TFRC as Amber List (moderate evidence)
Mendeliome v0.1909 TFRC Zornitza Stark Gene: tfrc has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1908 TFRC Zornitza Stark reviewed gene: TFRC: Rating: AMBER; Mode of pathogenicity: None; Publications: 26642240; Phenotypes: Immunodeficiency 46, MIM# 616740, T cells: normal number, poor proliferation, B cells: normal number, low memory B cells, recurrent infections, neutorpaenia, thrombocytopaenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.56 TFRC Zornitza Stark Marked gene: TFRC as ready
Combined Immunodeficiency v0.56 TFRC Zornitza Stark Gene: tfrc has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.56 TFRC Zornitza Stark Classified gene: TFRC as Amber List (moderate evidence)
Combined Immunodeficiency v0.56 TFRC Zornitza Stark Gene: tfrc has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.55 TFRC Zornitza Stark Classified gene: TFRC as Amber List (moderate evidence)
Combined Immunodeficiency v0.55 TFRC Zornitza Stark Gene: tfrc has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.54 TFRC Zornitza Stark gene: TFRC was added
gene: TFRC was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: TFRC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TFRC were set to 26642240
Phenotypes for gene: TFRC were set to Immunodeficiency 46, MIM# 616740; T cells: normal number, poor proliferation; B cells: normal number, low memory B cells; recurrent infections, neutorpaenia; thrombocytopaenia
Review for gene: TFRC was set to AMBER
Added comment: Single family and functional data.
Sources: Expert list
Mendeliome v0.1908 TET2 Zornitza Stark edited their review of gene: TET2: Changed publications: 30890702, 31827242
Mendeliome v0.1908 TET2 Zornitza Stark changed review comment from: No evidence for Mendelian gene-disease association. Somatic TET2 variants are commonly found in cancers. One Finnish family reported where germline variant present 7 individuals, of whom 3 had lymphoma.; to: No evidence for Mendelian gene-disease association. Somatic TET2 variants are commonly found in cancers. One Finnish family reported where germline variant present 7 individuals, of whom 3 had lymphoma. Another French family reported with three sibs: frameshift variant and myeloid malignancies. Contribution of germline variants to malignancy risk to be established.
Mendeliome v0.1908 TET2 Zornitza Stark changed review comment from: No evidence for Mendelian gene-disease association. Somatic TET2 variants are commonly found in cancers.; to: No evidence for Mendelian gene-disease association. Somatic TET2 variants are commonly found in cancers. One Finnish family reported where germline variant present 7 individuals, of whom 3 had lymphoma.
Mendeliome v0.1908 TET2 Zornitza Stark edited their review of gene: TET2: Changed publications: 30890702
Mendeliome v0.1908 TET2 Zornitza Stark changed review comment from: No evidence for Mendelian gene-disease association.; to: No evidence for Mendelian gene-disease association. Somatic TET2 variants are commonly found in cancers.
Mendeliome v0.1908 RELA Zornitza Stark Marked gene: RELA as ready
Mendeliome v0.1908 RELA Zornitza Stark Gene: rela has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1908 RELA Zornitza Stark Classified gene: RELA as Amber List (moderate evidence)
Mendeliome v0.1908 RELA Zornitza Stark Gene: rela has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1907 RELA Zornitza Stark gene: RELA was added
gene: RELA was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: RELA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RELA were set to 28600438; 29305315
Phenotypes for gene: RELA were set to Mucocutaneous ulceration, chronic, MIM# 618287; Impaired NFkB activation; reduced production of inflammatory cytokines; autoimmune cytopaenias
Review for gene: RELA was set to AMBER
Added comment: Two families reported, somewhat different phenotypes.
Sources: Expert list
Combined Immunodeficiency v0.53 RELA Zornitza Stark Marked gene: RELA as ready
Combined Immunodeficiency v0.53 RELA Zornitza Stark Gene: rela has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.53 RELA Zornitza Stark Classified gene: RELA as Amber List (moderate evidence)
Combined Immunodeficiency v0.53 RELA Zornitza Stark Gene: rela has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.52 RELA Zornitza Stark gene: RELA was added
gene: RELA was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: RELA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RELA were set to 28600438; 29305315
Phenotypes for gene: RELA were set to Mucocutaneous ulceration, chronic, MIM# 618287; Impaired NFkB activation; reduced production of inflammatory cytokines; autoimmune cytopaenias
Review for gene: RELA was set to AMBER
Added comment: Two families reported, somewhat different phenotypes.
Sources: Expert list
Mendeliome v0.1906 RELB Zornitza Stark Marked gene: RELB as ready
Mendeliome v0.1906 RELB Zornitza Stark Gene: relb has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1906 RELB Zornitza Stark Classified gene: RELB as Amber List (moderate evidence)
Mendeliome v0.1906 RELB Zornitza Stark Gene: relb has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1905 RELB Zornitza Stark gene: RELB was added
gene: RELB was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: RELB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RELB were set to 7834753; 26385063
Phenotypes for gene: RELB were set to Immunodeficiency 53, MIM# 617585; T cells: normal number, poor diversity, poor function; recurrent infections
Review for gene: RELB was set to AMBER
Added comment: Single family reported, functional data.
Sources: Expert list
Combined Immunodeficiency v0.51 RELB Zornitza Stark Marked gene: RELB as ready
Combined Immunodeficiency v0.51 RELB Zornitza Stark Gene: relb has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.51 RELB Zornitza Stark Classified gene: RELB as Amber List (moderate evidence)
Combined Immunodeficiency v0.51 RELB Zornitza Stark Gene: relb has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.50 RELB Zornitza Stark gene: RELB was added
gene: RELB was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: RELB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RELB were set to 7834753; 26385063
Phenotypes for gene: RELB were set to Immunodeficiency 53, MIM# 617585; T cells: normal number, poor diversity, poor function; recurrent infections
Review for gene: RELB was set to AMBER
Added comment: Single family reported, functional data.
Sources: Expert list
Combined Immunodeficiency v0.49 POLD2 Zornitza Stark changed review comment from: Single affected individual reported, compound heterozygous missense variants, some functional data.
Sources: Expert list; to: Single affected individual from consanguineous family reported, homozygous missense variant, some functional data.
Sources: Expert list
Combined Immunodeficiency v0.49 POLD2 Zornitza Stark gene: POLD2 was added
gene: POLD2 was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: POLD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLD2 were set to 31449058
Phenotypes for gene: POLD2 were set to Low CD4 T cells; Low B cells, normal maturation; recurrent respiratory tract infections, skin infections, warts and molluscum; short stature; intellectual disability
Review for gene: POLD2 was set to RED
Added comment: Single affected individual reported, compound heterozygous missense variants, some functional data.
Sources: Expert list
Combined Immunodeficiency v0.48 POLD1 Zornitza Stark changed review comment from: Three individuals from two generations of a consanguineous family reported, some functional data.
Sources: Expert list; to: Three individuals from two generations of a consanguineous family reported, some functional data. Another unrelated individual reported in PMID 31449058, more functional data.
Sources: Expert list
Combined Immunodeficiency v0.48 POLD1 Zornitza Stark edited their review of gene: POLD1: Changed publications: 31629014, 31449058
Mendeliome v0.1904 CD247 Zornitza Stark Marked gene: CD247 as ready
Mendeliome v0.1904 CD247 Zornitza Stark Gene: cd247 has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.48 POLD1 Zornitza Stark Marked gene: POLD1 as ready
Combined Immunodeficiency v0.48 POLD1 Zornitza Stark Added comment: Comment when marking as ready: Note mono allelic variants in POLD1 are associated with Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM# 615381
Combined Immunodeficiency v0.48 POLD1 Zornitza Stark Gene: pold1 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.48 POLD1 Zornitza Stark Classified gene: POLD1 as Amber List (moderate evidence)
Combined Immunodeficiency v0.48 POLD1 Zornitza Stark Gene: pold1 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.47 POLD1 Zornitza Stark gene: POLD1 was added
gene: POLD1 was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: POLD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLD1 were set to 31629014
Phenotypes for gene: POLD1 were set to Low CD4 T cells; Low B cells, normal maturation; recurrent respiratory tract infections, skin infections, warts and molluscum; short stature; intellectual disability
Review for gene: POLD1 was set to AMBER
Added comment: Three individuals from two generations of a consanguineous family reported, some functional data.
Sources: Expert list
Combined Immunodeficiency v0.46 ZAP70 Zornitza Stark Marked gene: ZAP70 as ready
Combined Immunodeficiency v0.46 ZAP70 Zornitza Stark Gene: zap70 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.46 ZAP70 Zornitza Stark Phenotypes for gene: ZAP70 were changed from to Immunodeficiency 48, MIM# 269840; Autoimmune disease, multisystem, infantile-onset, 2, MIM# 617006
Combined Immunodeficiency v0.45 ZAP70 Zornitza Stark Mode of pathogenicity for gene: ZAP70 was changed from to Other
Combined Immunodeficiency v0.44 ZAP70 Zornitza Stark Mode of inheritance for gene: ZAP70 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.43 ZAP70 Zornitza Stark reviewed gene: ZAP70: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Immunodeficiency 48, MIM# 269840, Autoimmune disease, multisystem, infantile-onset, 2, MIM# 617006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.43 ICOSLG Zornitza Stark Marked gene: ICOSLG as ready
Combined Immunodeficiency v0.43 ICOSLG Zornitza Stark Gene: icoslg has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.43 ICOSLG Zornitza Stark Classified gene: ICOSLG as Amber List (moderate evidence)
Combined Immunodeficiency v0.43 ICOSLG Zornitza Stark Gene: icoslg has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1904 CD247 Zornitza Stark Phenotypes for gene: CD247 were changed from to Immunodeficiency 25, MIM# 610163; Absent T cells; Normal B cells; Normal NK cells
Combined Immunodeficiency v0.42 ICOSLG Zornitza Stark gene: ICOSLG was added
gene: ICOSLG was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: ICOSLG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ICOSLG were set to 31532372; 30498080
Phenotypes for gene: ICOSLG were set to Combined immunodeficiency; recurrent bacterial and viral infections; neutropaenia
Review for gene: ICOSLG was set to AMBER
Added comment: One, possibly two, reports (one not in English), some functional data.
Sources: Expert list
Mendeliome v0.1903 CD247 Zornitza Stark Publications for gene: CD247 were set to
Mendeliome v0.1902 CD247 Zornitza Stark Classified gene: CD247 as Red List (low evidence)
Mendeliome v0.1902 CD247 Zornitza Stark Gene: cd247 has been classified as Red List (Low Evidence).
Mendeliome v0.1902 CD247 Zornitza Stark Mode of inheritance for gene: CD247 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Severe Combined Immunodeficiency v0.13 CD247 Zornitza Stark Marked gene: CD247 as ready
Severe Combined Immunodeficiency v0.13 CD247 Zornitza Stark Gene: cd247 has been classified as Red List (Low Evidence).
Severe Combined Immunodeficiency v0.13 CD247 Zornitza Stark Phenotypes for gene: CD247 were changed from to Immunodeficiency 25, MIM# 610163; Absent T cells; Normal B cells; Normal NK cells
Mendeliome v0.1901 CD247 Zornitza Stark reviewed gene: CD247: Rating: RED; Mode of pathogenicity: None; Publications: 16672702; Phenotypes: Immunodeficiency 25, MIM# 610163, Absent T cells, Normal B cells, Normal NK cells; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe Combined Immunodeficiency v0.12 CD247 Zornitza Stark Publications for gene: CD247 were set to
Severe Combined Immunodeficiency v0.11 CD247 Zornitza Stark Mode of inheritance for gene: CD247 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Severe Combined Immunodeficiency v0.10 CD247 Zornitza Stark Classified gene: CD247 as Red List (low evidence)
Severe Combined Immunodeficiency v0.10 CD247 Zornitza Stark Gene: cd247 has been classified as Red List (Low Evidence).
Severe Combined Immunodeficiency v0.9 CD247 Zornitza Stark reviewed gene: CD247: Rating: RED; Mode of pathogenicity: None; Publications: 16672702; Phenotypes: Immunodeficiency 25, MIM# 610163, Absent T cells, Normal B cells, Normal NK cells; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.106 NSMCE2 Tiong Tan Classified gene: NSMCE2 as Amber List (moderate evidence)
Microcephaly v0.106 NSMCE2 Tiong Tan Gene: nsmce2 has been classified as Amber List (Moderate Evidence).
Microcephaly v0.105 NSMCE2 Tiong Tan gene: NSMCE2 was added
gene: NSMCE2 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: NSMCE2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NSMCE2 were set to 25105364
Phenotypes for gene: NSMCE2 were set to SECKEL SYNDROME 10
Penetrance for gene: NSMCE2 were set to Complete
Review for gene: NSMCE2 was set to AMBER
Added comment: Biallelic hypomorphic variants in two unrelated women with microcephalic primordial dwarfism, insulin-resistant diabetes, fatty liver, and hypertriglyceridemia developing in childhood; and primary gonadal failure. Good quality functional evidence. No additional confirmatory cases since 2014 publication
Sources: Literature
Mendeliome v0.1901 NSMCE2 Tiong Tan Classified gene: NSMCE2 as Amber List (moderate evidence)
Mendeliome v0.1901 NSMCE2 Tiong Tan Added comment: Comment on list classification: Two unrelated women with good functional evidence; but no additional cases since 2014
Mendeliome v0.1901 NSMCE2 Tiong Tan Gene: nsmce2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1900 NSMCE2 Tiong Tan gene: NSMCE2 was added
gene: NSMCE2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NSMCE2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NSMCE2 were set to 25105364
Phenotypes for gene: NSMCE2 were set to SECKEL SYNDROME 10
Penetrance for gene: NSMCE2 were set to Complete
Review for gene: NSMCE2 was set to AMBER
Added comment: Biallelic hypomorphic variants in two unrelated women with microcephalic primordial dwarfism, insulin-resistant diabetes, fatty liver, and hypertriglyceridemia developing in childhood; and primary gonadal failure. Good quality functional evidence. No additional confirmatory cases since 2014 publication
Sources: Literature
Hereditary Neuropathy v0.51 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Hereditary Neuropathy v0.49 FLVCR1 Zornitza Stark Marked gene: FLVCR1 as ready
Hereditary Neuropathy v0.49 FLVCR1 Zornitza Stark Gene: flvcr1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.49 FLVCR1 Zornitza Stark Classified gene: FLVCR1 as Green List (high evidence)
Hereditary Neuropathy v0.49 FLVCR1 Zornitza Stark Gene: flvcr1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.48 FLVCR1 Zornitza Stark gene: FLVCR1 was added
gene: FLVCR1 was added to Hereditary Neuropathy - complex. Sources: Expert list
Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLVCR1 were set to 21267618; 21070897
Phenotypes for gene: FLVCR1 were set to Ataxia, posterior column, with retinitis pigmentosa, MIM# 609033
Review for gene: FLVCR1 was set to GREEN
gene: FLVCR1 was marked as current diagnostic
Added comment: Sources: Expert list
Bone Marrow Failure v0.46 MECOM Zornitza Stark Publications for gene: MECOM were set to 26581901
Mendeliome v0.1899 PLEKHA5 Zornitza Stark Classified gene: PLEKHA5 as Amber List (moderate evidence)
Mendeliome v0.1899 PLEKHA5 Zornitza Stark Gene: plekha5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1898 PLEKHA5 Zornitza Stark reviewed gene: PLEKHA5: Rating: AMBER; Mode of pathogenicity: None; Publications: 29805042; Phenotypes: cleft lip, cleft palate; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy v0.47 RFC1 Zornitza Stark Marked gene: RFC1 as ready
Hereditary Neuropathy v0.47 RFC1 Zornitza Stark Gene: rfc1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.47 RFC1 Zornitza Stark Tag STR tag was added to gene: RFC1.
Hereditary Neuropathy v0.47 RFC1 Zornitza Stark Classified gene: RFC1 as Green List (high evidence)
Hereditary Neuropathy v0.47 RFC1 Zornitza Stark Gene: rfc1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.46 RFC1 Zornitza Stark gene: RFC1 was added
gene: RFC1 was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: RFC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RFC1 were set to 30926972
Phenotypes for gene: RFC1 were set to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome OMIM 614575
Review for gene: RFC1 was set to GREEN
Added comment: 23 affected individuals from 11 families reported with biallelic AAGGG repeat expansion in intron 2. Expansion carrier frequency of 0.7% in Europeans.
Sources: Literature
Pain syndromes v0.4 TRPA1 Zornitza Stark reviewed gene: TRPA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 20547126, 16564016, 21468319, 28314413, 24778270, 24564660, 20718100; Phenotypes: Episodic pain syndrome, familial, 1, MIM# 615040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1898 TRPA1 Zornitza Stark Marked gene: TRPA1 as ready
Mendeliome v0.1898 TRPA1 Zornitza Stark Gene: trpa1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1898 TRPA1 Zornitza Stark Classified gene: TRPA1 as Amber List (moderate evidence)
Mendeliome v0.1898 TRPA1 Zornitza Stark Gene: trpa1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1897 TRPA1 Zornitza Stark gene: TRPA1 was added
gene: TRPA1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: TRPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPA1 were set to 20547126; 16564016; 21468319; 28314413; 24778270; 24564660; 20718100
Phenotypes for gene: TRPA1 were set to Episodic pain syndrome, familial, 1, MIM# 615040
Review for gene: TRPA1 was set to AMBER
Added comment: Single family and a lot of functional data.
Sources: Expert list
Osteogenesis Imperfecta and Osteoporosis v0.7 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital
Osteogenesis Imperfecta and Osteoporosis v0.6 NBAS Bryony Thompson Classified gene: NBAS as Green List (high evidence)
Osteogenesis Imperfecta and Osteoporosis v0.6 NBAS Bryony Thompson Gene: nbas has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.5 NBAS Bryony Thompson gene: NBAS was added
gene: NBAS was added to Osteogenesis Imperfecta. Sources: NHS GMS
Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NBAS were set to 27789416; 29955634
Phenotypes for gene: NBAS were set to short stature; bone fragility; developmental delay; immunodeficiency; autism
Review for gene: NBAS was set to GREEN
Added comment: Three compound heterozygous cases with an OI multi-system phenotype.
Sources: NHS GMS
Hereditary Neuropathy v0.45 SLC25A46 Zornitza Stark Marked gene: SLC25A46 as ready
Hereditary Neuropathy v0.45 SLC25A46 Zornitza Stark Gene: slc25a46 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.45 SLC25A46 Zornitza Stark Classified gene: SLC25A46 as Green List (high evidence)
Hereditary Neuropathy v0.45 SLC25A46 Zornitza Stark Gene: slc25a46 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.44 SLC25A46 Zornitza Stark gene: SLC25A46 was added
gene: SLC25A46 was added to Hereditary Neuropathy - complex. Sources: Expert list
Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A46 were set to 26168012; 27543974
Phenotypes for gene: SLC25A46 were set to Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505
Review for gene: SLC25A46 was set to GREEN
Added comment: Multiple families reported. Clinical presentation is highly variable. Complex progressive neurologic disorder characterised mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they may show abnormal movements, such as ataxia, dysmetria, and myoclonus. The most severely affected patients are hypotonic at birth and die in infancy.
Sources: Expert list
Hereditary Neuropathy v0.43 PPOX Zornitza Stark Marked gene: PPOX as ready
Hereditary Neuropathy v0.43 PPOX Zornitza Stark Gene: ppox has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.43 PPOX Zornitza Stark Classified gene: PPOX as Green List (high evidence)
Hereditary Neuropathy v0.43 PPOX Zornitza Stark Gene: ppox has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.42 PPOX Zornitza Stark gene: PPOX was added
gene: PPOX was added to Hereditary Neuropathy - complex. Sources: NHS GMS
Mode of inheritance for gene: PPOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PPOX were set to Porphyria variegata, MIM# 176200
Review for gene: PPOX was set to GREEN
Added comment: Neuropathy is part of the phenotype.
Sources: NHS GMS
Mendeliome v0.1896 PLEKHA5 Tiong Tan Marked gene: PLEKHA5 as ready
Mendeliome v0.1896 PLEKHA5 Tiong Tan Gene: plekha5 has been classified as Red List (Low Evidence).
Mendeliome v0.1896 PLEKHA5 Tiong Tan gene: PLEKHA5 was added
gene: PLEKHA5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PLEKHA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLEKHA5 were set to 29805042
Phenotypes for gene: PLEKHA5 were set to cleft lip; cleft palate
Penetrance for gene: PLEKHA5 were set to Complete
Review for gene: PLEKHA5 was set to GREEN
Added comment: Sources: Literature
Bone Marrow Failure v0.45 MECOM Kristin Rigbye reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26581901, 29519864; Phenotypes: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.45 TERC Zornitza Stark Marked gene: TERC as ready
Bone Marrow Failure v0.45 TERC Zornitza Stark Gene: terc has been classified as Green List (High Evidence).
Bone Marrow Failure v0.45 TERC Zornitza Stark Phenotypes for gene: TERC were changed from to Dyskeratosis congenita, autosomal dominant 1, MIM# 127550
Bone Marrow Failure v0.44 TERC Zornitza Stark Mode of inheritance for gene: TERC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.43 TERC Zornitza Stark reviewed gene: TERC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskeratosis congenita, autosomal dominant 1, MIM# 127550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1895 CNKSR1 Zornitza Stark Marked gene: CNKSR1 as ready
Mendeliome v0.1895 CNKSR1 Zornitza Stark Gene: cnksr1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1895 CNKSR1 Zornitza Stark Classified gene: CNKSR1 as Amber List (moderate evidence)
Mendeliome v0.1895 CNKSR1 Zornitza Stark Gene: cnksr1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1894 CNKSR1 Zornitza Stark gene: CNKSR1 was added
gene: CNKSR1 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: CNKSR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNKSR1 were set to 30450701; 30237576; 21937992
Phenotypes for gene: CNKSR1 were set to Intellectual disability
Review for gene: CNKSR1 was set to AMBER
Added comment: Three families reported, two as part of large cohorts reporting multiple novel genes. Note the family reported in PMID 30450701 appears to be the same family as reported in PMID 21937992. Some functional data in PMID 30450701, including Drosophila model.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.2508 CNKSR1 Zornitza Stark Marked gene: CNKSR1 as ready
Intellectual disability syndromic and non-syndromic v0.2508 CNKSR1 Zornitza Stark Gene: cnksr1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2508 CNKSR1 Zornitza Stark Classified gene: CNKSR1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2508 CNKSR1 Zornitza Stark Gene: cnksr1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2507 CNKSR1 Zornitza Stark gene: CNKSR1 was added
gene: CNKSR1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review
Mode of inheritance for gene: CNKSR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNKSR1 were set to 30450701; 30237576; 21937992
Phenotypes for gene: CNKSR1 were set to Intellectual disability
Review for gene: CNKSR1 was set to AMBER
Added comment: Three families reported, two as part of large cohorts reporting multiple novel genes. Note the family reported in PMID 30450701 appears to be the same family as reported in PMID 21937992. Some functional data in PMID 30450701, including Drosophila model.
Sources: Expert Review
Microcephaly v0.104 FRMD4A Zornitza Stark Marked gene: FRMD4A as ready
Microcephaly v0.104 FRMD4A Zornitza Stark Gene: frmd4a has been classified as Amber List (Moderate Evidence).
Microcephaly v0.104 FRMD4A Zornitza Stark Classified gene: FRMD4A as Amber List (moderate evidence)
Microcephaly v0.104 FRMD4A Zornitza Stark Gene: frmd4a has been classified as Amber List (Moderate Evidence).
Microcephaly v0.103 FRMD4A Zornitza Stark gene: FRMD4A was added
gene: FRMD4A was added to Microcephaly. Sources: Expert Review
Mode of inheritance for gene: FRMD4A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRMD4A were set to 25388005; 30214071
Phenotypes for gene: FRMD4A were set to Intellectual disability; microcephaly; Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, MIM# 616819
Review for gene: FRMD4A was set to AMBER
Added comment: Single Bedouin Israeli family reported with homozygous variant initially. Good segregation data. No functional data. Another family reported as part of a large consanguineous microcephaly cohort, different variant.
Sources: Expert Review
Mendeliome v0.1893 FRMD4A Zornitza Stark Marked gene: FRMD4A as ready
Mendeliome v0.1893 FRMD4A Zornitza Stark Gene: frmd4a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1893 FRMD4A Zornitza Stark Classified gene: FRMD4A as Amber List (moderate evidence)
Mendeliome v0.1893 FRMD4A Zornitza Stark Gene: frmd4a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1892 FRMD4A Zornitza Stark gene: FRMD4A was added
gene: FRMD4A was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: FRMD4A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRMD4A were set to 25388005; 30214071
Phenotypes for gene: FRMD4A were set to Intellectual disability; microcephaly; Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, MIM# 616819
Review for gene: FRMD4A was set to AMBER
Added comment: Single Bedouin Israeli family reported with homozygous variant initially. Good segregation data. No functional data. Another family reported as part of a large consanguineous microcephaly cohort, different variant.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.2506 FRMD4A Zornitza Stark Marked gene: FRMD4A as ready
Intellectual disability syndromic and non-syndromic v0.2506 FRMD4A Zornitza Stark Gene: frmd4a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2506 FRMD4A Zornitza Stark Phenotypes for gene: FRMD4A were changed from Intellectual disability; microcephaly to Intellectual disability; microcephaly; Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, MIM# 616819
Intellectual disability syndromic and non-syndromic v0.2505 FRMD4A Zornitza Stark Classified gene: FRMD4A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2505 FRMD4A Zornitza Stark Gene: frmd4a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2504 FRMD4A Zornitza Stark edited their review of gene: FRMD4A: Changed phenotypes: Intellectual disability, microcephaly, Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, MIM# 616819
Intellectual disability syndromic and non-syndromic v0.2504 FRMD4A Zornitza Stark edited their review of gene: FRMD4A: Changed phenotypes: Intellectual disability, microcephaly, Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 616819
Intellectual disability syndromic and non-syndromic v0.2504 FRMD4A Zornitza Stark gene: FRMD4A was added
gene: FRMD4A was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review
Mode of inheritance for gene: FRMD4A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRMD4A were set to 25388005; 30214071
Phenotypes for gene: FRMD4A were set to Intellectual disability; microcephaly
Review for gene: FRMD4A was set to AMBER
Added comment: Single Bedouin Israeli family reported with homozygous variant initially. Good segregation data. No functional data. Another family reported as part of a large consanguineous microcephaly cohort, different variant.
Sources: Expert Review
Pain syndromes v0.4 Zornitza Stark Panel status changed from deleted to public
Pain syndromes v0.3 NMNAT2 Zornitza Stark Source Expert Review Red was added to NMNAT2.
Source Research was added to NMNAT2.
Added phenotypes polyneuropathy; erythromelalgia for gene: NMNAT2
Rating Changed from Green List (high evidence) to Red List (low evidence)
Pain syndromes v0.3 FAAHP1 Zornitza Stark Source Literature was added to FAAHP1.
Added phenotypes Pain insensitivity for gene: FAAHP1
Pain syndromes v0.3 CLTCL1 Zornitza Stark Source Review was added to CLTCL1.
Source Literaure was added to CLTCL1.
Added phenotypes Congenital insensitivity to pain for gene: CLTCL1
Pain syndromes v0.3 CCT5 Zornitza Stark Source Expert Review Red was added to CCT5.
Added phenotypes Neuropathy, hereditary sensory, with spastic paraplegia, 256840; HSAN with spastic paraplegia for gene: CCT5
Rating Changed from Green List (high evidence) to Red List (low evidence)
Pain syndromes v0.3 NAGLU Zornitza Stark Source Expert Review Amber was added to NAGLU.
Added phenotypes Late-onset painful sensory neuropathy, AD; Mucopolysaccharidosis type IIIB (Sanfilippo B), AR, 252920 for gene: NAGLU
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Pain syndromes v0.3 MPV17 Zornitza Stark Source Expert Review Amber was added to MPV17.
Added phenotypes Navajo neurohepatopathy; Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810; Pain insensitivity for gene: MPV17
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Pain syndromes v0.3 WNK1 Zornitza Stark Added phenotypes Neuropathy, hereditary sensory and autonomic, type II, 201300; HSAN 2; Hereditary sensory and autonomic neuropathy type IIA for gene: WNK1
Pain syndromes v0.3 TTR Zornitza Stark Added phenotypes Hereditary amyloidosis; Amyloidosis, hereditary, transthyretin-related, 105210; Familial amyloid polyneuropathy; Carpal tunnel syndrome, familial, 115430 for gene: TTR
Pain syndromes v0.3 TRPA1 Zornitza Stark Added phenotypes Familial episodic pain syndrome type I; Episodic pain syndrome, familial, 615040 for gene: TRPA1
Pain syndromes v0.3 SPTLC2 Zornitza Stark Added phenotypes Hereditary sensory and autonomic neuropathy type IC; HSAN 1; Neuropathy, hereditary sensory and autonomic, type IC, 613640 for gene: SPTLC2
Pain syndromes v0.3 SPTLC1 Zornitza Stark Added phenotypes Neuropathy, hereditary sensory and autonomic, type IA, 162400; HSAN 1; Hereditary sensory neuropathy type IA for gene: SPTLC1
Pain syndromes v0.3 SEPT9 Zornitza Stark Added phenotypes Amyotrophy, hereditary neuralgic, 162100; Hereditary neuralgic amyotrophy for gene: SEPT9
Pain syndromes v0.3 SCN9A Zornitza Stark Added phenotypes HSAN2D, autosomal recessive, AR, 243000; Erythermalgia, primary, AD, 133020; Insensitivity to pain, congenital, AR, 243000; Small fiber neuropathy, AD,133020; Paroxysmal extreme pain disorder, AD, 167400 for gene: SCN9A
Pain syndromes v0.3 SCN11A Zornitza Stark Added phenotypes Neuropathy, hereditary sensory and autonomic, type VII, 615548; Episodic pain syndrome, familial, 3, 615552; Hereditary sensory and autonomic neuropathy type VII; Familial episodic pain syndrome for gene: SCN11A
Pain syndromes v0.3 SCN10A Zornitza Stark Added phenotypes Small fibre neuropathy; Painful small fibre neuropathy; SFN; Episodic pain syndrome, familial, 2, 615551; Familial episodic pain syndrome-2 for gene: SCN10A
Pain syndromes v0.3 RETREG1 Zornitza Stark Added phenotypes Hereditary sensory and autonomic neuropathy; Neuropathy, hereditary sensory and autonomic, type IIB, 613115; HSAN 2B for gene: RETREG1
Pain syndromes v0.3 RAB7A Zornitza Stark Added phenotypes HSAN1/2B; Hereditary motor and sensory neuropathy IIB; Charcot-Marie-Tooth disease, type 2B, 600882 for gene: RAB7A
Pain syndromes v0.3 PRNP Zornitza Stark Added phenotypes Cerebral amyloid angiopathy, PRNP-related, 137440 for gene: PRNP
Pain syndromes v0.3 PRDM12 Zornitza Stark Added phenotypes insensitivity to pain; Neuropathy, hereditary sensory and autonomic, type VIII, 616488; HSAN VIII; HSAN 8; Hereditary sensory and autonomic neuropathy type VIII for gene: PRDM12
Pain syndromes v0.3 NTRK1 Zornitza Stark Added phenotypes HSAN 4; Insensitivity to pain, congenital, with anhidrosis, 256800; Hereditary sensory neuropathy type IV for gene: NTRK1
Pain syndromes v0.3 NGF Zornitza Stark Added phenotypes Neuropathy, hereditary sensory and autonomic, type V, 608654; HSAN 5; Congenital sensory neuropathy with selective loss of small myelinated fibers; Hereditary sensory neuropathy type V for gene: NGF
Pain syndromes v0.3 KIF1A Zornitza Stark Added phenotypes Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory, type IIC, 614213 for gene: KIF1A
Pain syndromes v0.3 GLA Zornitza Stark Added phenotypes Fabry disease, 301500 for gene: GLA
Pain syndromes v0.3 ELP1 Zornitza Stark Added phenotypes Familial dysautonomia; NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; Dysautonomia, familial, 223900 for gene: ELP1
Pain syndromes v0.3 ATL3 Zornitza Stark Added phenotypes Neuropathy, hereditary sensory, type IF, 615632; HSN1F for gene: ATL3
Pain syndromes v0.3 ATL1 Zornitza Stark Added phenotypes HSN1D; Neuropathy, hereditary sensory, type ID, 613708; Hereditary spastic paraplegia, 182600; Hereditary sensory neuropathy for gene: ATL1
Pain syndromes v0.2 Zornitza Stark Panel status changed from public to deleted
Pain syndromes v0.1 Zornitza Stark Panel status changed from internal to public
Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Pain syndromes v0.0 NMNAT2 Zornitza Stark gene: NMNAT2 was added
gene: NMNAT2 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: NMNAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NMNAT2 were set to 31132363
Phenotypes for gene: NMNAT2 were set to polyneuropathy; erythromelalgia
Pain syndromes v0.0 FAAHP1 Zornitza Stark gene: FAAHP1 was added
gene: FAAHP1 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: FAAHP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAAHP1 were set to 30929760
Phenotypes for gene: FAAHP1 were set to Pain insensitivity
Pain syndromes v0.0 CLTCL1 Zornitza Stark gene: CLTCL1 was added
gene: CLTCL1 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: CLTCL1 was set to Unknown
Publications for gene: CLTCL1 were set to 26068709
Phenotypes for gene: CLTCL1 were set to Congenital insensitivity to pain
Pain syndromes v0.0 CCT5 Zornitza Stark gene: CCT5 was added
gene: CCT5 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: CCT5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCT5 were set to 12874111; 16399879; 25124038; 28623285
Phenotypes for gene: CCT5 were set to Neuropathy, hereditary sensory, with spastic paraplegia, 256840; HSAN with spastic paraplegia
Pain syndromes v0.0 NAGLU Zornitza Stark gene: NAGLU was added
gene: NAGLU was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: NAGLU was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NAGLU were set to 25818867; 12202988
Phenotypes for gene: NAGLU were set to Late-onset painful sensory neuropathy, AD; Mucopolysaccharidosis type IIIB (Sanfilippo B), AR, 252920
Pain syndromes v0.0 MPV17 Zornitza Stark gene: MPV17 was added
gene: MPV17 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPV17 were set to 16582910; 16909392; 23714749; 22508010; 185990; 11431741
Phenotypes for gene: MPV17 were set to Navajo neurohepatopathy; Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810; Pain insensitivity
Pain syndromes v0.0 WNK1 Zornitza Stark gene: WNK1 was added
gene: WNK1 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: WNK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNK1 were set to 15911806; 16636245; 16946995; 21625937; 15455397; 18521183; 15060842
Phenotypes for gene: WNK1 were set to Neuropathy, hereditary sensory and autonomic, type II, 201300; HSAN 2; Hereditary sensory and autonomic neuropathy type IIA
Pain syndromes v0.0 TTR Zornitza Stark gene: TTR was added
gene: TTR was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TTR were set to 14640030; 26800456; 12771253; 30120737; 16433699; 25069833; 30878017; 31111153; 31118583; 28678039; 19365058; 31131842; 8309582; The Metabolic and Molecular Bases of Inherited Disease. Vol. IV. 8th ed.Benson, M. D. Amyloidosis. In: Scriver, C. R et al.: New York: McGraw-Hill . 2001; 3011930
Phenotypes for gene: TTR were set to Hereditary amyloidosis; Amyloidosis, hereditary, transthyretin-related, 105210; Familial amyloid polyneuropathy; Carpal tunnel syndrome, familial, 115430
Pain syndromes v0.0 TRPA1 Zornitza Stark gene: TRPA1 was added
gene: TRPA1 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: TRPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRPA1 were set to 28314413; 21468319; 24778270; 20718100; 16564016; 28436534; 24564660; 20547126
Phenotypes for gene: TRPA1 were set to Familial episodic pain syndrome type I; Episodic pain syndrome, familial, 615040
Pain syndromes v0.0 SPTLC2 Zornitza Stark gene: SPTLC2 was added
gene: SPTLC2 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPTLC2 were set to 26681808; 23658386; 12207934; 27025386; 20920666
Phenotypes for gene: SPTLC2 were set to Hereditary sensory and autonomic neuropathy type IC; HSAN 1; Neuropathy, hereditary sensory and autonomic, type IC, 613640
Pain syndromes v0.0 SPTLC1 Zornitza Stark gene: SPTLC1 was added
gene: SPTLC1 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPTLC1 were set to 11242114; 11242106; 15037712
Phenotypes for gene: SPTLC1 were set to Neuropathy, hereditary sensory and autonomic, type IA, 162400; HSAN 1; Hereditary sensory neuropathy type IA
Pain syndromes v0.0 SEPT9 Zornitza Stark gene: SEPT9 was added
gene: SEPT9 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SEPT9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SEPT9 were set to 21556032; 16186812; 19451530
Phenotypes for gene: SEPT9 were set to Amyotrophy, hereditary neuralgic, 162100; Hereditary neuralgic amyotrophy
Pain syndromes v0.0 SCN9A Zornitza Stark gene: SCN9A was added
gene: SCN9A was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SCN9A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SCN9A were set to 16392115; 17167479; 17470132; 17145499; 17679678; 25316021; 15958509; 28665811; 23596073; 24817410; 28235406; 16216943; 24813307; 14985375; 1536168
Phenotypes for gene: SCN9A were set to HSAN2D, autosomal recessive, AR, 243000; Erythermalgia, primary, AD, 133020; Insensitivity to pain, congenital, AR, 243000; Small fiber neuropathy, AD,133020; Paroxysmal extreme pain disorder, AD, 167400
Pain syndromes v0.0 SCN11A Zornitza Stark gene: SCN11A was added
gene: SCN11A was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SCN11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SCN11A were set to 28298626; 24776970; 25316021; 24207120; 27503742; 24036948; 28665811; 24813307; 26645915
Phenotypes for gene: SCN11A were set to Neuropathy, hereditary sensory and autonomic, type VII, 615548; Episodic pain syndrome, familial, 3, 615552; Hereditary sensory and autonomic neuropathy type VII; Familial episodic pain syndrome
Pain syndromes v0.0 SCN10A Zornitza Stark gene: SCN10A was added
gene: SCN10A was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SCN10A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SCN10A were set to 23115331; 26711856; 24776970; 25316021; 25250524; 24006052; 28665811; 27598514; 24813307
Phenotypes for gene: SCN10A were set to Small fibre neuropathy; Painful small fibre neuropathy; SFN; Episodic pain syndrome, familial, 2, 615551; Familial episodic pain syndrome-2
Pain syndromes v0.0 RETREG1 Zornitza Stark gene: RETREG1 was added
gene: RETREG1 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RETREG1 were set to 19838196; 21115472; 24327336
Phenotypes for gene: RETREG1 were set to Hereditary sensory and autonomic neuropathy; Neuropathy, hereditary sensory and autonomic, type IIB, 613115; HSAN 2B
Pain syndromes v0.0 RAB7A Zornitza Stark gene: RAB7A was added
gene: RAB7A was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: RAB7A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RAB7A were set to 17060578; 15455439; 12545426
Phenotypes for gene: RAB7A were set to HSAN1/2B; Hereditary motor and sensory neuropathy IIB; Charcot-Marie-Tooth disease, type 2B, 600882
Pain syndromes v0.0 PRNP Zornitza Stark gene: PRNP was added
gene: PRNP was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRNP were set to 27716661; 24224623; 25287017; 26768678
Phenotypes for gene: PRNP were set to Cerebral amyloid angiopathy, PRNP-related, 137440
Pain syndromes v0.0 PRDM12 Zornitza Stark gene: PRDM12 was added
gene: PRDM12 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: PRDM12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRDM12 were set to 26975306; 25891934; 26005867
Phenotypes for gene: PRDM12 were set to insensitivity to pain; Neuropathy, hereditary sensory and autonomic, type VIII, 616488; HSAN VIII; HSAN 8; Hereditary sensory and autonomic neuropathy type VIII
Pain syndromes v0.0 NTRK1 Zornitza Stark gene: NTRK1 was added
gene: NTRK1 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NTRK1 were set to 11668614; 8696348; 18077166
Phenotypes for gene: NTRK1 were set to HSAN 4; Insensitivity to pain, congenital, with anhidrosis, 256800; Hereditary sensory neuropathy type IV
Pain syndromes v0.0 NGF Zornitza Stark gene: NGF was added
gene: NGF was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: NGF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NGF were set to 26562335; 20978020; 14976160; 15131306
Phenotypes for gene: NGF were set to Neuropathy, hereditary sensory and autonomic, type V, 608654; HSAN 5; Congenital sensory neuropathy with selective loss of small myelinated fibers; Hereditary sensory neuropathy type V
Pain syndromes v0.0 KIF1A Zornitza Stark gene: KIF1A was added
gene: KIF1A was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: KIF1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF1A were set to 25265257; 21820098
Phenotypes for gene: KIF1A were set to Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory, type IIC, 614213
Pain syndromes v0.0 GLA Zornitza Stark gene: GLA was added
gene: GLA was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: GLA were set to Fabry disease, 301500
Pain syndromes v0.0 ELP1 Zornitza Stark gene: ELP1 was added
gene: ELP1 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELP1 were set to 17985250; 11179021; 11179008; 8102296
Phenotypes for gene: ELP1 were set to Familial dysautonomia; NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; Dysautonomia, familial, 223900
Pain syndromes v0.0 ATL3 Zornitza Stark gene: ATL3 was added
gene: ATL3 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: ATL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATL3 were set to 24459106; 24736309
Phenotypes for gene: ATL3 were set to Neuropathy, hereditary sensory, type IF, 615632; HSN1F
Pain syndromes v0.0 ATL1 Zornitza Stark gene: ATL1 was added
gene: ATL1 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: ATL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATL1 were set to 21194679; 22340599
Phenotypes for gene: ATL1 were set to HSN1D; Neuropathy, hereditary sensory, type ID, 613708; Hereditary spastic paraplegia, 182600; Hereditary sensory neuropathy
Pain syndromes v0.0 Zornitza Stark Added panel Pain syndromes
Osteogenesis Imperfecta and Osteoporosis v0.4 UNC45A Bryony Thompson Classified gene: UNC45A as Amber List (moderate evidence)
Osteogenesis Imperfecta and Osteoporosis v0.4 UNC45A Bryony Thompson Added comment: Comment on list classification: Not enough evidence currently to determine bone fragility is a prominent feature of the condition.
Osteogenesis Imperfecta and Osteoporosis v0.4 UNC45A Bryony Thompson Gene: unc45a has been classified as Amber List (Moderate Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.3 UNC45A Bryony Thompson reviewed gene: UNC45A: Rating: AMBER; Mode of pathogenicity: None; Publications: 29429573; Phenotypes: cholestasis, congenital diarrhea, impaired hearing, bone fragility; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1891 NEK10 Zornitza Stark Marked gene: NEK10 as ready
Mendeliome v0.1891 NEK10 Zornitza Stark Gene: nek10 has been classified as Green List (High Evidence).
Mendeliome v0.1891 NEK10 Zornitza Stark Classified gene: NEK10 as Green List (high evidence)
Mendeliome v0.1891 NEK10 Zornitza Stark Gene: nek10 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.26 NEK10 Zornitza Stark Marked gene: NEK10 as ready
Ciliary Dyskinesia v0.26 NEK10 Zornitza Stark Gene: nek10 has been classified as Green List (High Evidence).
Mendeliome v0.1890 NEK10 Zornitza Stark gene: NEK10 was added
gene: NEK10 was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: NEK10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEK10 were set to 31959991
Phenotypes for gene: NEK10 were set to Primary ciliary dyskinesia; bronchiectasis
Review for gene: NEK10 was set to GREEN
Added comment: Nine individuals from 5 unrelated families, some functional data.
Sources: NHS GMS
Ciliary Dyskinesia v0.26 NEK10 Zornitza Stark Phenotypes for gene: NEK10 were changed from to Primary ciliary dyskinesia; bronchiectasis
Ciliary Dyskinesia v0.25 NEK10 Zornitza Stark Classified gene: NEK10 as Green List (high evidence)
Ciliary Dyskinesia v0.25 NEK10 Zornitza Stark Gene: nek10 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.24 NEK10 Zornitza Stark gene: NEK10 was added
gene: NEK10 was added to Ciliary Dyskinesia. Sources: NHS GMS
Mode of inheritance for gene: NEK10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEK10 were set to 31959991
Review for gene: NEK10 was set to GREEN
gene: NEK10 was marked as current diagnostic
Added comment: Nine individuals from 5 unrelated families, some functional data.
Sources: NHS GMS
Genetic Epilepsy v0.644 PIGK Zornitza Stark Marked gene: PIGK as ready
Genetic Epilepsy v0.644 PIGK Zornitza Stark Gene: pigk has been classified as Green List (High Evidence).
Genetic Epilepsy v0.644 PIGK Zornitza Stark Classified gene: PIGK as Green List (high evidence)
Genetic Epilepsy v0.644 PIGK Zornitza Stark Gene: pigk has been classified as Green List (High Evidence).
Genetic Epilepsy v0.643 PIGK Zornitza Stark gene: PIGK was added
gene: PIGK was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PIGK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGK were set to 32220290
Phenotypes for gene: PIGK were set to Intellectual disability; seizures; cerebellar atrophy
Review for gene: PIGK was set to GREEN
Added comment: 12 individuals from 9 unrelated families reported.
Sources: Literature
Mendeliome v0.1889 PIGK Zornitza Stark Marked gene: PIGK as ready
Mendeliome v0.1889 PIGK Zornitza Stark Gene: pigk has been classified as Green List (High Evidence).
Mendeliome v0.1889 PIGK Zornitza Stark Classified gene: PIGK as Green List (high evidence)
Mendeliome v0.1889 PIGK Zornitza Stark Gene: pigk has been classified as Green List (High Evidence).
Mendeliome v0.1888 PIGK Zornitza Stark gene: PIGK was added
gene: PIGK was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PIGK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGK were set to 32220290
Phenotypes for gene: PIGK were set to Intellectual disability; seizures; cerebellar atrophy
Review for gene: PIGK was set to GREEN
Added comment: 12 individuals from 9 unrelated families reported.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2503 PIGK Zornitza Stark Classified gene: PIGK as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2503 PIGK Zornitza Stark Gene: pigk has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2502 PIGK Zornitza Stark gene: PIGK was added
gene: PIGK was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: PIGK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGK were set to 32220290
Phenotypes for gene: PIGK were set to Intellectual disability; seizures; cerebellar atrophy
Review for gene: PIGK was set to GREEN
Added comment: 12 individuals from 9 unrelated families reported.
Sources: Literature
Microcephaly v0.102 ADARB1 Zornitza Stark Classified gene: ADARB1 as Green List (high evidence)
Microcephaly v0.102 ADARB1 Zornitza Stark Gene: adarb1 has been classified as Green List (High Evidence).
Microcephaly v0.101 ADARB1 Zornitza Stark gene: ADARB1 was added
gene: ADARB1 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: ADARB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADARB1 were set to 32220291
Phenotypes for gene: ADARB1 were set to Intellectual disability; microcephaly; seizures
Review for gene: ADARB1 was set to GREEN
Added comment: Four unrelated individuals with bi-allelic variants in this gene.
Sources: Literature
Genetic Epilepsy v0.642 ADARB1 Zornitza Stark Classified gene: ADARB1 as Green List (high evidence)
Genetic Epilepsy v0.642 ADARB1 Zornitza Stark Gene: adarb1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.641 ADARB1 Zornitza Stark gene: ADARB1 was added
gene: ADARB1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: ADARB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADARB1 were set to 32220291
Phenotypes for gene: ADARB1 were set to Intellectual disability; microcephaly; seizures
Review for gene: ADARB1 was set to GREEN
Added comment: Four unrelated individuals with bi-allelic variants in this gene.
Sources: Literature
Mendeliome v0.1887 ADARB1 Zornitza Stark Marked gene: ADARB1 as ready
Mendeliome v0.1887 ADARB1 Zornitza Stark Gene: adarb1 has been classified as Green List (High Evidence).
Mendeliome v0.1887 ADARB1 Zornitza Stark Classified gene: ADARB1 as Green List (high evidence)
Mendeliome v0.1887 ADARB1 Zornitza Stark Gene: adarb1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2501 ADARB1 Zornitza Stark Marked gene: ADARB1 as ready
Intellectual disability syndromic and non-syndromic v0.2501 ADARB1 Zornitza Stark Gene: adarb1 has been classified as Green List (High Evidence).
Mendeliome v0.1886 ADARB1 Zornitza Stark gene: ADARB1 was added
gene: ADARB1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ADARB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADARB1 were set to 32220291
Phenotypes for gene: ADARB1 were set to Intellectual disability; microcephaly; seizures
Review for gene: ADARB1 was set to GREEN
Added comment: Four unrelated individuals with bi-allelic variants in this gene.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2501 ADARB1 Zornitza Stark Classified gene: ADARB1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2501 ADARB1 Zornitza Stark Gene: adarb1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2500 ADARB1 Zornitza Stark Classified gene: ADARB1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2500 ADARB1 Zornitza Stark Gene: adarb1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2500 ADARB1 Zornitza Stark Classified gene: ADARB1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2500 ADARB1 Zornitza Stark Gene: adarb1 has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.8 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital
Intellectual disability syndromic and non-syndromic v0.2499 ADARB1 Zornitza Stark gene: ADARB1 was added
gene: ADARB1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ADARB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADARB1 were set to 32220291
Phenotypes for gene: ADARB1 were set to Intellectual disability; microcephaly; seizures
Review for gene: ADARB1 was set to GREEN
Added comment: Four unrelated individuals with bi-allelic variants in this gene.
Sources: Literature
Hypophosphataemia or rickets v0.7 KL Bryony Thompson Marked gene: KL as ready
Hypophosphataemia or rickets v0.7 KL Bryony Thompson Gene: kl has been classified as Red List (Low Evidence).
Hypophosphataemia or rickets v0.7 KL Bryony Thompson Classified gene: KL as Red List (low evidence)
Hypophosphataemia or rickets v0.7 KL Bryony Thompson Gene: kl has been classified as Red List (Low Evidence).
Hypophosphataemia or rickets v0.6 KL Bryony Thompson reviewed gene: KL: Rating: RED; Mode of pathogenicity: None; Publications: 17710231; Phenotypes: ?Tumoral calcinosis, hyperphosphatemic, familial, 3 MIM#617994; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypophosphataemia or rickets v0.6 CYP2R1 Bryony Thompson Marked gene: CYP2R1 as ready
Hypophosphataemia or rickets v0.6 CYP2R1 Bryony Thompson Gene: cyp2r1 has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.6 CYP2R1 Bryony Thompson Classified gene: CYP2R1 as Green List (high evidence)
Hypophosphataemia or rickets v0.6 CYP2R1 Bryony Thompson Gene: cyp2r1 has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.5 CYP2R1 Bryony Thompson gene: CYP2R1 was added
gene: CYP2R1 was added to Hypophosphataemic Rickets. Sources: Expert list
Mode of inheritance for gene: CYP2R1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP2R1 were set to 15128933; 28548312
Phenotypes for gene: CYP2R1 were set to Rickets due to defect in vitamin D 25-hydroxylation MIM#600081
Review for gene: CYP2R1 was set to GREEN
gene: CYP2R1 was marked as current diagnostic
Added comment: At least 6 families with biallelic variants.
Sources: Expert list
Hereditary Neuropathy v0.41 NAGA Zornitza Stark Marked gene: NAGA as ready
Hereditary Neuropathy v0.41 NAGA Zornitza Stark Gene: naga has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.41 NAGA Zornitza Stark Classified gene: NAGA as Green List (high evidence)
Hereditary Neuropathy v0.41 NAGA Zornitza Stark Gene: naga has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.40 NAGA Zornitza Stark gene: NAGA was added
gene: NAGA was added to Hereditary Neuropathy - complex. Sources: NHS GMS
Mode of inheritance for gene: NAGA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGA were set to Kanzaki disease, MIM#609242
Review for gene: NAGA was set to GREEN
Added comment: Adult onset diffuse angiokeratoma, sensory-neural hearing loss, recurrent episodes of vertigo, sensory-motor axonal neuropathy. Periventricular white matter abnormalities on MRI.
Sources: NHS GMS
Usher Syndrome v0.6 HARS Bryony Thompson Marked gene: HARS as ready
Usher Syndrome v0.6 HARS Bryony Thompson Gene: hars has been classified as Red List (Low Evidence).
Usher Syndrome v0.6 HARS Bryony Thompson Classified gene: HARS as Red List (low evidence)
Usher Syndrome v0.6 HARS Bryony Thompson Gene: hars has been classified as Red List (Low Evidence).
Retinal Disorders Superpanel v0.0 Bryony Thompson Added Panel Retinal Disorders
Set child panels to: Autosomal Recessive/X-Linked Retinitis Pigmentosa; Macular Dystrophy/Stargardt Disease; Syndromic Retinopathy; Autosomal Dominant Retinitis Pigmentosa; Usher Syndrome; Stickler Syndrome; Vitreoretinopathy; Congenital Stationary Night Blindness_RMH
Set panel types to: Royal Melbourne Hospital; Rare Disease
Hereditary Neuropathy v0.39 IARS2 Zornitza Stark Marked gene: IARS2 as ready
Hereditary Neuropathy v0.39 IARS2 Zornitza Stark Gene: iars2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.39 IARS2 Zornitza Stark Classified gene: IARS2 as Green List (high evidence)
Hereditary Neuropathy v0.39 IARS2 Zornitza Stark Gene: iars2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.38 IARS2 Zornitza Stark gene: IARS2 was added
gene: IARS2 was added to Hereditary Neuropathy - complex. Sources: NHS GMS
Mode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IARS2 were set to 28328135; 30419932; 25130867; 30041933
Phenotypes for gene: IARS2 were set to Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, MIM# 616007
Review for gene: IARS2 was set to GREEN
Added comment: Sources: NHS GMS
Motor Neurone Disease v0.36 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Motor Neurone Disease v0.35 UBQLN4 Bryony Thompson Classified gene: UBQLN4 as Amber List (moderate evidence)
Motor Neurone Disease v0.35 UBQLN4 Bryony Thompson Gene: ubqln4 has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.34 UBQLN4 Bryony Thompson gene: UBQLN4 was added
gene: UBQLN4 was added to Motor Neuron Disease. Sources: Expert list
Mode of inheritance for gene: UBQLN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UBQLN4 were set to 28463112; 30804504
Phenotypes for gene: UBQLN4 were set to Amyotrophic lateral sclerosis
Review for gene: UBQLN4 was set to AMBER
Added comment: A single familial case and supporting functional studies and animal model.
Sources: Expert list
Mendeliome v0.1885 HSPB3 Zornitza Stark Marked gene: HSPB3 as ready
Mendeliome v0.1885 HSPB3 Zornitza Stark Gene: hspb3 has been classified as Red List (Low Evidence).
Mendeliome v0.1885 HSPB3 Zornitza Stark Phenotypes for gene: HSPB3 were changed from to Neuronopathy, distal hereditary motor, type IIC, MIM# 613376
Mendeliome v0.1884 HSPB3 Zornitza Stark Publications for gene: HSPB3 were set to
Mendeliome v0.1883 HSPB3 Zornitza Stark Mode of inheritance for gene: HSPB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1882 HSPB3 Zornitza Stark Classified gene: HSPB3 as Red List (low evidence)
Mendeliome v0.1882 HSPB3 Zornitza Stark Gene: hspb3 has been classified as Red List (Low Evidence).
Mendeliome v0.1881 HSPB3 Zornitza Stark reviewed gene: HSPB3: Rating: RED; Mode of pathogenicity: None; Publications: 20142617, 27549087; Phenotypes: Neuronopathy, distal hereditary motor, type IIC, MIM# 613376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy v0.37 GJC2 Zornitza Stark Marked gene: GJC2 as ready
Hereditary Neuropathy v0.37 GJC2 Zornitza Stark Gene: gjc2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.37 GJC2 Zornitza Stark Classified gene: GJC2 as Green List (high evidence)
Hereditary Neuropathy v0.37 GJC2 Zornitza Stark Gene: gjc2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.36 GJC2 Zornitza Stark gene: GJC2 was added
gene: GJC2 was added to Hereditary Neuropathy - complex. Sources: NHS GMS
Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GJC2 were set to Leukodystrophy, hypomyelinating, 2, MIM# 608804
Review for gene: GJC2 was set to GREEN
Added comment: Demyelinating neuropathy; axonal sensory neuropathy.
Sources: NHS GMS
Hereditary Neuropathy v0.35 FXN Zornitza Stark Marked gene: FXN as ready
Hereditary Neuropathy v0.35 FXN Zornitza Stark Gene: fxn has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.35 FXN Zornitza Stark Tag STR tag was added to gene: FXN.
Hereditary Neuropathy v0.35 FXN Zornitza Stark Classified gene: FXN as Green List (high evidence)
Hereditary Neuropathy v0.35 FXN Zornitza Stark Gene: fxn has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.34 FXN Zornitza Stark gene: FXN was added
gene: FXN was added to Hereditary Neuropathy - complex. Sources: NHS GMS
Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FXN were set to Friedreich ataxia, MIM# 229300
Mode of pathogenicity for gene: FXN was set to Other
Review for gene: FXN was set to GREEN
Added comment: Peripheral sensory neuropathy is part of the phenotype. Note only ~2% of cases are due to SNVs, majority due to STRs.
Sources: NHS GMS
Motor Neurone Disease v0.33 TIA1 Bryony Thompson Marked gene: TIA1 as ready
Motor Neurone Disease v0.33 TIA1 Bryony Thompson Gene: tia1 has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.33 TIA1 Bryony Thompson Classified gene: TIA1 as Amber List (moderate evidence)
Motor Neurone Disease v0.33 TIA1 Bryony Thompson Gene: tia1 has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.32 TIA1 Bryony Thompson gene: TIA1 was added
gene: TIA1 was added to Motor Neuron Disease. Sources: Expert list
Mode of inheritance for gene: TIA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TIA1 were set to 29235362; 29886022; 29773329; 29699721; 29216908; 24659297; 29457785; 28817800
Review for gene: TIA1 was set to AMBER
Added comment: >3 cases with ALS and functional studies, but no true replication study
Sources: Expert list
Motor Neurone Disease v0.31 TAF15 Bryony Thompson Marked gene: TAF15 as ready
Motor Neurone Disease v0.31 TAF15 Bryony Thompson Gene: taf15 has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.31 TAF15 Bryony Thompson Classified gene: TAF15 as Amber List (moderate evidence)
Motor Neurone Disease v0.31 TAF15 Bryony Thompson Gene: taf15 has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.30 TAF15 Bryony Thompson gene: TAF15 was added
gene: TAF15 was added to Motor Neuron Disease. Sources: Expert list
Mode of inheritance for gene: TAF15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TAF15 were set to 21438137; 22065782; 27810362; 28889094
Phenotypes for gene: TAF15 were set to Amyotrophic lateral sclerosis
Review for gene: TAF15 was set to AMBER
Added comment: No family studies, but >3 cases and functional studies.
Sources: Expert list
Motor Neurone Disease v0.29 UBA1 Bryony Thompson Deleted their review
Motor Neurone Disease v0.29 SS18L1 Bryony Thompson Marked gene: SS18L1 as ready
Motor Neurone Disease v0.29 SS18L1 Bryony Thompson Gene: ss18l1 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.29 SS18L1 Bryony Thompson Classified gene: SS18L1 as Green List (high evidence)
Motor Neurone Disease v0.29 SS18L1 Bryony Thompson Gene: ss18l1 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.28 TRIP4 Bryony Thompson Deleted their review
Motor Neurone Disease v0.28 SS18L1 Bryony Thompson gene: SS18L1 was added
gene: SS18L1 was added to Motor Neuron Disease. Sources: Expert list
Mode of inheritance for gene: SS18L1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SS18L1 were set to 25888396; 24360741; 23708140; 30976389
Phenotypes for gene: SS18L1 were set to amyotrophic lateral sclerosis
Review for gene: SS18L1 was set to GREEN
Added comment: >3 cases with heterozygote variants (de novo status confirmed or expected), and supporting functional evidence.
Sources: Expert list
Mendeliome v0.1881 FBXO38 Zornitza Stark Marked gene: FBXO38 as ready
Mendeliome v0.1881 FBXO38 Zornitza Stark Gene: fbxo38 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1881 FBXO38 Zornitza Stark Phenotypes for gene: FBXO38 were changed from to Neuropathy, distal hereditary motor, type IID, 615575; dHMN/dSMA
Mendeliome v0.1880 FBXO38 Zornitza Stark Publications for gene: FBXO38 were set to
Mendeliome v0.1879 FBXO38 Zornitza Stark Mode of inheritance for gene: FBXO38 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1878 FBXO38 Zornitza Stark Classified gene: FBXO38 as Amber List (moderate evidence)
Mendeliome v0.1878 FBXO38 Zornitza Stark Gene: fbxo38 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1877 FBXO38 Zornitza Stark reviewed gene: FBXO38: Rating: AMBER; Mode of pathogenicity: None; Publications: 24207122, 31420593; Phenotypes: Neuronopathy, distal hereditary motor, type IID, 615575, dHMN/dSMA; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy v0.33 FAH Zornitza Stark Marked gene: FAH as ready
Hereditary Neuropathy v0.33 FAH Zornitza Stark Gene: fah has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.33 FAH Zornitza Stark Classified gene: FAH as Green List (high evidence)
Hereditary Neuropathy v0.33 FAH Zornitza Stark Gene: fah has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.32 FAH Zornitza Stark gene: FAH was added
gene: FAH was added to Hereditary Neuropathy - complex. Sources: NHS GMS
Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAH were set to Tyrosinemia, type I, MIM# 276700
Review for gene: FAH was set to GREEN
Added comment: Episodic peripheral neuropathy.
Sources: NHS GMS
Motor Neurone Disease v0.27 PRPH Bryony Thompson Classified gene: PRPH as Amber List (moderate evidence)
Motor Neurone Disease v0.27 PRPH Bryony Thompson Gene: prph has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.26 PRPH Bryony Thompson changed review comment from: Reported in OMIM as an ALS susceptibility loci. Two heterozygous cases and a homozygous case reported, with some supporting evidence in a mouse model.
Sources: Expert list; to: Reported in OMIM as an ALS susceptibility loci. Two heterozygous cases and a homozygous case (Asp141Tyr) reported that doesn't appear to have more severe disease. The Asp141Tyr missense NFE AF in gnomAD is 0.005730, which is on the high side. There is also some supporting evidence in a mouse model.
Sources: Expert list
Motor Neurone Disease v0.26 PRPH Bryony Thompson changed review comment from: ALS susceptibility loci
Sources: Expert list; to: Reported in OMIM as an ALS susceptibility loci. Two heterozygous cases and a homozygous case reported, with some supporting evidence in a mouse model.
Sources: Expert list
Motor Neurone Disease v0.26 PRPH Bryony Thompson edited their review of gene: PRPH: Changed publications: 20363051, 15322088, 15446584
Mendeliome v0.1877 DRP2 Zornitza Stark Marked gene: DRP2 as ready
Mendeliome v0.1877 DRP2 Zornitza Stark Gene: drp2 has been classified as Green List (High Evidence).
Mendeliome v0.1877 DRP2 Zornitza Stark Classified gene: DRP2 as Green List (high evidence)
Mendeliome v0.1877 DRP2 Zornitza Stark Gene: drp2 has been classified as Green List (High Evidence).
Mendeliome v0.1876 DRP2 Zornitza Stark gene: DRP2 was added
gene: DRP2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: DRP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: DRP2 were set to 26227883; 11430802; 31217940; 22764250; 29473052
Phenotypes for gene: DRP2 were set to Charcot Marie Tooth, intermediate X-linked; HMSN
Review for gene: DRP2 was set to GREEN
Added comment: Three unrelated families, functional data.
Sources: Expert list
Motor Neurone Disease v0.26 PLEKHG5 Bryony Thompson Deleted their review
Motor Neurone Disease v0.26 KIF5A Bryony Thompson Classified gene: KIF5A as Green List (high evidence)
Motor Neurone Disease v0.26 KIF5A Bryony Thompson Gene: kif5a has been classified as Green List (High Evidence).
Motor Neurone Disease v0.25 KIF5A Bryony Thompson gene: KIF5A was added
gene: KIF5A was added to Motor Neuron Disease. Sources: Expert list
Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF5A were set to 29342275; 30301576; 29566793
Phenotypes for gene: KIF5A were set to {Amyotrophic lateral sclerosis, susceptibility to, 25} MIM#617921
Review for gene: KIF5A was set to GREEN
Added comment: 12 patients from 9 unrelated families with ALS, had heterozygous LOF variants in the C-terminal region cargo-binding region. Variants causing SPG10 are almost exclusively missense mutations that affect the N-terminal motor domain.
Sources: Expert list
Motor Neurone Disease v0.24 GNE Bryony Thompson gene: GNE was added
gene: GNE was added to Motor Neuron Disease. Sources: Expert list
Mode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNE were set to 29086072
Phenotypes for gene: GNE were set to Amyotrophic lateral sclerosis
Review for gene: GNE was set to RED
Added comment: Single family reported with ALS
Sources: Expert list
Motor Neurone Disease v0.23 GLT8D1 Bryony Thompson Classified gene: GLT8D1 as Green List (high evidence)
Motor Neurone Disease v0.23 GLT8D1 Bryony Thompson Gene: glt8d1 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.22 GLT8D1 Bryony Thompson gene: GLT8D1 was added
gene: GLT8D1 was added to Motor Neuron Disease. Sources: Expert list
Mode of inheritance for gene: GLT8D1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GLT8D1 were set to 30811981
Phenotypes for gene: GLT8D1 were set to Amyotrophic lateral sclerosis
Review for gene: GLT8D1 was set to GREEN
Added comment: 14 ALS cases with heterozygous missense (10 cases with p.R92C), and supporting in vitro functional assays and zebrafish model.
Sources: Expert list
Hereditary Neuropathy v0.31 DGUOK Zornitza Stark Marked gene: DGUOK as ready
Hereditary Neuropathy v0.31 DGUOK Zornitza Stark Gene: dguok has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.31 DGUOK Zornitza Stark Classified gene: DGUOK as Green List (high evidence)
Hereditary Neuropathy v0.31 DGUOK Zornitza Stark Gene: dguok has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.30 DGUOK Zornitza Stark gene: DGUOK was added
gene: DGUOK was added to Hereditary Neuropathy - complex. Sources: NHS GMS
Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 Portal hypertension, noncirrhotic, 617068 Neonatal liver failure, myopathy, sensory-motor axonal neuropathy
Review for gene: DGUOK was set to GREEN
Added comment: Sources: NHS GMS
Mendeliome v0.1875 DGAT2 Zornitza Stark Marked gene: DGAT2 as ready
Mendeliome v0.1875 DGAT2 Zornitza Stark Gene: dgat2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1875 DGAT2 Zornitza Stark Classified gene: DGAT2 as Amber List (moderate evidence)
Mendeliome v0.1875 DGAT2 Zornitza Stark Gene: dgat2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1874 DGAT2 Zornitza Stark gene: DGAT2 was added
gene: DGAT2 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: DGAT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DGAT2 were set to 26786738
Phenotypes for gene: DGAT2 were set to axonal Charcot-Marie-Tooth disease
Review for gene: DGAT2 was set to AMBER
Added comment: Single family (father and son) reported, with supporting in vitro functional assays and a zebrafish model.
Sources: Expert Review
Motor Neurone Disease v0.21 DAO Bryony Thompson gene: DAO was added
gene: DAO was added to Motor Neuron Disease. Sources: Expert list
Mode of inheritance for gene: DAO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DAO were set to 29274788; 29895397; 20368421; 29194436
Phenotypes for gene: DAO were set to Amyotrophic Lateral Sclerosis
Review for gene: DAO was set to RED
Added comment: Many mouse models, but reported variant in a case is R199W, which has gnomAD AF higher than expected for a dominant ALS gene. No compelling evidence in human cases.
Sources: Expert list
Motor Neurone Disease v0.20 EWSR1 Bryony Thompson Classified gene: EWSR1 as Amber List (moderate evidence)
Motor Neurone Disease v0.20 EWSR1 Bryony Thompson Gene: ewsr1 has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.19 EWSR1 Bryony Thompson gene: EWSR1 was added
gene: EWSR1 was added to Motor Neuron Disease. Sources: Expert list
Mode of inheritance for gene: EWSR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EWSR1 were set to 29731676; 22454397
Phenotypes for gene: EWSR1 were set to Amyotrophic lateral sclerosis
Review for gene: EWSR1 was set to AMBER
Added comment: Mouse model and 2 missense reported in 2 ALS cases, but no other reports in ALS cases since 2012
Sources: Expert list
Mendeliome v0.1873 ERLIN1 Bryony Thompson Classified gene: ERLIN1 as Green List (high evidence)
Mendeliome v0.1873 ERLIN1 Bryony Thompson Gene: erlin1 has been classified as Green List (High Evidence).
Mendeliome v0.1872 ERLIN1 Bryony Thompson gene: ERLIN1 was added
gene: ERLIN1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ERLIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERLIN1 were set to 24482476
Phenotypes for gene: ERLIN1 were set to Spastic paraplegia 62 MIM#615681
Review for gene: ERLIN1 was set to GREEN
Added comment: Three unrelated consanguineous families with early onset pure HSP.
Sources: Expert list
Motor Neurone Disease v0.18 ERLIN1 Bryony Thompson gene: ERLIN1 was added
gene: ERLIN1 was added to Motor Neuron Disease. Sources: Expert list
Mode of inheritance for gene: ERLIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERLIN1 were set to 29453415
Phenotypes for gene: ERLIN1 were set to Amyotrophic lateral sclerosis
Review for gene: ERLIN1 was set to RED
Added comment: Homozygous varinat segregates with ALS in a single family
Sources: Expert list
Hereditary Neuropathy v0.29 CPOX Zornitza Stark Marked gene: CPOX as ready
Hereditary Neuropathy v0.29 CPOX Zornitza Stark Gene: cpox has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.29 CPOX Zornitza Stark Classified gene: CPOX as Green List (high evidence)
Hereditary Neuropathy v0.29 CPOX Zornitza Stark Gene: cpox has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.28 CPOX Zornitza Stark gene: CPOX was added
gene: CPOX was added to Hereditary Neuropathy - complex. Sources: NHS GMS
Mode of inheritance for gene: CPOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CPOX were set to Coproporphyria, MIM#121300; Harderoporphyria, MIM#121300
Review for gene: CPOX was set to GREEN
Added comment: Acute intermittent porphyria-like phenotype, including neuropathy.
Sources: NHS GMS
Hereditary Neuropathy v0.27 CD59 Zornitza Stark Marked gene: CD59 as ready
Hereditary Neuropathy v0.27 CD59 Zornitza Stark Gene: cd59 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.27 CD59 Zornitza Stark Classified gene: CD59 as Green List (high evidence)
Hereditary Neuropathy v0.27 CD59 Zornitza Stark Gene: cd59 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.26 CD59 Zornitza Stark gene: CD59 was added
gene: CD59 was added to Hereditary Neuropathy - complex. Sources: NHS GMS
Mode of inheritance for gene: CD59 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD59 were set to 24382084; 23149847
Phenotypes for gene: CD59 were set to Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy 612300
Review for gene: CD59 was set to GREEN
Added comment: Infantile onset of a relapsing-remitting polyneuropathy, often exacerbated by infection, and manifest as hypotonia, limb muscle weakness, and hyporeflexia.
Sources: NHS GMS
Hereditary Neuropathy v0.25 BCKDHB Zornitza Stark Marked gene: BCKDHB as ready
Hereditary Neuropathy v0.25 BCKDHB Zornitza Stark Gene: bckdhb has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.25 BCKDHB Zornitza Stark Classified gene: BCKDHB as Green List (high evidence)
Hereditary Neuropathy v0.25 BCKDHB Zornitza Stark Gene: bckdhb has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.24 BCKDHB Zornitza Stark gene: BCKDHB was added
gene: BCKDHB was added to Hereditary Neuropathy - complex. Sources: NHS GMS
Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCKDHB were set to Maple Syrup Urine Disease, Metabolic encephalopathy, elevated branched chain amino acids in urine, acute axonal neuropathy
Review for gene: BCKDHB was set to GREEN
Added comment: Sources: NHS GMS
Motor Neurone Disease v0.17 ERBB4 Bryony Thompson Marked gene: ERBB4 as ready
Motor Neurone Disease v0.17 ERBB4 Bryony Thompson Gene: erbb4 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.17 ERBB4 Bryony Thompson Classified gene: ERBB4 as Green List (high evidence)
Motor Neurone Disease v0.17 ERBB4 Bryony Thompson Gene: erbb4 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.16 ERBB4 Bryony Thompson gene: ERBB4 was added
gene: ERBB4 was added to Motor Neuron Disease. Sources: Expert list
Mode of inheritance for gene: ERBB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ERBB4 were set to 24119685; 28889094
Phenotypes for gene: ERBB4 were set to Amyotrophic lateral sclerosis 19 MIM#615515
Review for gene: ERBB4 was set to GREEN
Added comment: At least 4 cases with ALS
Sources: Expert list
Hereditary Neuropathy v0.23 APOA1 Zornitza Stark Marked gene: APOA1 as ready
Hereditary Neuropathy v0.23 APOA1 Zornitza Stark Gene: apoa1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.23 APOA1 Zornitza Stark Classified gene: APOA1 as Green List (high evidence)
Hereditary Neuropathy v0.23 APOA1 Zornitza Stark Gene: apoa1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.22 APOA1 Zornitza Stark gene: APOA1 was added
gene: APOA1 was added to Hereditary Neuropathy - complex. Sources: NHS GMS
Mode of inheritance for gene: APOA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: APOA1 were set to Amyloidosis, 3 or more types 105200; Renal failure, Axonal sensory-motor neuropathy, amyloid nephropathy
Review for gene: APOA1 was set to GREEN
Added comment: Neuropathy is a predominant feature, particularly of the Iowa type, associated with p.Gly26Arg
Sources: NHS GMS
Mendeliome v0.1871 BTBD7 Zornitza Stark Marked gene: BTBD7 as ready
Mendeliome v0.1871 BTBD7 Zornitza Stark Added comment: Comment when marking as ready: Agreed, no evidence currently for Mendelian gene-disease association.
Mendeliome v0.1871 BTBD7 Zornitza Stark Gene: btbd7 has been classified as Red List (Low Evidence).
Mendeliome v0.1871 BTBD7 Zornitza Stark Classified gene: BTBD7 as Red List (low evidence)
Mendeliome v0.1871 BTBD7 Zornitza Stark Gene: btbd7 has been classified as Red List (Low Evidence).
Mendeliome v0.1870 NOS1AP Zornitza Stark Marked gene: NOS1AP as ready
Mendeliome v0.1870 NOS1AP Zornitza Stark Added comment: Comment when marking as ready: Agreed, cannot find evidence for Mendelian gene-disease association.
Mendeliome v0.1870 NOS1AP Zornitza Stark Gene: nos1ap has been classified as Red List (Low Evidence).
Mendeliome v0.1870 NOS1AP Zornitza Stark Classified gene: NOS1AP as Red List (low evidence)
Mendeliome v0.1870 NOS1AP Zornitza Stark Gene: nos1ap has been classified as Red List (Low Evidence).
Mendeliome v0.1869 ARID2 Zornitza Stark Marked gene: ARID2 as ready
Mendeliome v0.1869 ARID2 Zornitza Stark Gene: arid2 has been classified as Green List (High Evidence).
Mendeliome v0.1869 ARID2 Zornitza Stark Phenotypes for gene: ARID2 were changed from to Coffin-Siris syndrome 6, MIM#617808
Mendeliome v0.1868 ARID2 Zornitza Stark Publications for gene: ARID2 were set to 30838730
Mendeliome v0.1867 ARID2 Zornitza Stark Publications for gene: ARID2 were set to
Mendeliome v0.1866 ARID2 Zornitza Stark Mode of inheritance for gene: ARID2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1865 DYNC1H1 Zornitza Stark Marked gene: DYNC1H1 as ready
Mendeliome v0.1865 DYNC1H1 Zornitza Stark Gene: dync1h1 has been classified as Green List (High Evidence).
Mendeliome v0.1865 DYNC1H1 Zornitza Stark Phenotypes for gene: DYNC1H1 were changed from to Charcot-Marie-Tooth disease, axonal, type 20; Mental retardation, autosomal dominant 13; Spinal muscular atrophy, lower extremity-predominant 1
Mendeliome v0.1864 DYNC1H1 Zornitza Stark Publications for gene: DYNC1H1 were set to
Mendeliome v0.1863 DYNC1H1 Zornitza Stark Mode of pathogenicity for gene: DYNC1H1 was changed from to Other
Mendeliome v0.1862 DYNC1H1 Zornitza Stark Mode of inheritance for gene: DYNC1H1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2498 PQBP1 Zornitza Stark Marked gene: PQBP1 as ready
Intellectual disability syndromic and non-syndromic v0.2498 PQBP1 Zornitza Stark Gene: pqbp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2498 PQBP1 Zornitza Stark Phenotypes for gene: PQBP1 were changed from to Renpenning syndrome, MIM#309500
Intellectual disability syndromic and non-syndromic v0.2497 PQBP1 Zornitza Stark Publications for gene: PQBP1 were set to
Intellectual disability syndromic and non-syndromic v0.2496 PQBP1 Zornitza Stark Mode of inheritance for gene: PQBP1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2495 PQBP1 Zornitza Stark reviewed gene: PQBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31840929, 14634649, 20410308; Phenotypes: Renpenning syndrome, MIM#309500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1861 PQBP1 Zornitza Stark Marked gene: PQBP1 as ready
Mendeliome v0.1861 PQBP1 Zornitza Stark Gene: pqbp1 has been classified as Green List (High Evidence).
Mendeliome v0.1861 PQBP1 Zornitza Stark Phenotypes for gene: PQBP1 were changed from to Renpenning syndrome, MIM#309500
Mendeliome v0.1860 PQBP1 Zornitza Stark Publications for gene: PQBP1 were set to
Mendeliome v0.1859 PQBP1 Zornitza Stark Mode of pathogenicity for gene: PQBP1 was changed from to Other
Mendeliome v0.1858 PQBP1 Zornitza Stark Mode of inheritance for gene: PQBP1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1857 CHD3 Zornitza Stark Marked gene: CHD3 as ready
Mendeliome v0.1857 CHD3 Zornitza Stark Added comment: Comment when marking as ready: Over 30 unrelated individuals reported.
Mendeliome v0.1857 CHD3 Zornitza Stark Gene: chd3 has been classified as Green List (High Evidence).
Mendeliome v0.1857 CHD3 Zornitza Stark Phenotypes for gene: CHD3 were changed from to Snijders Blok-Campeau syndrome (618205)
Mendeliome v0.1856 CHD3 Zornitza Stark Publications for gene: CHD3 were set to
Mendeliome v0.1855 CHD3 Zornitza Stark Mode of pathogenicity for gene: CHD3 was changed from to Other
Mendeliome v0.1854 CHD3 Zornitza Stark Mode of inheritance for gene: CHD3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.25 TTN Zornitza Stark reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 22335739; Phenotypes: Cardiomyopathy, dilated, 1G, MIM#604145; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.25 TTN Zornitza Stark Marked gene: TTN as ready
Dilated Cardiomyopathy v0.25 TTN Zornitza Stark Gene: ttn has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.25 TTN Zornitza Stark Publications for gene: TTN were set to
Dilated Cardiomyopathy v0.24 TTN Zornitza Stark Phenotypes for gene: TTN were changed from to Cardiomyopathy, dilated, 1G, MIM#604145
Dilated Cardiomyopathy v0.23 TTN Zornitza Stark Mode of inheritance for gene: TTN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v0.35 MYH7 Zornitza Stark Marked gene: MYH7 as ready
Arthrogryposis v0.35 MYH7 Zornitza Stark Gene: myh7 has been classified as Red List (Low Evidence).
Arthrogryposis v0.35 MYH7 Zornitza Stark Phenotypes for gene: MYH7 were changed from to Laing distal myopathy 160500; Myopathy, myosin storage, autosomal dominant 608358; Myopathy, myosin storage, autosomal recessive 255160; Scapuloperoneal syndrome, myopathic type 181430
Arthrogryposis v0.34 MYH7 Zornitza Stark Mode of inheritance for gene: MYH7 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arthrogryposis v0.33 MYH7 Zornitza Stark Publications for gene: MYH7 were set to
Arthrogryposis v0.32 MYH7 Zornitza Stark Classified gene: MYH7 as Red List (low evidence)
Arthrogryposis v0.32 MYH7 Zornitza Stark Gene: myh7 has been classified as Red List (Low Evidence).
Arthrogryposis v0.31 MYH7 Zornitza Stark reviewed gene: MYH7: Rating: RED; Mode of pathogenicity: None; Publications: 27519903; Phenotypes: Laing distal myopathy, MIM# 160500; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.2495 DLG3 Zornitza Stark Marked gene: DLG3 as ready
Intellectual disability syndromic and non-syndromic v0.2495 DLG3 Zornitza Stark Gene: dlg3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2495 DLG3 Zornitza Stark Phenotypes for gene: DLG3 were changed from to Mental retardation, X-linked 90, MIM#300850
Intellectual disability syndromic and non-syndromic v0.2494 DLG3 Zornitza Stark Publications for gene: DLG3 were set to
Intellectual disability syndromic and non-syndromic v0.2493 DLG3 Zornitza Stark Mode of inheritance for gene: DLG3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2492 DLG3 Zornitza Stark reviewed gene: DLG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28777483, 24721225; Phenotypes: Mental retardation, X-linked 90, MIM#300850; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1853 DLG3 Zornitza Stark Marked gene: DLG3 as ready
Mendeliome v0.1853 DLG3 Zornitza Stark Gene: dlg3 has been classified as Green List (High Evidence).
Mendeliome v0.1853 DLG3 Zornitza Stark Phenotypes for gene: DLG3 were changed from to Mental retardation, X-linked 90, MIM#300850
Mendeliome v0.1852 DLG3 Zornitza Stark Publications for gene: DLG3 were set to
Mendeliome v0.1851 DLG3 Zornitza Stark Mode of inheritance for gene: DLG3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hypertrophic cardiomyopathy v0.18 CALR3 Kristin Rigbye reviewed gene: CALR3: Rating: RED; Mode of pathogenicity: Other; Publications: 29988065; Phenotypes: Hypertrophic cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and Platelet Disorders v0.16 FBN2 Zornitza Stark Marked gene: FBN2 as ready
Bleeding and Platelet Disorders v0.16 FBN2 Zornitza Stark Gene: fbn2 has been classified as Red List (Low Evidence).
Bleeding and Platelet Disorders v0.16 FBN2 Zornitza Stark Phenotypes for gene: FBN2 were changed from to Contractural arachnodactyly, congenital 121050; Macular degeneration, early-onset 616118
Bleeding and Platelet Disorders v0.15 FBN2 Zornitza Stark Mode of inheritance for gene: FBN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.14 FBN2 Zornitza Stark Classified gene: FBN2 as Red List (low evidence)
Bleeding and Platelet Disorders v0.14 FBN2 Zornitza Stark Gene: fbn2 has been classified as Red List (Low Evidence).
Bleeding and Platelet Disorders v0.13 FBN2 Zornitza Stark reviewed gene: FBN2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Contractural arachnodactyly, congenital 121050, Macular degeneration, early-onset 616118; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v0.31 FBN2 Zornitza Stark Marked gene: FBN2 as ready
Arthrogryposis v0.31 FBN2 Zornitza Stark Gene: fbn2 has been classified as Green List (High Evidence).
Arthrogryposis v0.31 FBN2 Zornitza Stark Phenotypes for gene: FBN2 were changed from to Contractural arachnodactyly, congenital, MIM# 121050
Arthrogryposis v0.30 FBN2 Zornitza Stark Mode of inheritance for gene: FBN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v0.29 FBN2 Zornitza Stark reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Contractural arachnodactyly, congenital, MIM# 121050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Aortopathy_Connective Tissue Disorders v0.13 FBN2 Zornitza Stark Marked gene: FBN2 as ready
Aortopathy_Connective Tissue Disorders v0.13 FBN2 Zornitza Stark Gene: fbn2 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v0.13 FBN2 Zornitza Stark Phenotypes for gene: FBN2 were changed from to Contractural arachnodactyly, congenital, MIM# 121050
Aortopathy_Connective Tissue Disorders v0.12 FBN2 Zornitza Stark Mode of inheritance for gene: FBN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Aortopathy_Connective Tissue Disorders v0.11 FBN2 Zornitza Stark edited their review of gene: FBN2: Changed phenotypes: Contractural arachnodactyly, congenital, MIM# 121050
Aortopathy_Connective Tissue Disorders v0.11 FBN2 Zornitza Stark reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Macular degeneration, early-onset, MIM# 616118; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1850 FBN2 Zornitza Stark Marked gene: FBN2 as ready
Mendeliome v0.1850 FBN2 Zornitza Stark Added comment: Comment when marking as ready: The gene-disease association with Contractual arachnodactyly is extremely well established. The gene-disease association with macular degeneration much less so. There are ~4 families reported in the literature, and some discussion about whether the contribution of rare FBN2 variants in this context are under a 'monogenic' or 'polygenic' model.
Mendeliome v0.1850 FBN2 Zornitza Stark Gene: fbn2 has been classified as Green List (High Evidence).
Mendeliome v0.1850 FBN2 Zornitza Stark Publications for gene: FBN2 were set to 19473076; 11068201
Mendeliome v0.1849 FBN2 Zornitza Stark Phenotypes for gene: FBN2 were changed from to Contractural arachnodactyly, congenital 121050; Macular degeneration, early-onset 616118
Mendeliome v0.1848 FBN2 Zornitza Stark Publications for gene: FBN2 were set to
Mendeliome v0.1847 FBN2 Zornitza Stark Mode of inheritance for gene: FBN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1846 BTBD7 Elena Savva reviewed gene: BTBD7: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Hereditary Neuropathy v0.21 AIFM1 Zornitza Stark Marked gene: AIFM1 as ready
Hereditary Neuropathy v0.21 AIFM1 Zornitza Stark Gene: aifm1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.21 AIFM1 Zornitza Stark Publications for gene: AIFM1 were set to
Hereditary Neuropathy v0.20 AIFM1 Zornitza Stark reviewed gene: AIFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 3856385, 22019070, 26173962, 25583628; Phenotypes: Combined oxidative phosphorylation deficiency 6, Cowchock syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary Neuropathy v0.20 AGXT Zornitza Stark Marked gene: AGXT as ready
Hereditary Neuropathy v0.20 AGXT Zornitza Stark Gene: agxt has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.20 AGXT Zornitza Stark Classified gene: AGXT as Green List (high evidence)
Hereditary Neuropathy v0.20 AGXT Zornitza Stark Gene: agxt has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.19 AGXT Zornitza Stark gene: AGXT was added
gene: AGXT was added to Hereditary Neuropathy - complex. Sources: NHS GMS
Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGXT were set to Hyperoxaluria, primary, type 1, MIM#259900
Review for gene: AGXT was set to GREEN
Added comment: Multi-system oxalate deposition including leading to neuropathy.
Sources: NHS GMS
Mendeliome v0.1846 AGTPBP1 Zornitza Stark Marked gene: AGTPBP1 as ready
Mendeliome v0.1846 AGTPBP1 Zornitza Stark Gene: agtpbp1 has been classified as Green List (High Evidence).
Mendeliome v0.1846 AGTPBP1 Zornitza Stark Classified gene: AGTPBP1 as Green List (high evidence)
Mendeliome v0.1846 AGTPBP1 Zornitza Stark Gene: agtpbp1 has been classified as Green List (High Evidence).
Mendeliome v0.1845 AGTPBP1 Zornitza Stark gene: AGTPBP1 was added
gene: AGTPBP1 was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: AGTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGTPBP1 were set to 30420557
Phenotypes for gene: AGTPBP1 were set to Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy; Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276
Review for gene: AGTPBP1 was set to GREEN
Added comment: Thirteen individuals with bi-allelic variants in this gene, complex neurological phenotype of dev delay/ID, cerebellar atrophy and neuropathy, severe progressive course in six.
Sources: NHS GMS
Intellectual disability syndromic and non-syndromic v0.2492 AGTPBP1 Zornitza Stark Marked gene: AGTPBP1 as ready
Intellectual disability syndromic and non-syndromic v0.2492 AGTPBP1 Zornitza Stark Gene: agtpbp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2492 AGTPBP1 Zornitza Stark Classified gene: AGTPBP1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2492 AGTPBP1 Zornitza Stark Gene: agtpbp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2491 AGTPBP1 Zornitza Stark gene: AGTPBP1 was added
gene: AGTPBP1 was added to Intellectual disability syndromic and non-syndromic. Sources: NHS GMS
Mode of inheritance for gene: AGTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGTPBP1 were set to 30420557
Phenotypes for gene: AGTPBP1 were set to Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy; Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276
Review for gene: AGTPBP1 was set to GREEN
Added comment: Thirteen individuals reported, clinical presentation was with developmental delay, though six went on to have a progressive neurological course. Other features include cerebellar atrophy and neuropathy.
Sources: NHS GMS
Regression v0.101 AGTPBP1 Zornitza Stark Marked gene: AGTPBP1 as ready
Regression v0.101 AGTPBP1 Zornitza Stark Gene: agtpbp1 has been classified as Green List (High Evidence).
Regression v0.101 AGTPBP1 Zornitza Stark Classified gene: AGTPBP1 as Green List (high evidence)
Regression v0.101 AGTPBP1 Zornitza Stark Gene: agtpbp1 has been classified as Green List (High Evidence).
Regression v0.100 AGTPBP1 Zornitza Stark gene: AGTPBP1 was added
gene: AGTPBP1 was added to Regression. Sources: NHS GMS
Mode of inheritance for gene: AGTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGTPBP1 were set to 30420557
Phenotypes for gene: AGTPBP1 were set to Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy; Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276
Review for gene: AGTPBP1 was set to GREEN
Added comment: Thirteen individuals with bi-allelic variants in this gene, six of those had a progressive course.
Sources: NHS GMS
Hereditary Neuropathy v0.18 AGTPBP1 Zornitza Stark Marked gene: AGTPBP1 as ready
Hereditary Neuropathy v0.18 AGTPBP1 Zornitza Stark Gene: agtpbp1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.18 AGTPBP1 Zornitza Stark Classified gene: AGTPBP1 as Green List (high evidence)
Hereditary Neuropathy v0.18 AGTPBP1 Zornitza Stark Gene: agtpbp1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.17 AGTPBP1 Zornitza Stark gene: AGTPBP1 was added
gene: AGTPBP1 was added to Hereditary Neuropathy - complex. Sources: NHS GMS
Mode of inheritance for gene: AGTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGTPBP1 were set to 30420557
Phenotypes for gene: AGTPBP1 were set to Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy; Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276
Review for gene: AGTPBP1 was set to GREEN
Added comment: Thirteen individuals with bi-allelic variants in this gene, neuropathy is a major feature.
Sources: NHS GMS
Hereditary Neuropathy v0.16 AAAS Zornitza Stark Marked gene: AAAS as ready
Hereditary Neuropathy v0.16 AAAS Zornitza Stark Gene: aaas has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.16 AAAS Zornitza Stark Phenotypes for gene: AAAS were changed from HMSN; Glucocorticoid deficiency with achalasia to HMSN; Glucocorticoid deficiency with achalasia; Achalasia-addisonianism-alacrimia syndrome, MIM# 231550
Hereditary Neuropathy v0.15 AAAS Zornitza Stark reviewed gene: AAAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Achalasia-addisonianism-alacrimia syndrome, MIM# 231550; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.2490 ADGRG6 Zornitza Stark reviewed gene: ADGRG6: Rating: RED; Mode of pathogenicity: None; Publications: 30549416, 26004201; Phenotypes: Lethal congenital contracture syndrome 9, OMIM #616503; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1844 ADGRG6 Zornitza Stark Publications for gene: ADGRG6 were set to 30549416
Mendeliome v0.1843 ADGRG6 Zornitza Stark Classified gene: ADGRG6 as Green List (high evidence)
Mendeliome v0.1843 ADGRG6 Zornitza Stark Gene: adgrg6 has been classified as Green List (High Evidence).
Mendeliome v0.1842 ADGRG6 Zornitza Stark edited their review of gene: ADGRG6: Added comment: Three families reported originally with severe prenatal-onset arthrogryposis (PMID: 26004201), one family with more complex neurological phenotype (PMID:30549416).; Changed rating: GREEN; Changed publications: 30549416, 26004201; Changed phenotypes: Lethal congenital contracture syndrome 9, OMIM #616503; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.29 ADGRG6 Zornitza Stark Marked gene: ADGRG6 as ready
Arthrogryposis v0.29 ADGRG6 Zornitza Stark Added comment: Comment when marking as ready: Gene previously known as GPR126.
Arthrogryposis v0.29 ADGRG6 Zornitza Stark Gene: adgrg6 has been classified as Green List (High Evidence).
Arthrogryposis v0.29 ADGRG6 Zornitza Stark Classified gene: ADGRG6 as Green List (high evidence)
Arthrogryposis v0.29 ADGRG6 Zornitza Stark Gene: adgrg6 has been classified as Green List (High Evidence).
Arthrogryposis v0.28 ADGRG6 Zornitza Stark Publications for gene: ADGRG6 were set to 30549416; 26004201
Arthrogryposis v0.27 ADGRG6 Zornitza Stark Publications for gene: ADGRG6 were set to 30549416
Arthrogryposis v0.26 ADGRG6 Zornitza Stark Classified gene: ADGRG6 as Green List (high evidence)
Arthrogryposis v0.26 ADGRG6 Zornitza Stark Gene: adgrg6 has been classified as Green List (High Evidence).
Mendeliome v0.1842 NOS1AP Crystle Lee reviewed gene: NOS1AP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.1842 ARID2 Elena Savva reviewed gene: ARID2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:30838730; Phenotypes: Coffin-Siris syndrome 6; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.1842 DYNC1H1 Elena Savva reviewed gene: DYNC1H1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 25512093, 28196890; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 20, Mental retardation, autosomal dominant 13, Spinal muscular atrophy, lower extremity-predominant 1; Mode of inheritance: None
Mendeliome v0.1842 PQBP1 Elena Savva reviewed gene: PQBP1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID:31840929, 14634649, 20410308; Phenotypes: Renpenning syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Mendeliome v0.1842 CHD3 Elena Savva reviewed gene: CHD3: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID:30397230; Phenotypes: Snijders Blok-Campeau syndrome (618205); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated Cardiomyopathy v0.22 TTN Elena Savva reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25589632, 28045975; Phenotypes: Cardiomyopathy, dilated, 1G, 604145, Cardiomyopathy, familial hypertrophic, 9, 613765, Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807, (LGMDR10), Myopathy, myofibrillar, 9, with early respiratory failure, 603689, Salih myopathy, 611705, Tibial muscular dystrophy, tardive, 600334; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arthrogryposis v0.25 MYH7 Elena Savva reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID 29300372, 30924982, 24714796, 30623132; Phenotypes: Cardiomyopathy, dilated, 1S 613426, Cardiomyopathy, hypertrophic, 1 192600, Laing distal myopathy 160500, Left ventricular noncompaction 5 613426, Myopathy, myosin storage, autosomal dominant 608358, Myopathy, myosin storage, autosomal recessive 255160, Scapuloperoneal syndrome, myopathic type 181430; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1842 DLG3 Elena Savva reviewed gene: DLG3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID 28777483; Phenotypes: Mental retardation, X-linked 90; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1842 FBN2 Elena Savva reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID 19473076, 11068201; Phenotypes: Contractural arachnodactyly, congenital 121050, Macular degeneration, early-onset 616118; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Arthrogryposis v0.25 ADGRG6 Crystle Lee reviewed gene: ADGRG6: Rating: GREEN; Mode of pathogenicity: None; Publications: 26004201; Phenotypes: Lethal congenital contracture syndrome 9 (MIM#616503); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Motor Neurone Disease v0.15 LAS1L Bryony Thompson Deleted their review
Motor Neurone Disease v0.15 IGHMBP2 Bryony Thompson Deleted their review
Motor Neurone Disease v0.15 EXOSC8 Bryony Thompson Deleted their review
Motor Neurone Disease v0.15 DCTN1 Bryony Thompson Deleted their review
Incidentalome v0.16 CCNF Bryony Thompson Classified gene: CCNF as Green List (high evidence)
Incidentalome v0.16 CCNF Bryony Thompson Gene: ccnf has been classified as Green List (High Evidence).
Incidentalome v0.15 CCNF Bryony Thompson gene: CCNF was added
gene: CCNF was added to Incidentalome. Sources: Expert list
Mode of inheritance for gene: CCNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CCNF were set to 27080313; 31577344
Phenotypes for gene: CCNF were set to amyotrophic lateral sclerosis with/without frontotemporal dementia
Review for gene: CCNF was set to GREEN
Added comment: >3 families/cases and supporting functional evidence
Sources: Expert list
Early-onset Dementia v0.44 CCNF Bryony Thompson Marked gene: CCNF as ready
Early-onset Dementia v0.44 CCNF Bryony Thompson Gene: ccnf has been classified as Green List (High Evidence).
Early-onset Dementia v0.44 CCNF Bryony Thompson Classified gene: CCNF as Green List (high evidence)
Early-onset Dementia v0.44 CCNF Bryony Thompson Gene: ccnf has been classified as Green List (High Evidence).
Early-onset Dementia v0.43 CCNF Bryony Thompson gene: CCNF was added
gene: CCNF was added to Early-onset Dementia. Sources: Expert list
Mode of inheritance for gene: CCNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CCNF were set to 27080313
Phenotypes for gene: CCNF were set to amyotrophic lateral sclerosis with/without frontotemporal dementia
Review for gene: CCNF was set to GREEN
Added comment: Four cases, within three families with FTD with/without ALS.
Sources: Expert list
Motor Neurone Disease v0.15 CCNF Bryony Thompson Marked gene: CCNF as ready
Motor Neurone Disease v0.15 CCNF Bryony Thompson Gene: ccnf has been classified as Green List (High Evidence).
Motor Neurone Disease v0.15 CCNF Bryony Thompson Classified gene: CCNF as Green List (high evidence)
Motor Neurone Disease v0.15 CCNF Bryony Thompson Gene: ccnf has been classified as Green List (High Evidence).
Motor Neurone Disease v0.14 CCNF Bryony Thompson gene: CCNF was added
gene: CCNF was added to Motor Neuron Disease. Sources: Expert list
Mode of inheritance for gene: CCNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CCNF were set to 29102476; 31577344; 27080313; 28105640; 31445393; 28852778
Phenotypes for gene: CCNF were set to amyotrophic lateral sclerosis with/without frontotemporal dementia
Review for gene: CCNF was set to GREEN
Added comment: >3 cases/families and supporting functional evidence
Sources: Expert list
Incidentalome v0.14 ANXA11 Bryony Thompson Classified gene: ANXA11 as Green List (high evidence)
Incidentalome v0.14 ANXA11 Bryony Thompson Gene: anxa11 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.13 ASCC1 Bryony Thompson Deleted their review
Incidentalome v0.13 ANXA11 Bryony Thompson gene: ANXA11 was added
gene: ANXA11 was added to Incidentalome. Sources: Expert list
Mode of inheritance for gene: ANXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANXA11 were set to 28469040; 29845112; 30109997
Phenotypes for gene: ANXA11 were set to Amytrophic lateral sclerosis 23 MIM#617839
Review for gene: ANXA11 was set to GREEN
Added comment: 4 different missense variants in 10 patients from 7 unrelated families with amyotrophic lateral sclerosis and functional assays supporting association.
Sources: Expert list
Motor Neurone Disease v0.13 ANXA11 Bryony Thompson Classified gene: ANXA11 as Green List (high evidence)
Motor Neurone Disease v0.13 ANXA11 Bryony Thompson Gene: anxa11 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.27 Bryony Thompson Panel name changed from Early onset Parkinson disease to Early-onset Parkinson disease
Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Royal Melbourne Hospital
Early-onset Parkinson disease v0.26 VPS13C Bryony Thompson Marked gene: VPS13C as ready
Early-onset Parkinson disease v0.26 VPS13C Bryony Thompson Gene: vps13c has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.26 VPS13C Bryony Thompson Classified gene: VPS13C as Green List (high evidence)
Early-onset Parkinson disease v0.26 VPS13C Bryony Thompson Gene: vps13c has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.25 VPS13C Bryony Thompson gene: VPS13C was added
gene: VPS13C was added to Early onset Parkinson disease. Sources: Expert list
Mode of inheritance for gene: VPS13C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS13C were set to 26942284; 30452786; 28862745
Phenotypes for gene: VPS13C were set to Parkinson disease 23, autosomal recessive, early onset MIM#616840
Review for gene: VPS13C was set to GREEN
Added comment: >3 cases with biallelic variants.
Sources: Expert list
Early-onset Parkinson disease v0.24 TWNK Bryony Thompson Mode of inheritance for gene: TWNK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Parkinson disease v0.23 TWNK Bryony Thompson Marked gene: TWNK as ready
Early-onset Parkinson disease v0.23 TWNK Bryony Thompson Gene: twnk has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.23 TWNK Bryony Thompson reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: None; Publications: 24076137, 22949510, 22580846, 19353676; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MIM#609286; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lymphoedema v0.1 CHD7 Zornitza Stark Marked gene: CHD7 as ready
Lymphoedema v0.1 CHD7 Zornitza Stark Gene: chd7 has been classified as Red List (Low Evidence).
Lymphoedema v0.1 CHD7 Zornitza Stark Classified gene: CHD7 as Red List (low evidence)
Lymphoedema v0.1 CHD7 Zornitza Stark Gene: chd7 has been classified as Red List (Low Evidence).
Lymphoedema v0.0 CHD7 Zornitza Stark reviewed gene: CHD7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: CHARGE syndrome, MIM# 214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2490 NAA15 Ee Ming Wong reviewed gene: NAA15: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31127942; Phenotypes: Mental retardation, autosomal dominant 50, 617787 (3), NAA15-related syndrome (PMID: 31127942); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.2490 NR2F2 Sue White Classified gene: NR2F2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2490 NR2F2 Sue White Gene: nr2f2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2489 NR2F2 Sue White gene: NR2F2 was added
gene: NR2F2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: NR2F2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NR2F2 were set to 29478779; 29663647
Phenotypes for gene: NR2F2 were set to mild intellectual disability; congenital heart disease; disorder of sexual differentiation; dysmorphic features
Penetrance for gene: NR2F2 were set to Complete
Review for gene: NR2F2 was set to AMBER
Added comment: Established gene for congenital heart disease and DSD and emerging gene for ID. 2 unrelated individuals published with mild or borderline ID, dysmorphism and de novo truncating/missense variants.
Sources: Literature
Regression v0.99 EIF2AK2 Zornitza Stark Marked gene: EIF2AK2 as ready
Regression v0.99 EIF2AK2 Zornitza Stark Gene: eif2ak2 has been classified as Green List (High Evidence).
Regression v0.99 EIF2AK2 Zornitza Stark Classified gene: EIF2AK2 as Green List (high evidence)
Regression v0.99 EIF2AK2 Zornitza Stark Gene: eif2ak2 has been classified as Green List (High Evidence).
Regression v0.98 EIF2AK2 Zornitza Stark gene: EIF2AK2 was added
gene: EIF2AK2 was added to Regression. Sources: Literature
Mode of inheritance for gene: EIF2AK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EIF2AK2 were set to 32197074
Phenotypes for gene: EIF2AK2 were set to Intellectual disability; white matter abnormalities; ataxia; regression with febrile illness
Review for gene: EIF2AK2 was set to GREEN
Added comment: Eight individuals with de novo variants and complex neurodevelopmental phenotype.
Sources: Literature
Regression v0.97 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Mendeliome v0.1842 EIF2AK2 Zornitza Stark Marked gene: EIF2AK2 as ready
Mendeliome v0.1842 EIF2AK2 Zornitza Stark Gene: eif2ak2 has been classified as Green List (High Evidence).
Mendeliome v0.1842 EIF2AK2 Zornitza Stark Classified gene: EIF2AK2 as Green List (high evidence)
Mendeliome v0.1842 EIF2AK2 Zornitza Stark Gene: eif2ak2 has been classified as Green List (High Evidence).
Mendeliome v0.1841 EIF2AK2 Zornitza Stark gene: EIF2AK2 was added
gene: EIF2AK2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: EIF2AK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EIF2AK2 were set to 32197074
Phenotypes for gene: EIF2AK2 were set to Intellectual disability; white matter abnormalities; ataxia; regression with febrile illness
Review for gene: EIF2AK2 was set to GREEN
Added comment: Eight individuals with de novo variants and complex neurodevelopmental phenotype.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2488 EIF2AK2 Zornitza Stark Classified gene: EIF2AK2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2488 EIF2AK2 Zornitza Stark Gene: eif2ak2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2487 EIF2AK2 Zornitza Stark gene: EIF2AK2 was added
gene: EIF2AK2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: EIF2AK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EIF2AK2 were set to 32197074
Phenotypes for gene: EIF2AK2 were set to Intellectual disability; white matter abnormalities; ataxia; regression with febrile illness
Review for gene: EIF2AK2 was set to GREEN
Added comment: Eight individuals with de novo variants and complex neurodevelopmental phenotype.
Sources: Literature
Mendeliome v0.1840 EIF2AK1 Zornitza Stark Marked gene: EIF2AK1 as ready
Mendeliome v0.1840 EIF2AK1 Zornitza Stark Gene: eif2ak1 has been classified as Red List (Low Evidence).
Mendeliome v0.1840 EIF2AK1 Zornitza Stark gene: EIF2AK1 was added
gene: EIF2AK1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: EIF2AK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EIF2AK1 were set to 32197074
Phenotypes for gene: EIF2AK1 were set to Intellectual disability; white matter abnormalities
Review for gene: EIF2AK1 was set to RED
Added comment: Single individual reported with de novo variant in this gene.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2486 EIF2AK1 Zornitza Stark Marked gene: EIF2AK1 as ready
Intellectual disability syndromic and non-syndromic v0.2486 EIF2AK1 Zornitza Stark Gene: eif2ak1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2486 EIF2AK1 Zornitza Stark gene: EIF2AK1 was added
gene: EIF2AK1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: EIF2AK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EIF2AK1 were set to 32197074
Phenotypes for gene: EIF2AK1 were set to Intellectual disability; white matter abnormalities
Review for gene: EIF2AK1 was set to RED
Added comment: Single individual reported with de novo variant in this gene.
Sources: Literature
Mendeliome v0.1839 NOVA2 Zornitza Stark Marked gene: NOVA2 as ready
Mendeliome v0.1839 NOVA2 Zornitza Stark Gene: nova2 has been classified as Green List (High Evidence).
Mendeliome v0.1839 NOVA2 Zornitza Stark Classified gene: NOVA2 as Green List (high evidence)
Mendeliome v0.1839 NOVA2 Zornitza Stark Gene: nova2 has been classified as Green List (High Evidence).
Mendeliome v0.1838 NOVA2 Zornitza Stark gene: NOVA2 was added
gene: NOVA2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NOVA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NOVA2 were set to 32197073
Phenotypes for gene: NOVA2 were set to Intellectual disability; autism; hypotonia; spasticity; ataxia
Mode of pathogenicity for gene: NOVA2 was set to Other
Review for gene: NOVA2 was set to GREEN
Added comment: Six individuals with de novo frameshift variants resulting in C-terminal extension suggesting partial LoF as mechanism.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2485 NOVA2 Zornitza Stark Marked gene: NOVA2 as ready
Intellectual disability syndromic and non-syndromic v0.2485 NOVA2 Zornitza Stark Gene: nova2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2485 NOVA2 Zornitza Stark Classified gene: NOVA2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2485 NOVA2 Zornitza Stark Gene: nova2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2484 NOVA2 Zornitza Stark gene: NOVA2 was added
gene: NOVA2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: NOVA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NOVA2 were set to 32197073
Phenotypes for gene: NOVA2 were set to Intellectual disability; autism; hypotonia; spasticity; ataxia
Mode of pathogenicity for gene: NOVA2 was set to Other
Review for gene: NOVA2 was set to GREEN
Added comment: Six individuals with de novo frameshift variants resulting in C-terminal extension suggesting partial LoF as mechanism.
Sources: Literature
Early-onset Parkinson disease v0.23 PTS Bryony Thompson Mode of inheritance for gene: PTS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Early-onset Parkinson disease v0.22 PTS Bryony Thompson Marked gene: PTS as ready
Early-onset Parkinson disease v0.22 PTS Bryony Thompson Gene: pts has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.22 PTS Bryony Thompson reviewed gene: PTS: Rating: GREEN; Mode of pathogenicity: None; Publications: 11388593, 27562098; Phenotypes: Hyperphenylalaninemia, BH4-deficient, A MIM#261640; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Parkinson disease v0.22 PTRHD1 Bryony Thompson Marked gene: PTRHD1 as ready
Early-onset Parkinson disease v0.22 PTRHD1 Bryony Thompson Gene: ptrhd1 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.22 PTRHD1 Bryony Thompson Classified gene: PTRHD1 as Green List (high evidence)
Early-onset Parkinson disease v0.22 PTRHD1 Bryony Thompson Gene: ptrhd1 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.21 PTRHD1 Bryony Thompson gene: PTRHD1 was added
gene: PTRHD1 was added to Early onset Parkinson disease. Sources: Expert list
Mode of inheritance for gene: PTRHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTRHD1 were set to 27753167; 27134041; 30398675; 29143421
Phenotypes for gene: PTRHD1 were set to early-onset parkinsonism; intellectual disability
Review for gene: PTRHD1 was set to GREEN
Added comment: Homozygous variants segregate in three unrelated families from Iran and South Africa. No functional assays conducted.
Sources: Expert list
Early-onset Parkinson disease v0.20 KIF5A Bryony Thompson Marked gene: KIF5A as ready
Early-onset Parkinson disease v0.20 KIF5A Bryony Thompson Gene: kif5a has been classified as Amber List (Moderate Evidence).
Early-onset Parkinson disease v0.20 KIF5A Bryony Thompson Classified gene: KIF5A as Amber List (moderate evidence)
Early-onset Parkinson disease v0.20 KIF5A Bryony Thompson Gene: kif5a has been classified as Amber List (Moderate Evidence).
Early-onset Parkinson disease v0.19 KIF5A Bryony Thompson reviewed gene: KIF5A: Rating: AMBER; Mode of pathogenicity: None; Publications: 18853458; Phenotypes: Spastic paraplegia 10, autosomal dominant MIM#604187; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Parkinson disease v0.19 C9orf72 Bryony Thompson Classified gene: C9orf72 as Red List (low evidence)
Early-onset Parkinson disease v0.19 C9orf72 Bryony Thompson Added comment: Comment on list classification: A repeat expansion is the cause of disease for this gene, which is currently not detectable by NGS.
Early-onset Parkinson disease v0.19 C9orf72 Bryony Thompson Gene: c9orf72 has been classified as Red List (Low Evidence).
Early-onset Parkinson disease v0.18 C9orf72 Bryony Thompson changed review comment from: Comment on list classification: A repeat expansion is the cause of disease for this gene, which is currently not detectable by NGS.; to: Parkinsonism is a common feature of the condition. A repeat expansion is the cause of disease for this gene.
Early-onset Parkinson disease v0.18 C9orf72 Bryony Thompson changed review comment from: Comment on list classification: A repeat expansion is the cause of disease for this gene, which is currently not detectable by NGS.; to: Comment on list classification: A repeat expansion is the cause of disease for this gene, which is currently not detectable by NGS.
Early-onset Parkinson disease v0.18 C9orf72 Bryony Thompson edited their review of gene: C9orf72: Changed rating: GREEN; Changed publications: 31779815; Changed phenotypes: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Parkinson disease v0.18 HTT Bryony Thompson Marked gene: HTT as ready
Early-onset Parkinson disease v0.18 HTT Bryony Thompson Gene: htt has been classified as Red List (Low Evidence).
Early-onset Parkinson disease v0.18 HTT Bryony Thompson Classified gene: HTT as Red List (low evidence)
Early-onset Parkinson disease v0.18 HTT Bryony Thompson Added comment: Comment on list classification: Parkinsonism is a feature of Huntingtons. This repeat expansion is not detectable by current NGS technology.
Early-onset Parkinson disease v0.18 HTT Bryony Thompson Gene: htt has been classified as Red List (Low Evidence).
Early-onset Parkinson disease v0.17 HTT Bryony Thompson Tag STR tag was added to gene: HTT.
Early-onset Parkinson disease v0.17 HTT Bryony Thompson reviewed gene: HTT: Rating: GREEN; Mode of pathogenicity: None; Publications: 26740508, 27329733, 31800013; Phenotypes: Lopes-Maciel-Rodan syndrome MIM#617435, Huntington disease MIM#143100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.640 NRROS Zornitza Stark Marked gene: NRROS as ready
Genetic Epilepsy v0.640 NRROS Zornitza Stark Gene: nrros has been classified as Green List (High Evidence).
Genetic Epilepsy v0.640 NRROS Zornitza Stark Classified gene: NRROS as Green List (high evidence)
Genetic Epilepsy v0.640 NRROS Zornitza Stark Gene: nrros has been classified as Green List (High Evidence).
Genetic Epilepsy v0.639 NRROS Zornitza Stark reviewed gene: NRROS: Rating: GREEN; Mode of pathogenicity: None; Publications: 32100099, 32197075; Phenotypes: neurodegeneration, intracranial calcification, epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v0.16 NRROS Zornitza Stark Marked gene: NRROS as ready
Brain Calcification v0.16 NRROS Zornitza Stark Gene: nrros has been classified as Green List (High Evidence).
Brain Calcification v0.16 NRROS Zornitza Stark Classified gene: NRROS as Green List (high evidence)
Brain Calcification v0.16 NRROS Zornitza Stark Gene: nrros has been classified as Green List (High Evidence).
Brain Calcification v0.15 NRROS Zornitza Stark gene: NRROS was added
gene: NRROS was added to Brain Calcification. Sources: Literature
Mode of inheritance for gene: NRROS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NRROS were set to 32100099; 32197075
Phenotypes for gene: NRROS were set to neurodegeneration; intracranial calcification; epilepsy
Review for gene: NRROS was set to GREEN
Added comment: Normal development or mild developmental delay until onset of regression around age of 1 concurrent with epilepsy
Biallelic LOF mutations with functional evidence of pathogenicity reported in 6 unrelated families.
Sources: Literature
Early-onset Parkinson disease v0.17 FMR1 Bryony Thompson Marked gene: FMR1 as ready
Early-onset Parkinson disease v0.17 FMR1 Bryony Thompson Gene: fmr1 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.17 FMR1 Bryony Thompson Tag STR tag was added to gene: FMR1.
Early-onset Parkinson disease v0.17 FMR1 Bryony Thompson reviewed gene: FMR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27340021, 28176767; Phenotypes: Fragile X tremor/ataxia syndrome MIM#300623, Fragile X syndrome MIM#300624; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.1837 GNB2 Sue White Classified gene: GNB2 as Amber List (moderate evidence)
Mendeliome v0.1837 GNB2 Sue White Gene: gnb2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1836 GNB2 Sue White gene: GNB2 was added
gene: GNB2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNB2 were set to 31698099
Phenotypes for gene: GNB2 were set to intellectual disability; dysmorphic features
Penetrance for gene: GNB2 were set to Complete
Review for gene: GNB2 was set to AMBER
Added comment: single report of patient with de novo missense variant in GNB2 and intellectual disability. Emerging evidence of other de no missense variants in GNB2 and ID
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2483 GNB2 Sue White Classified gene: GNB2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2483 GNB2 Sue White Gene: gnb2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2482 GNB2 Sue White gene: GNB2 was added
gene: GNB2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: GNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNB2 were set to 31698099
Phenotypes for gene: GNB2 were set to intellectual disability; dysmorphic features
Review for gene: GNB2 was set to AMBER
Added comment: emerging evidence of de novo missense variants in patients with intellectual disability
Sources: Literature
Mendeliome v0.1835 NRROS Sue White Classified gene: NRROS as Green List (high evidence)
Mendeliome v0.1835 NRROS Sue White Gene: nrros has been classified as Green List (High Evidence).
Mendeliome v0.1834 NRROS Sue White gene: NRROS was added
gene: NRROS was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NRROS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NRROS were set to 32100099; 32197075
Phenotypes for gene: NRROS were set to neurodegeneration; intracranial calcification; epilepsy
Penetrance for gene: NRROS were set to Complete
Review for gene: NRROS was set to GREEN
Added comment: normal development or mild developmental delay until onset of regression around age of 1 concurrent with epilepsy
biallelic LOF mutations with functional evidence of pathogenicity
Sources: Literature
Genetic Epilepsy v0.639 NRROS Sue White gene: NRROS was added
gene: NRROS was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: NRROS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NRROS were set to 32100099; 32197075
Phenotypes for gene: NRROS were set to neurodegeneration; intracranial calcification; epilepsy
Penetrance for gene: NRROS were set to Complete
Regression v0.96 NRROS Sue White Classified gene: NRROS as Green List (high evidence)
Regression v0.96 NRROS Sue White Gene: nrros has been classified as Green List (High Evidence).
Regression v0.95 NRROS Sue White gene: NRROS was added
gene: NRROS was added to Regression. Sources: Literature
Mode of inheritance for gene: NRROS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NRROS were set to 32100099
Phenotypes for gene: NRROS were set to neurodegeneration; intracranial calcification; epilepsy
Penetrance for gene: NRROS were set to Complete
Review for gene: NRROS was set to GREEN
Added comment: Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2481 NRROS Sue White Classified gene: NRROS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2481 NRROS Sue White Gene: nrros has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2480 NRROS Sue White gene: NRROS was added
gene: NRROS was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: NRROS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NRROS were set to 32197075; 32100099
Phenotypes for gene: NRROS were set to neurodegeneration; intracranial calcification; epilepsy
Penetrance for gene: NRROS were set to Complete
Review for gene: NRROS was set to GREEN
Added comment: Sources: Literature
Early-onset Parkinson disease v0.17 TMEM230 Bryony Thompson gene: TMEM230 was added
gene: TMEM230 was added to Early onset Parkinson disease. Sources: Expert list
Mode of inheritance for gene: TMEM230 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TMEM230 were set to 30804554; 27270108; 28115417; 28017548; 30804555; 30804556; 31323517
Phenotypes for gene: TMEM230 were set to Parkinson disease 21, MIM#616361
Review for gene: TMEM230 was set to AMBER
Added comment: A single family segregating a heterozygous missense (p.Arg141Leu) and supporting functional evidence. However, another group found a DNAJC13 variant in the same family also with supporting functional evidence. A stoploss was also identified in 9 Chinese Parkinson disease probands, however it was identified homozygous in 7 of these with no difference in the severity of phenotype. A similar stop loss was identified in a North American PD case. Another missense was identified in an apparently sporadic PD case (p.Tyr92Cys), but was also present in the unaffected mother (age 57 yrs). Another rare missense has been reported in a case with familial PD. The missense reported in a family from Southern Italy is too common in gnomAD v2.1 for a dominant disease (PMID: 31323517 - p.Ile125Met).
Sources: Expert list
Autism v0.80 CNOT3 Zornitza Stark Marked gene: CNOT3 as ready
Autism v0.80 CNOT3 Zornitza Stark Gene: cnot3 has been classified as Green List (High Evidence).
Autism v0.80 CNOT3 Zornitza Stark Phenotypes for gene: CNOT3 were changed from to Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, MIM# 618672
Autism v0.79 CNOT3 Zornitza Stark Publications for gene: CNOT3 were set to
Autism v0.78 CNOT3 Zornitza Stark Mode of inheritance for gene: CNOT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.77 CNOT3 Zornitza Stark reviewed gene: CNOT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31201375; Phenotypes: Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, MIM# 618672; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1833 CNOT3 Zornitza Stark Marked gene: CNOT3 as ready
Mendeliome v0.1833 CNOT3 Zornitza Stark Gene: cnot3 has been classified as Green List (High Evidence).
Mendeliome v0.1833 CNOT3 Zornitza Stark Phenotypes for gene: CNOT3 were changed from to Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, MIM# 618672
Intellectual disability syndromic and non-syndromic v0.2479 CNOT3 Zornitza Stark Marked gene: CNOT3 as ready
Intellectual disability syndromic and non-syndromic v0.2479 CNOT3 Zornitza Stark Added comment: Comment when marking as ready: 16 unrelated individuals reported.
Intellectual disability syndromic and non-syndromic v0.2479 CNOT3 Zornitza Stark Gene: cnot3 has been classified as Green List (High Evidence).
Mendeliome v0.1832 CNOT3 Zornitza Stark Publications for gene: CNOT3 were set to
Mendeliome v0.1831 CNOT3 Zornitza Stark Mode of inheritance for gene: CNOT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1830 CNOT3 Zornitza Stark reviewed gene: CNOT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31201375; Phenotypes: Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, MIM# 618672; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2479 CNOT3 Zornitza Stark Marked gene: CNOT3 as ready
Intellectual disability syndromic and non-syndromic v0.2479 CNOT3 Zornitza Stark Gene: cnot3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2479 CNOT3 Zornitza Stark Phenotypes for gene: CNOT3 were changed from to Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 618672
Intellectual disability syndromic and non-syndromic v0.2478 CNOT3 Zornitza Stark Publications for gene: CNOT3 were set to
Intellectual disability syndromic and non-syndromic v0.2477 CNOT3 Zornitza Stark Mode of inheritance for gene: CNOT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2476 CNOT3 Teresa Zhao reviewed gene: CNOT3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31201375; Phenotypes: Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 618672; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Parkinson disease v0.16 DNAJC13 Bryony Thompson Marked gene: DNAJC13 as ready
Early-onset Parkinson disease v0.16 DNAJC13 Bryony Thompson Gene: dnajc13 has been classified as Red List (Low Evidence).
Early-onset Parkinson disease v0.16 DNAJC13 Bryony Thompson edited their review of gene: DNAJC13: Changed phenotypes: Parkinson disease 21, MIM#616361
Early-onset Parkinson disease v0.16 DNAJC13 Bryony Thompson gene: DNAJC13 was added
gene: DNAJC13 was added to Early onset Parkinson disease. Sources: Expert list
Mode of inheritance for gene: DNAJC13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DNAJC13 were set to 30788857; 24218364; 29309590; 31082451; 29887357; 27270108
Review for gene: DNAJC13 was set to AMBER
Added comment: A single family segregating a heterozygous missense (p.Asn855Ser) and supporting functional evidence. However, another group found a TMEM230 variant in the same family also with supporting functional evidence. Two missense reported in two other studies (PMID: 30788857 - p.Arg1382His; PMID: 29887357 - p.Arg903Lys) are more common in gnomAD v2.1 than would be expected for a dominant disorder.
Sources: Expert list
Early-onset Parkinson disease v0.15 DCAF17 Bryony Thompson Marked gene: DCAF17 as ready
Early-onset Parkinson disease v0.15 DCAF17 Bryony Thompson Gene: dcaf17 has been classified as Red List (Low Evidence).
Early-onset Parkinson disease v0.15 DCAF17 Bryony Thompson Classified gene: DCAF17 as Red List (low evidence)
Early-onset Parkinson disease v0.15 DCAF17 Bryony Thompson Added comment: Comment on list classification: Dystonia rather parkinsonism appears to be a feature of this condition and this gene is one the dystonia panel.
Early-onset Parkinson disease v0.15 DCAF17 Bryony Thompson Gene: dcaf17 has been classified as Red List (Low Evidence).
Early-onset Parkinson disease v0.14 DCAF17 Bryony Thompson reviewed gene: DCAF17: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Woodhouse-Sakati syndrome MIM#241080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Parkinson disease v0.14 ATP7B Bryony Thompson Marked gene: ATP7B as ready
Early-onset Parkinson disease v0.14 ATP7B Bryony Thompson Gene: atp7b has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.14 ATP7B Bryony Thompson Classified gene: ATP7B as Green List (high evidence)
Early-onset Parkinson disease v0.14 ATP7B Bryony Thompson Gene: atp7b has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.13 ATP7B Bryony Thompson gene: ATP7B was added
gene: ATP7B was added to Early onset Parkinson disease. Sources: Expert list
Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP7B were set to 17435591
Phenotypes for gene: ATP7B were set to Wilson disease MIM#277900
Review for gene: ATP7B was set to GREEN
Added comment: Parkinsonism is a prominent neurological feature of Wilson disease.
Sources: Expert list
Early-onset Parkinson disease v0.12 CP Bryony Thompson reviewed gene: CP: Rating: GREEN; Mode of pathogenicity: None; Publications: 28012953; Phenotypes: Hemosiderosis, systemic, due to aceruloplasminemia MIM#604290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Parkinson disease v0.12 CLN3 Bryony Thompson reviewed gene: CLN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19489875, 11342698; Phenotypes: Ceroid lipofuscinosis, neuronal, 3 MIM#204200; Mode of inheritance: None
Early-onset Parkinson disease v0.12 CHCHD2 Bryony Thompson edited their review of gene: CHCHD2: Changed publications: 32068847, 25662902, 31600778, 26705026
Incidentalome v0.12 CHCHD2 Bryony Thompson Publications for gene: CHCHD2 were set to 32068847; 25662902; 31600778
Early-onset Parkinson disease v0.12 CHCHD2 Bryony Thompson Publications for gene: CHCHD2 were set to 32068847; 25662902; 31600778
Incidentalome v0.11 CHCHD2 Bryony Thompson Classified gene: CHCHD2 as Green List (high evidence)
Incidentalome v0.11 CHCHD2 Bryony Thompson Gene: chchd2 has been classified as Green List (High Evidence).
Incidentalome v0.10 CHCHD2 Bryony Thompson gene: CHCHD2 was added
gene: CHCHD2 was added to Incidentalome. Sources: Expert list
Mode of inheritance for gene: CHCHD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHCHD2 were set to 32068847; 25662902; 31600778
Phenotypes for gene: CHCHD2 were set to Parkinson disease 22, autosomal dominant MIM#616710
Review for gene: CHCHD2 was set to GREEN
Added comment: Adult-onset neurodegenerative disorder. Five families with heterozygous variants, segregation evidence for T61I in multiple families. Supporting functional evidence suggesting mitochondrial dysfunction through the genes role in mitochondrial respiratory function.
Sources: Expert list
Mitochondrial disease v0.322 CHCHD2 Bryony Thompson Classified gene: CHCHD2 as Green List (high evidence)
Mitochondrial disease v0.322 CHCHD2 Bryony Thompson Gene: chchd2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.321 CHCHD2 Bryony Thompson gene: CHCHD2 was added
gene: CHCHD2 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: CHCHD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHCHD2 were set to 32068847; 25662902; 31600778
Phenotypes for gene: CHCHD2 were set to Parkinson disease 22, autosomal dominant MIM#616710
Review for gene: CHCHD2 was set to GREEN
Added comment: Five families with heterozygous variants, segregation evidence for T61I in multiple families. Supporting functional evidence suggesting mitochondrial dysfunction through the genes role in mitochondrial respiratory function.
Sources: Literature
Early-onset Parkinson disease v0.11 CHCHD2 Bryony Thompson Classified gene: CHCHD2 as Green List (high evidence)
Early-onset Parkinson disease v0.11 CHCHD2 Bryony Thompson Gene: chchd2 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.10 CHCHD2 Bryony Thompson gene: CHCHD2 was added
gene: CHCHD2 was added to Early onset Parkinson disease. Sources: Expert list
Mode of inheritance for gene: CHCHD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHCHD2 were set to 32068847; 25662902; 31600778
Phenotypes for gene: CHCHD2 were set to Parkinson disease 22, autosomal dominant MIM#616710
Review for gene: CHCHD2 was set to GREEN
Added comment: Five families with heterozygous variants, segregation evidence for T61I in multiple families. Supporting functional evidence suggesting mitochondrial dysfunction through the genes role in mitochondrial respiratory function.
Sources: Expert list
Early-onset Parkinson disease v0.9 C9orf72 Bryony Thompson Classified gene: C9orf72 as Red List (low evidence)
Early-onset Parkinson disease v0.9 C9orf72 Bryony Thompson Added comment: Comment on list classification: A repeat expansion is the cause of disease for this gene, which is currently not detectable by NGS.
Early-onset Parkinson disease v0.9 C9orf72 Bryony Thompson Gene: c9orf72 has been classified as Red List (Low Evidence).
Early-onset Parkinson disease v0.8 C9orf72 Bryony Thompson Tag STR tag was added to gene: C9orf72.
Early-onset Parkinson disease v0.8 AFG3L2 Bryony Thompson Marked gene: AFG3L2 as ready
Early-onset Parkinson disease v0.8 AFG3L2 Bryony Thompson Gene: afg3l2 has been classified as Red List (Low Evidence).
Early-onset Parkinson disease v0.8 AFG3L2 Bryony Thompson Classified gene: AFG3L2 as Red List (low evidence)
Early-onset Parkinson disease v0.8 AFG3L2 Bryony Thompson Gene: afg3l2 has been classified as Red List (Low Evidence).
Early-onset Parkinson disease v0.7 AFG3L2 Bryony Thompson reviewed gene: AFG3L2: Rating: RED; Mode of pathogenicity: None; Publications: 30252181; Phenotypes: optic atrophy, spastic ataxia, L-dopa-responsive parkinsonism; Mode of inheritance: Unknown
Mendeliome v0.1830 CBS Zornitza Stark Marked gene: CBS as ready
Mendeliome v0.1830 CBS Zornitza Stark Gene: cbs has been classified as Green List (High Evidence).
Mendeliome v0.1830 CBS Zornitza Stark Phenotypes for gene: CBS were changed from to Homocystinuria, B6-responsive and nonresponsive types, 236200; Thrombosis, hyperhomocysteinemic, 236200
Mendeliome v0.1829 CBS Zornitza Stark Publications for gene: CBS were set to
Mendeliome v0.1828 CBS Zornitza Stark Mode of inheritance for gene: CBS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.11 FLNB Zornitza Stark Marked gene: FLNB as ready
Skeletal dysplasia v0.11 FLNB Zornitza Stark Gene: flnb has been classified as Green List (High Evidence).
Skeletal dysplasia v0.11 FLNB Zornitza Stark Publications for gene: FLNB were set to
Skeletal dysplasia v0.10 FLNB Chern Lim reviewed gene: FLNB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22190451, 29566257; Phenotypes: Atelosteogenesis, type I AD MIM#108720, Atelosteogenesis, type III AD MIM#108721, Boomerang dysplasia AD MIM#112310, Larsen syndrome AD MIM#150250, Spondylocarpotarsal synostosis syndrome AR MIM#272460; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinitis pigmentosa v0.18 POC5 Bryony Thompson Marked gene: POC5 as ready
Retinitis pigmentosa v0.18 POC5 Bryony Thompson Gene: poc5 has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa v0.18 POC5 Bryony Thompson Classified gene: POC5 as Amber List (moderate evidence)
Retinitis pigmentosa v0.18 POC5 Bryony Thompson Gene: poc5 has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa v0.17 POC5 Bryony Thompson gene: POC5 was added
gene: POC5 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Expert list
Mode of inheritance for gene: POC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POC5 were set to 29272404
Phenotypes for gene: POC5 were set to retinitis pigmentosa; short stature; microcephaly; recurrent glomerulonephritis
Review for gene: POC5 was set to AMBER
Added comment: One case with a homozygous truncating variant and a supporting zebrafish model.
Sources: Expert list
Syndromic Retinopathy v0.6 POC5 Bryony Thompson Marked gene: POC5 as ready
Syndromic Retinopathy v0.6 POC5 Bryony Thompson Gene: poc5 has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.6 POC5 Bryony Thompson Classified gene: POC5 as Amber List (moderate evidence)
Syndromic Retinopathy v0.6 POC5 Bryony Thompson Gene: poc5 has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.5 POC5 Bryony Thompson reviewed gene: POC5: Rating: AMBER; Mode of pathogenicity: None; Publications: 29272404; Phenotypes: retinitis pigmentosa, short stature, microcephaly, recurrent glomerulonephritis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1827 CBS Kristin Rigbye reviewed gene: CBS: Rating: GREEN; Mode of pathogenicity: None; Publications: 7506602, 10338090; Phenotypes: Homocystinuria, B6-responsive and nonresponsive types, 236200, Thrombosis, hyperhomocysteinemic, 236200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.24 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Cataract v0.60 FOXP3 Zornitza Stark Marked gene: FOXP3 as ready
Cataract v0.60 FOXP3 Zornitza Stark Gene: foxp3 has been classified as Red List (Low Evidence).
Cataract v0.60 FOXP3 Zornitza Stark Phenotypes for gene: FOXP3 were changed from to Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790
Cataract v0.59 FOXP3 Zornitza Stark Mode of inheritance for gene: FOXP3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cataract v0.58 FOXP3 Zornitza Stark Classified gene: FOXP3 as Red List (low evidence)
Cataract v0.58 FOXP3 Zornitza Stark Gene: foxp3 has been classified as Red List (Low Evidence).
Cataract v0.57 GUCY2C Zornitza Stark Marked gene: GUCY2C as ready
Cataract v0.57 GUCY2C Zornitza Stark Gene: gucy2c has been classified as Red List (Low Evidence).
Cataract v0.57 GUCY2C Zornitza Stark Phenotypes for gene: GUCY2C were changed from to Diarrhea 6, 614616; Meconium ileus, 614665
Cataract v0.56 GUCY2C Zornitza Stark Classified gene: GUCY2C as Red List (low evidence)
Cataract v0.56 GUCY2C Zornitza Stark Gene: gucy2c has been classified as Red List (Low Evidence).
Hereditary Neuropathy v0.14 Bryony Thompson Panel name changed from Hereditary Neuropathy - complex_RMH to Hereditary Neuropathy - complex
Panel types changed to Royal Melbourne Hospital; Rare Disease
Hereditary Neuropathy v0.13 PEX12 Bryony Thompson reviewed gene: PEX12: Rating: RED; Mode of pathogenicity: None; Publications: 24627108; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.13 NIPA1 Bryony Thompson reviewed gene: NIPA1: Rating: RED; Mode of pathogenicity: None; Publications: 21419568; Phenotypes: Spastic paraplegia 6, autosomal dominant MIM#600363; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy v0.13 IFRD1 Bryony Thompson reviewed gene: IFRD1: Rating: RED; Mode of pathogenicity: None; Publications: 29362493, 19409521; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1827 HTR3C Zornitza Stark Marked gene: HTR3C as ready
Mendeliome v0.1827 HTR3C Zornitza Stark Added comment: Comment when marking as ready: Agree no evidence for Mendelian gene-disease association currently.
Mendeliome v0.1827 HTR3C Zornitza Stark Gene: htr3c has been classified as Red List (Low Evidence).
Mendeliome v0.1827 HTR3C Zornitza Stark Publications for gene: HTR3C were set to
Mendeliome v0.1826 HTR3C Zornitza Stark Classified gene: HTR3C as Red List (low evidence)
Mendeliome v0.1826 HTR3C Zornitza Stark Gene: htr3c has been classified as Red List (Low Evidence).
Mendeliome v0.1825 ZFP42 Zornitza Stark Marked gene: ZFP42 as ready
Mendeliome v0.1825 ZFP42 Zornitza Stark Gene: zfp42 has been classified as Red List (Low Evidence).
Mendeliome v0.1825 ZFP42 Zornitza Stark Classified gene: ZFP42 as Red List (low evidence)
Mendeliome v0.1825 ZFP42 Zornitza Stark Gene: zfp42 has been classified as Red List (Low Evidence).
Cataract v0.55 CYBA Zornitza Stark Marked gene: CYBA as ready
Cataract v0.55 CYBA Zornitza Stark Gene: cyba has been classified as Red List (Low Evidence).
Cataract v0.55 CYBA Zornitza Stark Phenotypes for gene: CYBA were changed from to Chronic granulomatous disease
Cataract v0.54 GUCY2C Lauren Akesson commented on gene: GUCY2C: Cataract does not appear to be a typical feature in these conditions (OMIM)
Cataract v0.54 CYBA Zornitza Stark Mode of inheritance for gene: CYBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.53 GUCY2C Lauren Akesson edited their review of gene: GUCY2C: Changed rating: RED
Cataract v0.53 CYBA Zornitza Stark Classified gene: CYBA as Red List (low evidence)
Cataract v0.53 CYBA Zornitza Stark Gene: cyba has been classified as Red List (Low Evidence).
Cataract v0.52 GUCY2C Lauren Akesson reviewed gene: GUCY2C: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Diarrhea 6, 614616, Meconium ileus, 614665; Mode of inheritance: None
Cataract v0.52 CYBB Zornitza Stark Marked gene: CYBB as ready
Cataract v0.52 CYBB Zornitza Stark Gene: cybb has been classified as Red List (Low Evidence).
Cataract v0.52 CYBB Zornitza Stark Phenotypes for gene: CYBB were changed from to Chronic granulomatous disease; immunodeficiency 34 with mycobacteriosis
Cataract v0.51 CYBB Zornitza Stark Mode of inheritance for gene: CYBB was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hereditary Neuropathy v0.13 GJB3 Bryony Thompson Marked gene: GJB3 as ready
Hereditary Neuropathy v0.13 GJB3 Bryony Thompson Gene: gjb3 has been classified as Red List (Low Evidence).
Hereditary Neuropathy v0.13 GJB3 Bryony Thompson reviewed gene: GJB3: Rating: RED; Mode of pathogenicity: None; Publications: 11309368, 19755382, 16077902, 17142249, 12165562; Phenotypes: ; Mode of inheritance: None
Cataract v0.50 CYBB Zornitza Stark Classified gene: CYBB as Red List (low evidence)
Cataract v0.50 CYBB Zornitza Stark Gene: cybb has been classified as Red List (Low Evidence).
Cataract v0.49 DCLRE1C Zornitza Stark Marked gene: DCLRE1C as ready
Cataract v0.49 DCLRE1C Zornitza Stark Gene: dclre1c has been classified as Red List (Low Evidence).
Cataract v0.49 DCLRE1C Zornitza Stark Phenotypes for gene: DCLRE1C were changed from to Omenn syndrome 603554; Severe combined immunodeficiency, Athabascan type 602450
Cataract v0.48 DCLRE1C Zornitza Stark Mode of inheritance for gene: DCLRE1C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.47 DCLRE1C Zornitza Stark Classified gene: DCLRE1C as Red List (low evidence)
Cataract v0.47 DCLRE1C Zornitza Stark Gene: dclre1c has been classified as Red List (Low Evidence).
Cataract v0.46 DOCK8 Zornitza Stark Marked gene: DOCK8 as ready
Cataract v0.46 DOCK8 Zornitza Stark Gene: dock8 has been classified as Red List (Low Evidence).
Cataract v0.46 DOCK8 Zornitza Stark Phenotypes for gene: DOCK8 were changed from to Hyper-IgE recurrent infection syndrome 243700
Cataract v0.45 DOCK8 Zornitza Stark Publications for gene: DOCK8 were set to
Cataract v0.44 DOCK8 Zornitza Stark Mode of inheritance for gene: DOCK8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.43 DOCK8 Zornitza Stark Tag SV/CNV tag was added to gene: DOCK8.
Cataract v0.43 DOCK8 Zornitza Stark Classified gene: DOCK8 as Red List (low evidence)
Cataract v0.43 DOCK8 Zornitza Stark Gene: dock8 has been classified as Red List (Low Evidence).
Cataract v0.42 EED Zornitza Stark Marked gene: EED as ready
Cataract v0.42 EED Zornitza Stark Added comment: Comment when marking as ready: Single individual reported, unclear at present whether this a feature of the phenotype or a coincidence.
Cataract v0.42 EED Zornitza Stark Gene: eed has been classified as Red List (Low Evidence).
Cataract v0.42 EED Zornitza Stark Classified gene: EED as Red List (low evidence)
Cataract v0.42 EED Zornitza Stark Gene: eed has been classified as Red List (Low Evidence).
Cataract v0.41 EPCAM Zornitza Stark Marked gene: EPCAM as ready
Cataract v0.41 EPCAM Zornitza Stark Gene: epcam has been classified as Red List (Low Evidence).
Cataract v0.41 EPCAM Zornitza Stark Phenotypes for gene: EPCAM were changed from to Congenital diarrhoea 5 with tufting enteropathy; Lynch syndrome
Cataract v0.40 FOXP3 Lauren Akesson reviewed gene: FOXP3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cataract v0.40 EPCAM Zornitza Stark Publications for gene: EPCAM were set to
Cataract v0.39 EPCAM Zornitza Stark Mode of inheritance for gene: EPCAM was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cataract v0.38 EPCAM Zornitza Stark Classified gene: EPCAM as Red List (low evidence)
Cataract v0.38 EPCAM Zornitza Stark Gene: epcam has been classified as Red List (Low Evidence).
Cataract v0.37 FKRP Zornitza Stark Marked gene: FKRP as ready
Cataract v0.37 FKRP Zornitza Stark Gene: fkrp has been classified as Amber List (Moderate Evidence).
Cataract v0.37 FKRP Zornitza Stark Phenotypes for gene: FKRP were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 5; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation) type B, 5; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 5
Cataract v0.36 FKRP Zornitza Stark Publications for gene: FKRP were set to
Cataract v0.35 FKRP Zornitza Stark Mode of inheritance for gene: FKRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.34 FKRP Zornitza Stark Classified gene: FKRP as Amber List (moderate evidence)
Cataract v0.34 FKRP Zornitza Stark Gene: fkrp has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.13 AMPD2 Bryony Thompson Marked gene: AMPD2 as ready
Hereditary Neuropathy v0.13 AMPD2 Bryony Thompson Gene: ampd2 has been classified as Red List (Low Evidence).
Hereditary Neuropathy v0.13 AMPD2 Bryony Thompson reviewed gene: AMPD2: Rating: RED; Mode of pathogenicity: None; Publications: 27066553; Phenotypes: ; Mode of inheritance: None
Mitochondrial disease v0.319 XPNPEP3 Zornitza Stark Classified gene: XPNPEP3 as Red List (low evidence)
Mitochondrial disease v0.319 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.318 XPNPEP3 Zornitza Stark reviewed gene: XPNPEP3: Rating: RED; Mode of pathogenicity: None; Publications: 20179356; Phenotypes: Nephronophthisis-like nephropathy 1, MIM#613159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.13 Bryony Thompson removed gene:RBM7 from the panel
Hereditary Neuropathy v0.12 PEX10 Bryony Thompson changed review comment from: Three unrelated families/cases reported with axonal motor neuropathy; to: Three unrelated families/cases reported with a complex phenotype including axonal motor neuropathy
Hereditary Neuropathy v0.12 PEX10 Bryony Thompson Marked gene: PEX10 as ready
Hereditary Neuropathy v0.12 PEX10 Bryony Thompson Gene: pex10 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.12 PEX10 Bryony Thompson Classified gene: PEX10 as Green List (high evidence)
Hereditary Neuropathy v0.12 PEX10 Bryony Thompson Gene: pex10 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.11 PEX10 Bryony Thompson reviewed gene: PEX10: Rating: GREEN; Mode of pathogenicity: None; Publications: 27230853, 20695019; Phenotypes: Peroxisome biogenesis disorder 6A (Zellweger) MIM#614870, Peroxisome biogenesis disorder 6B MIM#614871; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.33 FKRP Lauren Akesson reviewed gene: FKRP: Rating: AMBER; Mode of pathogenicity: None; Publications: 30461124, 24139536, 20236121, 15833426; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 5, Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation) type B, 5, Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 5; Mode of inheritance: None
Hereditary Neuropathy v0.11 Bryony Thompson removed gene:PDK3 from the panel
Hereditary Neuropathy v0.10 ASCC1 Bryony Thompson Marked gene: ASCC1 as ready
Hereditary Neuropathy v0.10 ASCC1 Bryony Thompson Gene: ascc1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.10 ASCC1 Bryony Thompson Classified gene: ASCC1 as Green List (high evidence)
Hereditary Neuropathy v0.10 ASCC1 Bryony Thompson Gene: ascc1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.9 ASCC1 Bryony Thompson edited their review of gene: ASCC1: Added comment: >3 cases/families reported with a complex neuropathy phenotype. Onset of disease is prenatal and death occurs in the first days or months of life.; Changed rating: GREEN; Changed publications: 31880396, 30327447, 26924529; Changed phenotypes: Spinal muscular atrophy with congenital bone fractures 2 MIM#616867, dHMN/dSMA; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.9 DEGS1 Bryony Thompson Marked gene: DEGS1 as ready
Hereditary Neuropathy v0.9 DEGS1 Bryony Thompson Gene: degs1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.9 DEGS1 Bryony Thompson Classified gene: DEGS1 as Green List (high evidence)
Hereditary Neuropathy v0.9 DEGS1 Bryony Thompson Added comment: Comment on list classification: Complex phenotype including neuropathy
Hereditary Neuropathy v0.9 DEGS1 Bryony Thompson Gene: degs1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.8 DEGS1 Bryony Thompson Deleted their review
Hereditary Neuropathy v0.7 DEGS1 Bryony Thompson gene: DEGS1 was added
gene: DEGS1 was added to Hereditary Neuropathy - complex_RMH. Sources: Expert list
Mode of inheritance for gene: DEGS1 was set to BIALLELIC, autosomal or pseudoautosomal
Review for gene: DEGS1 was set to GREEN
Added comment: Sources: Expert list
Mendeliome v0.1824 ZFP42 Elena Savva reviewed gene: ZFP42: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Mendeliome v0.1824 SLC25A21 Zornitza Stark Marked gene: SLC25A21 as ready
Mendeliome v0.1824 SLC25A21 Zornitza Stark Gene: slc25a21 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1824 SLC25A21 Zornitza Stark Classified gene: SLC25A21 as Amber List (moderate evidence)
Mendeliome v0.1824 SLC25A21 Zornitza Stark Gene: slc25a21 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1823 HTR3C Elena Savva reviewed gene: HTR3C: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 19035560, 18681779; Phenotypes: ; Mode of inheritance: Unknown
Mendeliome v0.1823 SLC25A21 Zornitza Stark gene: SLC25A21 was added
gene: SLC25A21 was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: SLC25A21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A21 were set to 29517768
Phenotypes for gene: SLC25A21 were set to Mitochondrial DNA depletion syndrome-18, MIM#618811
Review for gene: SLC25A21 was set to AMBER
Added comment: One case with a homozygous variant and functional assays showing mitochondrial dysfunction.
Sources: NHS GMS
Mendeliome v0.1822 SLC25A10 Zornitza Stark Marked gene: SLC25A10 as ready
Mendeliome v0.1822 SLC25A10 Zornitza Stark Gene: slc25a10 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1822 SLC25A10 Zornitza Stark Classified gene: SLC25A10 as Amber List (moderate evidence)
Mendeliome v0.1822 SLC25A10 Zornitza Stark Gene: slc25a10 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1821 SLC25A10 Zornitza Stark gene: SLC25A10 was added
gene: SLC25A10 was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: SLC25A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A10 were set to 29211846
Phenotypes for gene: SLC25A10 were set to Intractable epileptic encephalopathy
Review for gene: SLC25A10 was set to AMBER
Added comment: One case with intractable epileptic encephalopathy with complex I deficiency, with biallelic variants. Yeast SLC25A10 ortholog lack-of-function causes impairment in mitochondrial respiration, reduced mtDNA copy number and oxidative stress vulnerability.
Sources: NHS GMS
Intellectual disability syndromic and non-syndromic v0.2476 QARS Zornitza Stark Marked gene: QARS as ready
Intellectual disability syndromic and non-syndromic v0.2476 QARS Zornitza Stark Gene: qars has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2476 QARS Zornitza Stark Phenotypes for gene: QARS were changed from to Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760
Intellectual disability syndromic and non-syndromic v0.2475 QARS Zornitza Stark Publications for gene: QARS were set to
Intellectual disability syndromic and non-syndromic v0.2474 QARS Zornitza Stark Mode of inheritance for gene: QARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2473 QARS Zornitza Stark reviewed gene: QARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 28620870, 25471517, 25432320, 25041233, 24656866, 32042906; Phenotypes: Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.638 QARS Zornitza Stark Marked gene: QARS as ready
Genetic Epilepsy v0.638 QARS Zornitza Stark Gene: qars has been classified as Green List (High Evidence).
Genetic Epilepsy v0.638 QARS Zornitza Stark Phenotypes for gene: QARS were changed from to Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760
Genetic Epilepsy v0.637 QARS Zornitza Stark Publications for gene: QARS were set to
Genetic Epilepsy v0.636 QARS Zornitza Stark Mode of inheritance for gene: QARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.635 QARS Zornitza Stark reviewed gene: QARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 28620870, 25471517, 25432320, 25041233, 24656866, 32042906; Phenotypes: Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1820 QARS Zornitza Stark Marked gene: QARS as ready
Mendeliome v0.1820 QARS Zornitza Stark Gene: qars has been classified as Green List (High Evidence).
Mendeliome v0.1820 QARS Zornitza Stark Phenotypes for gene: QARS were changed from to Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760
Mendeliome v0.1819 QARS Zornitza Stark Publications for gene: QARS were set to Encodes t-RNA synthetase, over 20 individuals reported, include in mito panel in line with other t-RNA synthetases.
Mendeliome v0.1818 QARS Zornitza Stark Publications for gene: QARS were set to
Mendeliome v0.1817 QARS Zornitza Stark Mode of inheritance for gene: QARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1816 QARS Zornitza Stark reviewed gene: QARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 28620870, 25471517, 25432320, 25041233, 24656866, 32042906; Phenotypes: Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.318 QARS Zornitza Stark Marked gene: QARS as ready
Mitochondrial disease v0.318 QARS Zornitza Stark Gene: qars has been classified as Green List (High Evidence).
Mitochondrial disease v0.318 QARS Zornitza Stark Classified gene: QARS as Green List (high evidence)
Mitochondrial disease v0.318 QARS Zornitza Stark Gene: qars has been classified as Green List (High Evidence).
Mitochondrial disease v0.317 QARS Zornitza Stark gene: QARS was added
gene: QARS was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: QARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: QARS were set to 28620870; 25471517; 25432320; 25041233; 24656866; 32042906
Phenotypes for gene: QARS were set to Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760
Review for gene: QARS was set to GREEN
Added comment: Encodes t-RNA synthetase, over 20 individuals reported, include in mito panel in line with other t-RNA synthetases.
Sources: NHS GMS
Mendeliome v0.1816 PTCD3 Zornitza Stark Marked gene: PTCD3 as ready
Mendeliome v0.1816 PTCD3 Zornitza Stark Gene: ptcd3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1816 PTCD3 Zornitza Stark Classified gene: PTCD3 as Amber List (moderate evidence)
Mendeliome v0.1816 PTCD3 Zornitza Stark Gene: ptcd3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1815 PTCD3 Zornitza Stark gene: PTCD3 was added
gene: PTCD3 was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: PTCD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTCD3 were set to 30607703; 19427859
Phenotypes for gene: PTCD3 were set to Intellectual disability; optic atrophy; Leigh-like syndrome
Review for gene: PTCD3 was set to AMBER
Added comment: One compound heterozygote case and functional assays. Essential subunit of oxidative phosphorylation (OXPHOS) complexes.
Sources: NHS GMS
Mendeliome v0.1814 PTCD1 Zornitza Stark gene: PTCD1 was added
gene: PTCD1 was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: PTCD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTCD1 were set to 25058219
Phenotypes for gene: PTCD1 were set to Cardiomyopathy
Review for gene: PTCD1 was set to RED
Added comment: Single case reported with no functional characterisation. Biochemical analyses of heart tissue identified global COX defect. No OMIM phenotype.
Sources: NHS GMS
Mendeliome v0.1813 PNPLA4 Zornitza Stark Marked gene: PNPLA4 as ready
Mendeliome v0.1813 PNPLA4 Zornitza Stark Gene: pnpla4 has been classified as Red List (Low Evidence).
Mendeliome v0.1813 PNPLA4 Zornitza Stark Publications for gene: PNPLA4 were set to
Mendeliome v0.1812 PNPLA4 Zornitza Stark Mode of inheritance for gene: PNPLA4 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1811 PNPLA4 Zornitza Stark Classified gene: PNPLA4 as Red List (low evidence)
Mendeliome v0.1811 PNPLA4 Zornitza Stark Gene: pnpla4 has been classified as Red List (Low Evidence).
Mendeliome v0.1810 PNPLA4 Zornitza Stark edited their review of gene: PNPLA4: Changed rating: RED
Mitochondrial disease v0.316 PNPLA4 Zornitza Stark Publications for gene: PNPLA4 were set to
Mitochondrial disease v0.315 PNPLA4 Zornitza Stark Mode of inheritance for gene: PNPLA4 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mitochondrial disease v0.314 PNPLA4 Zornitza Stark Classified gene: PNPLA4 as Red List (low evidence)
Mitochondrial disease v0.314 PNPLA4 Zornitza Stark Gene: pnpla4 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.313 PNPLA4 Zornitza Stark edited their review of gene: PNPLA4: Changed rating: RED
Mendeliome v0.1810 OXA1L Zornitza Stark Marked gene: OXA1L as ready
Mendeliome v0.1810 OXA1L Zornitza Stark Gene: oxa1l has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1810 OXA1L Zornitza Stark Classified gene: OXA1L as Amber List (moderate evidence)
Mendeliome v0.1810 OXA1L Zornitza Stark Gene: oxa1l has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1809 OXA1L Zornitza Stark gene: OXA1L was added
gene: OXA1L was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: OXA1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OXA1L were set to 30201738; 16435202
Phenotypes for gene: OXA1L were set to Encephalopathy; hypotonia; developmental delay
Review for gene: OXA1L was set to AMBER
Added comment: Single family reported with biochemical and molecular analyses of patient skeletal muscle and fibroblasts. In vitro functional assays in human cell lines, Drosophila model, and yeast-based assays. Loss of function affects oxidative phosphorylation complexes IV and V.
Sources: NHS GMS
Mendeliome v0.1808 NSUN3 Zornitza Stark Marked gene: NSUN3 as ready
Mendeliome v0.1808 NSUN3 Zornitza Stark Gene: nsun3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1808 NSUN3 Zornitza Stark Classified gene: NSUN3 as Amber List (moderate evidence)
Mendeliome v0.1808 NSUN3 Zornitza Stark Gene: nsun3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1807 NSUN3 Zornitza Stark gene: NSUN3 was added
gene: NSUN3 was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: NSUN3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NSUN3 were set to 27356879
Phenotypes for gene: NSUN3 were set to combined mitochondrial respiratory chain complex deficiency
Review for gene: NSUN3 was set to AMBER
Added comment: A single compound heterozygous case. Patient-derived fibroblasts exhibited severe defects in mitochondrial translation that can be rescued by exogenous expression of NSun3. In vitro functional assays also conducted.
Sources: NHS GMS
Mitochondrial disease v0.313 CISD2 Bryony Thompson gene: CISD2 was added
gene: CISD2 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CISD2 were set to 29237418; 28335035; 27459537; 26230298; 17846994
Phenotypes for gene: CISD2 were set to Wolfram syndrome 2 MIM#604928
Review for gene: CISD2 was set to GREEN
Added comment: At least 3 families and a mouse model. Culture of patient-derived fibroblasts in glucose-free galactose medium revealed a respiratory chain defect in complexes I and II, and a trend towards decreased ATP levels.
Sources: NHS GMS
Cataract v0.33 EPCAM Lauren Akesson reviewed gene: EPCAM: Rating: RED; Mode of pathogenicity: None; Publications: 30461124; Phenotypes: Congenital diarrhoea 5 with tufting enteropathy, Lynch syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cataract v0.33 EED Lauren Akesson gene: EED was added
gene: EED was added to Cataract. Sources: Literature
Mode of inheritance for gene: EED was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EED were set to 25787343
Phenotypes for gene: EED were set to Cohen-Gibson syndrome
Penetrance for gene: EED were set to unknown
Review for gene: EED was set to AMBER
Added comment: Cataract has been reported in a single proband with a heterozygous missense variant in EED (no functional studies performed) (PMID 25787343). Cataracts have not been reported in subsequent probands (PMID 27193220 ; 27868325 ; 28229514 ; 29410511 ; 30858506).
Sources: Literature
Mitochondrial disease v0.312 COX4I1 Bryony Thompson gene: COX4I1 was added
gene: COX4I1 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: COX4I1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX4I1 were set to 28766551
Phenotypes for gene: COX4I1 were set to short stature; mild dysmorphic features; Fanconi anemia
Review for gene: COX4I1 was set to RED
Added comment: Single family with a homozygous variant, with assays in patient fibroblasts only.
Sources: NHS GMS
Mitochondrial disease v0.311 NNT Zornitza Stark Marked gene: NNT as ready
Mitochondrial disease v0.311 NNT Zornitza Stark Gene: nnt has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.311 NNT Zornitza Stark Classified gene: NNT as Amber List (moderate evidence)
Mitochondrial disease v0.311 NNT Zornitza Stark Gene: nnt has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.310 NNT Zornitza Stark reviewed gene: NNT: Rating: AMBER; Mode of pathogenicity: None; Publications: 25778941; Phenotypes: Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency MIM#614736; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.310 COX5A Bryony Thompson gene: COX5A was added
gene: COX5A was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: COX5A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX5A were set to 28247525
Phenotypes for gene: COX5A were set to pulmonary arterial hypertension; lactic acidemia; failure to thrive; isolated complex IV deficiency
Review for gene: COX5A was set to RED
Added comment: Single family with a homozygous variant, with assays conducted in patient fibroblasts only.
Sources: NHS GMS
Mendeliome v0.1806 NDUFB10 Zornitza Stark Marked gene: NDUFB10 as ready
Mendeliome v0.1806 NDUFB10 Zornitza Stark Gene: ndufb10 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1806 NDUFB10 Zornitza Stark Classified gene: NDUFB10 as Amber List (moderate evidence)
Mendeliome v0.1806 NDUFB10 Zornitza Stark Gene: ndufb10 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1805 NDUFB10 Zornitza Stark gene: NDUFB10 was added
gene: NDUFB10 was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: NDUFB10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFB10 were set to 28040730; 32025618
Phenotypes for gene: NDUFB10 were set to fatal infantile lactic acidosis; cardiomyopathy
Review for gene: NDUFB10 was set to AMBER
Added comment: Single compound heterozygote case and mitochondrial phenotype. Assays of respiratory chain enzyme activities and functions in patient tissues/fibroblasts and in vitro functional assays. Plant model system supporting mitochondrial complex I dysfunction.
Sources: NHS GMS
Cataract v0.33 DOCK8 Lauren Akesson reviewed gene: DOCK8: Rating: RED; Mode of pathogenicity: None; Publications: 18060736; Phenotypes: Hyper-IgE recurrent infection syndrome 243700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.33 DCLRE1C Lauren Akesson reviewed gene: DCLRE1C: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Omenn syndrome 603554, Severe combined immunodeficiency, Athabascan type 602450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.33 CYBB Lauren Akesson reviewed gene: CYBB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chronic granulomatous disease, immunodeficiency 34 with mycobacteriosis; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Cataract v0.33 CYBA Lauren Akesson reviewed gene: CYBA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chronic granulomatous disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.309 KIF5A Bryony Thompson gene: KIF5A was added
gene: KIF5A was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF5A were set to 27463701; 27414745
Phenotypes for gene: KIF5A were set to Myoclonus, intractable, neonatal MIM#617235
Mode of pathogenicity for gene: KIF5A was set to Other
Review for gene: KIF5A was set to AMBER
Added comment: Three unrelated cases with de novo heterozygous predicted stop-loss variants with read-through of the normal termination codon to create an elongated protein and predicted to be dominant-negative. One of the cases was diagnosed with complex IV deficiency based on a high suspicion of mitochondrial disease given the clinical presentation and borderline findings on electron transport chain studies. There is no evidence that heterozygous variants associated with spastic paraplegia are linked to mitochondrial dysfunction.
Sources: NHS GMS
Mitochondrial disease v0.308 MICU2 Bryony Thompson Marked gene: MICU2 as ready
Mitochondrial disease v0.308 MICU2 Bryony Thompson Gene: micu2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.308 MICU2 Bryony Thompson gene: MICU2 was added
gene: MICU2 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: MICU2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MICU2 were set to 29053821
Phenotypes for gene: MICU2 were set to cognitive impairment; spasticity; white matter involvement
Review for gene: MICU2 was set to RED
Added comment: Single multiplex consanguineous family segregating a homozygous truncating variant. Abnormal mitochondrial calcium homeostasis in patient cells.
Sources: NHS GMS
Mitochondrial disease v0.307 NAXD Bryony Thompson Marked gene: NAXD as ready
Mitochondrial disease v0.307 NAXD Bryony Thompson Gene: naxd has been classified as Green List (High Evidence).
Mitochondrial disease v0.307 NAXD Bryony Thompson Classified gene: NAXD as Green List (high evidence)
Mitochondrial disease v0.307 NAXD Bryony Thompson Gene: naxd has been classified as Green List (High Evidence).
Mitochondrial disease v0.306 NAXD Bryony Thompson gene: NAXD was added
gene: NAXD was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: NAXD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAXD were set to 30576410
Phenotypes for gene: NAXD were set to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321
Review for gene: NAXD was set to GREEN
Added comment: Six unrelated cases. Patient cells and muscle biopsies also showed impaired mitochondrial function, higher sensitivity to metabolic stress, and decreased mitochondrial reactive oxygen species production. In vitro functional assays also conducted.
Sources: NHS GMS
Mitochondrial disease v0.305 NDUFAF7 Bryony Thompson Marked gene: NDUFAF7 as ready
Mitochondrial disease v0.305 NDUFAF7 Bryony Thompson Gene: ndufaf7 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.305 NDUFAF7 Bryony Thompson gene: NDUFAF7 was added
gene: NDUFAF7 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: NDUFAF7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NDUFAF7 were set to 28837730
Phenotypes for gene: NDUFAF7 were set to Pathologic myopia
Review for gene: NDUFAF7 was set to RED
Added comment: Single family with heterozygous variant. In vitro functional assays conducted are not compelling evidence.
Sources: NHS GMS
Mitochondrial disease v0.304 NDUFB10 Bryony Thompson Marked gene: NDUFB10 as ready
Mitochondrial disease v0.304 NDUFB10 Bryony Thompson Gene: ndufb10 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.304 NDUFB10 Bryony Thompson Classified gene: NDUFB10 as Amber List (moderate evidence)
Mitochondrial disease v0.304 NDUFB10 Bryony Thompson Gene: ndufb10 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.303 NDUFB10 Bryony Thompson gene: NDUFB10 was added
gene: NDUFB10 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: NDUFB10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFB10 were set to 28040730; 32025618
Phenotypes for gene: NDUFB10 were set to fatal infantile lactic acidosis; cardiomyopathy
Review for gene: NDUFB10 was set to AMBER
Added comment: Single compound heterozygote case and assays of respiratory chain enzyme activities and functions in patient tissues/fibroblasts and in vitro functional assays. Plant model system supporting mitochondrial complex I dysfunction. No omim phenotype.
Sources: NHS GMS
Mitochondrial disease v0.302 NNT Bryony Thompson Classified gene: NNT as Green List (high evidence)
Mitochondrial disease v0.302 NNT Bryony Thompson Gene: nnt has been classified as Green List (High Evidence).
Mitochondrial disease v0.301 NNT Bryony Thompson gene: NNT was added
gene: NNT was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: NNT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NNT were set to 26309815; 22634753
Phenotypes for gene: NNT were set to Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency MIM#614736
Review for gene: NNT was set to GREEN
Added comment: >3 cases reported and a mouse model. A protein of the inner mitochondrial membrane with a key role in mitochondrial redox balance.
Sources: NHS GMS
Mitochondrial disease v0.300 NSUN3 Bryony Thompson Classified gene: NSUN3 as Amber List (moderate evidence)
Mitochondrial disease v0.300 NSUN3 Bryony Thompson Gene: nsun3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.299 NSUN3 Bryony Thompson gene: NSUN3 was added
gene: NSUN3 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: NSUN3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NSUN3 were set to 27356879
Phenotypes for gene: NSUN3 were set to combined mitochondrial respiratory chain complex deficiency
Review for gene: NSUN3 was set to AMBER
Added comment: A single compound heterozygous case. Patient-derived fibroblasts exhibited severe defects in mitochondrial translation that can be rescued by exogenous expression of NSun3. In vitro functional assays also conducted.
Sources: NHS GMS
Mitochondrial disease v0.298 OXA1L Bryony Thompson Classified gene: OXA1L as Amber List (moderate evidence)
Mitochondrial disease v0.298 OXA1L Bryony Thompson Gene: oxa1l has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.297 OXA1L Bryony Thompson changed review comment from: Single family reported with biochemical and molecular analyses of patient skeletal muscle and fibroblasts. In vitro functional assays in human cell lines and a Drosophila model. Loss of function affects oxidative phosphorylation complexes IV and V.
Sources: NHS GMS; to: Single family reported with biochemical and molecular analyses of patient skeletal muscle and fibroblasts. In vitro functional assays in human cell lines, Drosophila model, and yeast-based assays. Loss of function affects oxidative phosphorylation complexes IV and V.
Sources: NHS GMS
Mitochondrial disease v0.297 OXA1L Bryony Thompson edited their review of gene: OXA1L: Changed publications: 30201738, 16435202
Mitochondrial disease v0.297 OXA1L Bryony Thompson gene: OXA1L was added
gene: OXA1L was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: OXA1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OXA1L were set to 30201738
Phenotypes for gene: OXA1L were set to encephalopathy; hypotonia; developmental delay
Review for gene: OXA1L was set to AMBER
Added comment: Single family reported with biochemical and molecular analyses of patient skeletal muscle and fibroblasts. In vitro functional assays in human cell lines and a Drosophila model. Loss of function affects oxidative phosphorylation complexes IV and V.
Sources: NHS GMS
Mitochondrial disease v0.296 PET117 Bryony Thompson gene: PET117 was added
gene: PET117 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: PET117 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PET117 were set to 28386624
Phenotypes for gene: PET117 were set to Developmental delay
Review for gene: PET117 was set to RED
Added comment: Two siblings with deficiency of complex IV of the respiratory chain and a homozygous variant. Only functional assays conducted were complementation assays in patient fibroblasts.
Sources: NHS GMS
Mitochondrial disease v0.295 PITRM1 Bryony Thompson Classified gene: PITRM1 as Green List (high evidence)
Mitochondrial disease v0.295 PITRM1 Bryony Thompson Gene: pitrm1 has been classified as Green List (High Evidence).
Ataxia v0.51 PITRM1 Bryony Thompson Marked gene: PITRM1 as ready
Ataxia v0.51 PITRM1 Bryony Thompson Gene: pitrm1 has been classified as Green List (High Evidence).
Ataxia v0.51 PITRM1 Bryony Thompson Classified gene: PITRM1 as Green List (high evidence)
Ataxia v0.51 PITRM1 Bryony Thompson Gene: pitrm1 has been classified as Green List (High Evidence).
Ataxia v0.50 PITRM1 Bryony Thompson gene: PITRM1 was added
gene: PITRM1 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: PITRM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PITRM1 were set to 26697887; 29764912
Phenotypes for gene: PITRM1 were set to Cerebellar atrophy; mental retardation; spinocerebellar ataxia; cognitive decline; psychosis
Review for gene: PITRM1 was set to GREEN
Added comment: Three families with two unique variants and in vitro functional assays. Cases and mouse model have spinocerebellar ataxia as a prominent feature of the phenotype. No OMIM phenotype.
Sources: Literature
Mitochondrial disease v0.294 PITRM1 Bryony Thompson edited their review of gene: PITRM1: Changed rating: GREEN
Mitochondrial disease v0.294 PITRM1 Bryony Thompson gene: PITRM1 was added
gene: PITRM1 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: PITRM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PITRM1 were set to 26697887; 29764912
Phenotypes for gene: PITRM1 were set to Cerebellar atrophy; mental retardation; spinocerebellar ataxia; cognitive decline; psychosis
Added comment: Three families with two unique variants. Mitochondrial dysfunction identified in in vitro functional assays and mouse model. No OMIM phenotype.
Sources: NHS GMS
Mitochondrial disease v0.293 PLA2G6 Bryony Thompson Marked gene: PLA2G6 as ready
Mitochondrial disease v0.293 PLA2G6 Bryony Thompson Gene: pla2g6 has been classified as Green List (High Evidence).
Mitochondrial disease v0.293 PLA2G6 Bryony Thompson Classified gene: PLA2G6 as Green List (high evidence)
Mitochondrial disease v0.293 PLA2G6 Bryony Thompson Gene: pla2g6 has been classified as Green List (High Evidence).
Mitochondrial disease v0.292 PLA2G6 Bryony Thompson gene: PLA2G6 was added
gene: PLA2G6 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLA2G6 were set to 25348461; 26001724; 26506412; 30528460; 16783378
Phenotypes for gene: PLA2G6 were set to Infantile neuroaxonal dystrophy 1 MIM#256600; Neurodegeneration with brain iron accumulation 2B MIM#610217; Parkinson disease 14, autosomal recessive MIM#612953
Review for gene: PLA2G6 was set to GREEN
Added comment: Findings in a Drosophila/mouse models and patient fibroblasts demonstrated that loss of normal PLA2G6 gene activity leads to lipid peroxidation, mitochondrial dysfunction and subsequent mitochondrial membrane abnormalities. >3 cases reported.
Sources: NHS GMS
Mitochondrial disease v0.291 PTCD1 Bryony Thompson changed review comment from: Single case reported with no functional characterisation. Biochemical analyses of heart tissue identified global COX defect.
Sources: NHS GMS; to: Single case reported with no functional characterisation. Biochemical analyses of heart tissue identified global COX defect. No OMIM phenotype.
Sources: NHS GMS
Mitochondrial disease v0.291 PTCD1 Bryony Thompson gene: PTCD1 was added
gene: PTCD1 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: PTCD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTCD1 were set to 25058219
Phenotypes for gene: PTCD1 were set to Cardiomyopathy
Review for gene: PTCD1 was set to RED
Added comment: Single case reported with no functional characterisation. Biochemical analyses of heart tissue identified global COX defect.
Sources: NHS GMS
Mitochondrial disease v0.290 PTCD3 Bryony Thompson Classified gene: PTCD3 as Amber List (moderate evidence)
Mitochondrial disease v0.290 PTCD3 Bryony Thompson Gene: ptcd3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.289 PTCD3 Bryony Thompson gene: PTCD3 was added
gene: PTCD3 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: PTCD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTCD3 were set to 30607703; 19427859
Phenotypes for gene: PTCD3 were set to Mental retardation; optic atrophy; Leigh-like syndrome
Review for gene: PTCD3 was set to AMBER
Added comment: One compound heterozygote case and functional assays. Essential subunit of oxidative phosphorylation (OXPHOS) complexes.
Sources: NHS GMS
Mitochondrial disease v0.288 D2HGDH Bryony Thompson Marked gene: D2HGDH as ready
Mitochondrial disease v0.288 D2HGDH Bryony Thompson Gene: d2hgdh has been classified as Green List (High Evidence).
Mitochondrial disease v0.288 D2HGDH Bryony Thompson Classified gene: D2HGDH as Green List (high evidence)
Mitochondrial disease v0.288 D2HGDH Bryony Thompson Gene: d2hgdh has been classified as Green List (High Evidence).
Mitochondrial disease v0.287 D2HGDH Bryony Thompson gene: D2HGDH was added
gene: D2HGDH was added to Mitochondrial disease. Sources: Literature,NHS GMS
Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: D2HGDH were set to 25778941; 31349060; 15609246; 20020533
Phenotypes for gene: D2HGDH were set to D-2-hydroxyglutaric aciduria MIM#600721
Review for gene: D2HGDH was set to GREEN
Added comment: Enzyme catalyses oxidation of D-2HG, which is coupled to the mitochondrial electron transport chain. >3 cases reported.
Sources: Literature, NHS GMS
Mitochondrial disease v0.286 IDH2 Bryony Thompson Marked gene: IDH2 as ready
Mitochondrial disease v0.286 IDH2 Bryony Thompson Gene: idh2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.286 IDH2 Bryony Thompson Classified gene: IDH2 as Green List (high evidence)
Mitochondrial disease v0.286 IDH2 Bryony Thompson Gene: idh2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.285 IDH2 Bryony Thompson gene: IDH2 was added
gene: IDH2 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: IDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IDH2 were set to 25778941; 27142242; 20847235; 24049096
Phenotypes for gene: IDH2 were set to D-2-hydroxyglutaric aciduria 2 MIM#613657
Review for gene: IDH2 was set to GREEN
Added comment: Loss of IDH2 induces mitochondrial dysfunction in a mouse model. 17 cases with a de novo or inherited from a mosaic carrier (R140G, R140Q) have been reported.
Sources: Literature
Mitochondrial disease v0.284 PANK2 Bryony Thompson Marked gene: PANK2 as ready
Mitochondrial disease v0.284 PANK2 Bryony Thompson Gene: pank2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.284 PANK2 Bryony Thompson Classified gene: PANK2 as Green List (high evidence)
Mitochondrial disease v0.284 PANK2 Bryony Thompson Gene: pank2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.283 PANK2 Bryony Thompson gene: PANK2 was added
gene: PANK2 was added to Mitochondrial disease. Sources: Literature,NHS GMS
Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PANK2 were set to 25778941; 11479594; 12510040; 28863176
Phenotypes for gene: PANK2 were set to HARP syndrome MIM#607236; Neurodegeneration with brain iron accumulation 1 MIM#234200
Review for gene: PANK2 was set to GREEN
Added comment: A mitochondrial enzyme, which phosphorylates vitamin B5 in the first reaction of the CoA biosynthetic pathway (a relevant mitochondrial cofactor). >3 cases reported.
Sources: Literature, NHS GMS
Mitochondrial disease v0.282 COASY Bryony Thompson Marked gene: COASY as ready
Mitochondrial disease v0.282 COASY Bryony Thompson Gene: coasy has been classified as Green List (High Evidence).
Mitochondrial disease v0.282 COASY Bryony Thompson Classified gene: COASY as Green List (high evidence)
Mitochondrial disease v0.282 COASY Bryony Thompson Gene: coasy has been classified as Green List (High Evidence).
Mitochondrial disease v0.281 COASY Bryony Thompson gene: COASY was added
gene: COASY was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COASY were set to 25778941; 24360804; 30089828; 28489334
Phenotypes for gene: COASY were set to Neurodegeneration with brain iron accumulation 6 MIM#615643; Pontocerebellar hypoplasia, type 12 MIM#618266
Review for gene: COASY was set to GREEN
Added comment: A bi-functional mitochondrial enzyme, which catalyzes the final steps of CoA biosynthesis, a relevant mitochondrial cofactor. >3 cases reported.
Sources: NHS GMS, Literature
Mitochondrial disease v0.280 PPOX Bryony Thompson Marked gene: PPOX as ready
Mitochondrial disease v0.280 PPOX Bryony Thompson Gene: ppox has been classified as Green List (High Evidence).
Mitochondrial disease v0.280 PPOX Bryony Thompson Classified gene: PPOX as Green List (high evidence)
Mitochondrial disease v0.280 PPOX Bryony Thompson Gene: ppox has been classified as Green List (High Evidence).
Mitochondrial disease v0.279 PPOX Bryony Thompson gene: PPOX was added
gene: PPOX was added to Mitochondrial disease. Sources: Literature,NHS GMS
Mode of inheritance for gene: PPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PPOX were set to 25778941; 9811936; 12859407; 30476629
Phenotypes for gene: PPOX were set to Porphyria variegata MIM#176200
Review for gene: PPOX was set to GREEN
Added comment: Variegate porphyria is a disorder of heme metabolism resulting from a deficiency in protoporphyrinogen oxidase, an enzyme located on the inner mitochondrial membrane. A defect in a relevant mitochondrial cofactor. >3 cases reported.
Sources: Literature, NHS GMS
Mitochondrial disease v0.278 HADHB Bryony Thompson Marked gene: HADHB as ready
Mitochondrial disease v0.278 HADHB Bryony Thompson Gene: hadhb has been classified as Green List (High Evidence).
Mitochondrial disease v0.278 HADHB Bryony Thompson Classified gene: HADHB as Green List (high evidence)
Mitochondrial disease v0.278 HADHB Bryony Thompson Gene: hadhb has been classified as Green List (High Evidence).
Mitochondrial disease v0.277 HADHB Bryony Thompson gene: HADHB was added
gene: HADHB was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HADHB were set to 25778941; 30682426; 9259266; 29956646
Phenotypes for gene: HADHB were set to Trifunctional protein deficiency MIM#609015
Review for gene: HADHB was set to GREEN
Added comment: The heterooctameric mitochondrial trifunctional protein (MTP), composed of four α- and β-subunits harbours three enzymes that each perform a different function in mitochondrial fatty acid β-oxidation. MTP deficiency is a defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported.
Sources: NHS GMS, Literature
Mitochondrial disease v0.276 HADHA Bryony Thompson Marked gene: HADHA as ready
Mitochondrial disease v0.276 HADHA Bryony Thompson Gene: hadha has been classified as Green List (High Evidence).
Mitochondrial disease v0.276 HADHA Bryony Thompson Classified gene: HADHA as Green List (high evidence)
Mitochondrial disease v0.276 HADHA Bryony Thompson Gene: hadha has been classified as Green List (High Evidence).
Mitochondrial disease v0.275 HADHA Bryony Thompson gene: HADHA was added
gene: HADHA was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HADHA were set to 25778941; 7811722; 29459657
Phenotypes for gene: HADHA were set to LCHAD deficiency MIM#609016; Trifunctional protein deficiency MIM#609015
Review for gene: HADHA was set to GREEN
Added comment: Long-Chain-3-Hydroxy-Acyl-CoA-Dehydrogenase-Deficiency (LCHADD) is an inherited disorder affecting mitochondrial fatty acid β-oxidation. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported. Also affects mitochondrial morphology.
Sources: NHS GMS, Literature
Mendeliome v0.1804 NDUFA4 Zornitza Stark Classified gene: NDUFA4 as Green List (high evidence)
Mendeliome v0.1804 NDUFA4 Zornitza Stark Gene: ndufa4 has been classified as Green List (High Evidence).
Mendeliome v0.1803 NDUFA4 Zornitza Stark changed review comment from: Single family and a lot of functional data. Encodes a complex IV subunit.; to: Single family and a lot of functional data. Unpublished data on another family. Encodes a complex IV subunit.
Mendeliome v0.1803 NDUFA4 Zornitza Stark edited their review of gene: NDUFA4: Changed rating: GREEN
Mitochondrial disease v0.274 NDUFA4 Zornitza Stark Classified gene: NDUFA4 as Green List (high evidence)
Mitochondrial disease v0.274 NDUFA4 Zornitza Stark Gene: ndufa4 has been classified as Green List (High Evidence).
Mitochondrial disease v0.273 NDUFA4 Zornitza Stark changed review comment from: Single family and a lot of functional data. Encodes a complex IV subunit.; to: Single family and a lot of functional data. Unpublished data on another family. Encodes a complex IV subunit.
Mitochondrial disease v0.273 NDUFA4 Zornitza Stark edited their review of gene: NDUFA4: Changed rating: GREEN
Mendeliome v0.1803 MRPS14 Zornitza Stark Marked gene: MRPS14 as ready
Mendeliome v0.1803 MRPS14 Zornitza Stark Gene: mrps14 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1803 MRPS14 Zornitza Stark Classified gene: MRPS14 as Amber List (moderate evidence)
Mendeliome v0.1803 MRPS14 Zornitza Stark Gene: mrps14 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1802 MRPS14 Zornitza Stark edited their review of gene: MRPS14: Changed rating: AMBER; Changed phenotypes: Combined oxidative phosphorylation deficiency 38, MIM# 618378
Mitochondrial disease v0.273 MRPS14 Zornitza Stark Classified gene: MRPS14 as Amber List (moderate evidence)
Mitochondrial disease v0.273 MRPS14 Zornitza Stark Gene: mrps14 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.272 MRPS14 Zornitza Stark edited their review of gene: MRPS14: Changed rating: AMBER; Changed phenotypes: Combined oxidative phosphorylation deficiency 38, MIM# 618378
Mitochondrial disease v0.272 HADH Bryony Thompson Marked gene: HADH as ready
Mitochondrial disease v0.272 HADH Bryony Thompson Gene: hadh has been classified as Green List (High Evidence).
Mitochondrial disease v0.272 HADH Bryony Thompson Classified gene: HADH as Green List (high evidence)
Mitochondrial disease v0.272 HADH Bryony Thompson Gene: hadh has been classified as Green List (High Evidence).
Mitochondrial disease v0.271 HADH Bryony Thompson Classified gene: HADH as Amber List (moderate evidence)
Mitochondrial disease v0.271 HADH Bryony Thompson Gene: hadh has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.270 HADH Bryony Thompson gene: HADH was added
gene: HADH was added to Mitochondrial disease. Sources: Literature,NHS GMS
Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HADH were set to 25778941; 23430856; 27771675; 11489939
Phenotypes for gene: HADH were set to 3-hydroxyacyl-CoA dehydrogenase deficiency MIM#231530
Review for gene: HADH was set to GREEN
Added comment: Short-chain-L-3-hydroxyacyl-CoA dehydrogenase deficiency is an inherited disorder affecting mitochondrial fatty acid β-oxidation. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported.
Sources: Literature, NHS GMS
Mitochondrial disease v0.269 CPT2 Bryony Thompson Mode of inheritance for gene: CPT2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.268 CPT2 Bryony Thompson edited their review of gene: CPT2: Changed phenotypes: CPT II deficiency, infantile MIM#600649, CPT II deficiency, lethal neonatal MIM#608836, CPT II deficiency, myopathic, stress-induced MIM#255110; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.268 CPT2 Bryony Thompson Marked gene: CPT2 as ready
Mitochondrial disease v0.268 CPT2 Bryony Thompson Gene: cpt2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.268 CPT2 Bryony Thompson Classified gene: CPT2 as Green List (high evidence)
Mitochondrial disease v0.268 CPT2 Bryony Thompson Gene: cpt2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.267 CPT2 Bryony Thompson gene: CPT2 was added
gene: CPT2 was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPT2 were set to 25778941; 12673791; 30957255
Phenotypes for gene: CPT2 were set to CPT II deficiency, infantile MIM#600649; CPT II deficiency, lethal neonatal MIM#608836; CPT II deficiency, myopathic, stress-induced MIM#255110
Review for gene: CPT2 was set to GREEN
Added comment: Carnitine palmitoyltransferase II (CPT2) is a rare autosomal recessive inherited disorder affecting mitochondrial fatty acid β-oxidation. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported.
Sources: NHS GMS, Literature
Mitochondrial disease v0.266 CPT1A Bryony Thompson Marked gene: CPT1A as ready
Mitochondrial disease v0.266 CPT1A Bryony Thompson Gene: cpt1a has been classified as Green List (High Evidence).
Mitochondrial disease v0.266 CPT1A Bryony Thompson Classified gene: CPT1A as Green List (high evidence)
Mitochondrial disease v0.266 CPT1A Bryony Thompson Gene: cpt1a has been classified as Green List (High Evidence).
Mitochondrial disease v0.265 CPT1A Bryony Thompson gene: CPT1A was added
gene: CPT1A was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPT1A were set to 25778941; 12189492; 23430932
Phenotypes for gene: CPT1A were set to CPT deficiency, hepatic, type IA MIM#255120
Review for gene: CPT1A was set to GREEN
Added comment: Hepatic carnitine palmitoyltransferase (CPT) deficiency type 1A is a disorder of mitochondrial fatty acid oxidation. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported.
Sources: NHS GMS, Literature
Mendeliome v0.1802 MRM2 Zornitza Stark Marked gene: MRM2 as ready
Mendeliome v0.1802 MRM2 Zornitza Stark Gene: mrm2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1802 MRM2 Zornitza Stark Classified gene: MRM2 as Amber List (moderate evidence)
Mendeliome v0.1802 MRM2 Zornitza Stark Gene: mrm2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1801 MRM2 Zornitza Stark gene: MRM2 was added
gene: MRM2 was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: MRM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRM2 were set to 28973171
Phenotypes for gene: MRM2 were set to MELAS-like
Review for gene: MRM2 was set to AMBER
Added comment: Single individual reported plus functional data. MRM2 encodes an enzyme responsible for 2'-O-methyl modification at position U1369 in the human mitochondrial 16S rRNA.
Sources: NHS GMS
Intellectual disability syndromic and non-syndromic v0.2473 MRPL3 Zornitza Stark reviewed gene: MRPL3: Rating: AMBER; Mode of pathogenicity: None; Publications: 27815843, 21786366; Phenotypes: Combined oxidative phosphorylation deficiency 9, OMIM #614582; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.264 ACADVL Bryony Thompson Marked gene: ACADVL as ready
Mitochondrial disease v0.264 ACADVL Bryony Thompson Gene: acadvl has been classified as Green List (High Evidence).
Mitochondrial disease v0.264 ACADVL Bryony Thompson Classified gene: ACADVL as Green List (high evidence)
Mitochondrial disease v0.264 ACADVL Bryony Thompson Gene: acadvl has been classified as Green List (High Evidence).
Mitochondrial disease v0.263 ACADVL Bryony Thompson gene: ACADVL was added
gene: ACADVL was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACADVL were set to 25778941; 8845838; 29459657
Phenotypes for gene: ACADVL were set to VLCAD deficiency MIM#201475
Review for gene: ACADVL was set to GREEN
Added comment: Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a mitochondrial fatty acid oxidation disorder. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported.
Sources: NHS GMS, Literature
Mitochondrial disease v0.262 MRPL3 Zornitza Stark Classified gene: MRPL3 as Green List (high evidence)
Mitochondrial disease v0.262 MRPL3 Zornitza Stark Gene: mrpl3 has been classified as Green List (High Evidence).
Mendeliome v0.1800 MRPL3 Zornitza Stark Classified gene: MRPL3 as Green List (high evidence)
Mendeliome v0.1800 MRPL3 Zornitza Stark Gene: mrpl3 has been classified as Green List (High Evidence).
Mendeliome v0.1799 MRPL3 Zornitza Stark changed review comment from: 1 French family with 4 sibs with severe mitochondrial disorder - compound heterozygous mutations in the MRPL3 gene, no functional studies. 1 male infant with a severe mitochondrial disorder - compound heterozygous mutations in the MRPL3 gene, no functional studies.; to: 1 French family with 4 sibs with severe mitochondrial disorder - compound heterozygous mutations in the MRPL3 gene, some functional studies. 1 male infant with a severe mitochondrial disorder - compound heterozygous mutations in the MRPL3 gene, no functional studies.
Mendeliome v0.1799 MRPL3 Zornitza Stark edited their review of gene: MRPL3: Changed rating: GREEN
Mitochondrial disease v0.261 MRPL3 Zornitza Stark edited their review of gene: MRPL3: Changed rating: GREEN
Mitochondrial disease v0.261 MRPL3 Zornitza Stark changed review comment from: 1 French family with 4 sibs with severe mitochondrial disorder - compound heterozygous mutations in the MRPL3 gene, no functional studies. 1 male infant with a severe mitochondrial disorder - compound heterozygous mutations in the MRPL3 gene, no functional studies.; to: 1 French family with 4 sibs with severe mitochondrial disorder - compound heterozygous mutations in the MRPL3 gene, some functional studies. 1 male infant with a severe mitochondrial disorder - compound heterozygous mutations in the MRPL3 gene, no functional studies.
Mitochondrial disease v0.261 MRM2 Zornitza Stark Marked gene: MRM2 as ready
Mitochondrial disease v0.261 MRM2 Zornitza Stark Gene: mrm2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.261 MRM2 Zornitza Stark Classified gene: MRM2 as Amber List (moderate evidence)
Mitochondrial disease v0.261 MRM2 Zornitza Stark Gene: mrm2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.260 MRM2 Zornitza Stark gene: MRM2 was added
gene: MRM2 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: MRM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRM2 were set to 28973171
Phenotypes for gene: MRM2 were set to MELAS-like
Review for gene: MRM2 was set to AMBER
Added comment: Single individual reported plus functional data. MRM2 encodes an enzyme responsible for 2'-O-methyl modification at position U1369 in the human mitochondrial 16S rRNA.
Sources: NHS GMS
Mitochondrial disease v0.259 ACADSB Bryony Thompson Classified gene: ACADSB as Green List (high evidence)
Mitochondrial disease v0.259 ACADSB Bryony Thompson Gene: acadsb has been classified as Green List (High Evidence).
Mitochondrial disease v0.258 ACADSB Bryony Thompson gene: ACADSB was added
gene: ACADSB was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: ACADSB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACADSB were set to 25778941; 17945527
Phenotypes for gene: ACADSB were set to 2-methylbutyrylglycinuria MIM#610006
Review for gene: ACADSB was set to GREEN
Added comment: 2-Methylbutyryl-CoA dehydrogenase (MBD) deficiency is an autosomal recessive metabolic disorder of impaired isoleucine degradation, a mitochondrial disorder of fatty acid β-oxidation. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported. Cases are usually asymptomatic, but can have neurological symptoms.
Sources: NHS GMS, Literature
Mitochondrial disease v0.257 ACADS Bryony Thompson Marked gene: ACADS as ready
Mitochondrial disease v0.257 ACADS Bryony Thompson Gene: acads has been classified as Green List (High Evidence).
Mitochondrial disease v0.257 ACADS Bryony Thompson Classified gene: ACADS as Green List (high evidence)
Mitochondrial disease v0.257 ACADS Bryony Thompson Gene: acads has been classified as Green List (High Evidence).
Mitochondrial disease v0.256 ACADS Bryony Thompson gene: ACADS was added
gene: ACADS was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: ACADS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACADS were set to 25778941; 2808706; 29678161
Phenotypes for gene: ACADS were set to Acyl-CoA dehydrogenase, short-chain, deficiency of MIM#201470
Review for gene: ACADS was set to GREEN
Added comment: Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive mitochondrial disorder of fatty acid β-oxidation. A defect in the substrate-generating upstream reactions of OXPHOS. >10 cases reported.
Sources: NHS GMS, Literature
Mitochondrial disease v0.255 ACADM Bryony Thompson Marked gene: ACADM as ready
Mitochondrial disease v0.255 ACADM Bryony Thompson Gene: acadm has been classified as Green List (High Evidence).
Mitochondrial disease v0.255 ACADM Bryony Thompson Classified gene: ACADM as Green List (high evidence)
Mitochondrial disease v0.255 ACADM Bryony Thompson Gene: acadm has been classified as Green List (High Evidence).
Mitochondrial disease v0.254 ACADM Bryony Thompson gene: ACADM was added
gene: ACADM was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACADM were set to 25778941; 1972503; 26223887
Phenotypes for gene: ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of MIM#201450
Review for gene: ACADM was set to GREEN
Added comment: Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a disorder of mitochondrial fatty acid β-oxidation. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported.
Sources: NHS GMS, Literature
Mitochondrial disease v0.253 OXCT1 Bryony Thompson Marked gene: OXCT1 as ready
Mitochondrial disease v0.253 OXCT1 Bryony Thompson Gene: oxct1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.253 OXCT1 Bryony Thompson Classified gene: OXCT1 as Green List (high evidence)
Mitochondrial disease v0.253 OXCT1 Bryony Thompson Gene: oxct1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.252 OXCT1 Bryony Thompson gene: OXCT1 was added
gene: OXCT1 was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: OXCT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OXCT1 were set to 25778941; 10964512; 8751852; 23420214
Phenotypes for gene: OXCT1 were set to Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050
Review for gene: OXCT1 was set to GREEN
Added comment: A mitochondrial matrix enzyme. Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is a rare inherited metabolic disorder of ketone metabolism. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported.
Sources: NHS GMS, Literature
Mitochondrial disease v0.251 HMGCS2 Bryony Thompson Marked gene: HMGCS2 as ready
Mitochondrial disease v0.251 HMGCS2 Bryony Thompson Gene: hmgcs2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.251 HMGCS2 Bryony Thompson Classified gene: HMGCS2 as Green List (high evidence)
Mitochondrial disease v0.251 HMGCS2 Bryony Thompson Gene: hmgcs2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.250 HMGCS2 Bryony Thompson gene: HMGCS2 was added
gene: HMGCS2 was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: HMGCS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HMGCS2 were set to 25778941; 9337379; 23751782
Phenotypes for gene: HMGCS2 were set to HMG-CoA synthase-2 deficiency MIM#605911
Review for gene: HMGCS2 was set to GREEN
Added comment: Mitochondrial HMG-CoA synthase deficiency is a rare inherited metabolic disorder that affects ketone-body synthesis. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported.
Sources: NHS GMS, Literature
Mitochondrial disease v0.249 HMGCL Bryony Thompson Marked gene: HMGCL as ready
Mitochondrial disease v0.249 HMGCL Bryony Thompson Gene: hmgcl has been classified as Green List (High Evidence).
Mitochondrial disease v0.249 HMGCL Bryony Thompson Classified gene: HMGCL as Green List (high evidence)
Mitochondrial disease v0.249 HMGCL Bryony Thompson Gene: hmgcl has been classified as Green List (High Evidence).
Mitochondrial disease v0.248 HMGCL Bryony Thompson gene: HMGCL was added
gene: HMGCL was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HMGCL were set to 25778941; 11129331; 19036343
Phenotypes for gene: HMGCL were set to HMG-CoA lyase deficiency MIM#246450
Review for gene: HMGCL was set to GREEN
Added comment: 3-Hydroxy-3-methylglutaric aciduria is a rare autosomal recessive genetic disorder due to a deficiency of the 3-hydroxy-3-methylglutarylCoA lyase (HMG-CoA lyase), a mitochondrial enzyme involved in ketogenesis and in the final step of l-leucine catabolism. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported.
Sources: NHS GMS, Literature
Mitochondrial disease v0.247 ACAT1 Bryony Thompson Classified gene: ACAT1 as Green List (high evidence)
Mitochondrial disease v0.247 ACAT1 Bryony Thompson Gene: acat1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.246 ACAT1 Bryony Thompson gene: ACAT1 was added
gene: ACAT1 was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACAT1 were set to 31268215; 25778941; 1715688
Phenotypes for gene: ACAT1 were set to Alpha-methylacetoacetic aciduria MIM#203750
Review for gene: ACAT1 was set to GREEN
Added comment: Mitochondrial acetoacetyl-CoA thiolase deficiency is an inherited disorder of ketone body and isoleucine metabolism. A defect in the substrate-generating upstream reactions of OXPHOS. Over 100 cases reported.
Sources: NHS GMS, Literature
Mitochondrial disease v0.245 XPNPEP3 Bryony Thompson Marked gene: XPNPEP3 as ready
Mitochondrial disease v0.245 XPNPEP3 Bryony Thompson Gene: xpnpep3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.245 XPNPEP3 Bryony Thompson Classified gene: XPNPEP3 as Amber List (moderate evidence)
Mitochondrial disease v0.245 XPNPEP3 Bryony Thompson Added comment: Comment on list classification: No other families reported since the two reported in 2010, and the animal model is a zebrafish rather than mouse, thus set to amber.
Mitochondrial disease v0.245 XPNPEP3 Bryony Thompson Gene: xpnpep3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.244 XPNPEP3 Bryony Thompson gene: XPNPEP3 was added
gene: XPNPEP3 was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: XPNPEP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XPNPEP3 were set to 20179356; 25778941
Phenotypes for gene: XPNPEP3 were set to Nephronophthisis-like nephropathy 1 MIM#613159
Review for gene: XPNPEP3 was set to AMBER
Added comment: Two families with two different homozygous variants, and a zebrafish model. The protein localises to the mitochondria of renal cells and is involved in mitochondrial homeostasis. It belongs to a family of X-pro-aminopeptidases, and has a role in ciliary function.
Sources: NHS GMS, Literature
Mitochondrial disease v0.243 SLC25A20 Bryony Thompson Marked gene: SLC25A20 as ready
Mitochondrial disease v0.243 SLC25A20 Bryony Thompson Gene: slc25a20 has been classified as Green List (High Evidence).
Mitochondrial disease v0.243 SLC25A20 Bryony Thompson Classified gene: SLC25A20 as Green List (high evidence)
Mitochondrial disease v0.243 SLC25A20 Bryony Thompson Gene: slc25a20 has been classified as Green List (High Evidence).
Mitochondrial disease v0.242 SLC25A20 Bryony Thompson gene: SLC25A20 was added
gene: SLC25A20 was added to Mitochondrial disease. Sources: Literature,NHS GMS
Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A20 were set to 9399886; 31108048; 25778941
Phenotypes for gene: SLC25A20 were set to Carnitine-acylcarnitine translocase deficiency MIM#212138
Review for gene: SLC25A20 was set to GREEN
Added comment: >3 cases. Condition is a recessive disorder of mitochondrial fatty acid oxidation.
Sources: Literature, NHS GMS
Mitochondrial disease v0.241 SLC22A5 Bryony Thompson Classified gene: SLC22A5 as Green List (high evidence)
Mitochondrial disease v0.241 SLC22A5 Bryony Thompson Gene: slc22a5 has been classified as Green List (High Evidence).
Mitochondrial disease v0.240 SLC22A5 Bryony Thompson gene: SLC22A5 was added
gene: SLC22A5 was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC22A5 were set to 9916797; 25778941; 17884651
Phenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary MIM#212140
Review for gene: SLC22A5 was set to GREEN
Added comment: >3 cases and a mouse model. Protein has a function in carnitine-dependent oxidation of long-chain fatty acids in mitochondria and is essential for normal gut function.
Sources: NHS GMS, Literature
Mendeliome v0.1799 IDH3A Zornitza Stark Marked gene: IDH3A as ready
Mendeliome v0.1799 IDH3A Zornitza Stark Gene: idh3a has been classified as Green List (High Evidence).
Mendeliome v0.1799 IDH3A Zornitza Stark Classified gene: IDH3A as Green List (high evidence)
Mendeliome v0.1799 IDH3A Zornitza Stark Gene: idh3a has been classified as Green List (High Evidence).
Mendeliome v0.1798 IDH3A Zornitza Stark gene: IDH3A was added
gene: IDH3A was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: IDH3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IDH3A were set to 31012789; 30478029; 30058936; 28412069
Phenotypes for gene: IDH3A were set to Retinitis pigmentosa
Review for gene: IDH3A was set to GREEN
Added comment: Six unrelated families reported with retinitis pigmentosa. Mouse model.
Sources: NHS GMS
Mitochondrial disease v0.239 IDH3A Zornitza Stark Classified gene: IDH3A as Green List (high evidence)
Mitochondrial disease v0.239 IDH3A Zornitza Stark Gene: idh3a has been classified as Green List (High Evidence).
Mitochondrial disease v0.238 IDH3A Zornitza Stark gene: IDH3A was added
gene: IDH3A was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: IDH3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IDH3A were set to 31012789; 30478029; 30058936; 28412069
Phenotypes for gene: IDH3A were set to Retinitis pigmentosa
Review for gene: IDH3A was set to GREEN
Added comment: Six unrelated families reported with retinitis pigmentosa. Mouse model.
Sources: NHS GMS
Mitochondrial disease v0.237 HLCS Zornitza Stark Classified gene: HLCS as Green List (high evidence)
Mitochondrial disease v0.237 HLCS Zornitza Stark Gene: hlcs has been classified as Green List (High Evidence).
Mitochondrial disease v0.236 HLCS Zornitza Stark edited their review of gene: HLCS: Changed rating: GREEN
Mendeliome v0.1797 GATC Zornitza Stark Marked gene: GATC as ready
Mendeliome v0.1797 GATC Zornitza Stark Gene: gatc has been classified as Red List (Low Evidence).
Mendeliome v0.1797 GATC Zornitza Stark gene: GATC was added
gene: GATC was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: GATC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GATC were set to 30283131
Phenotypes for gene: GATC were set to Mitochondrial cardiomyopathy
Review for gene: GATC was set to RED
Added comment: Two families with 6 affected individuals reported; same homozygous variant.
Sources: NHS GMS
Mitochondrial disease v0.236 GATC Zornitza Stark Marked gene: GATC as ready
Mitochondrial disease v0.236 GATC Zornitza Stark Gene: gatc has been classified as Red List (Low Evidence).
Mitochondrial disease v0.236 GATC Zornitza Stark gene: GATC was added
gene: GATC was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: GATC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GATC were set to 30283131
Phenotypes for gene: GATC were set to Mitochondrial cardiomyopathy
Review for gene: GATC was set to RED
Added comment: Two families with 6 affected individuals reported; same homozygous variant.
Sources: NHS GMS
Mendeliome v0.1796 GATB Zornitza Stark Marked gene: GATB as ready
Mendeliome v0.1796 GATB Zornitza Stark Gene: gatb has been classified as Red List (Low Evidence).
Mendeliome v0.1796 GATB Zornitza Stark gene: GATB was added
gene: GATB was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: GATB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GATB were set to 30283131
Phenotypes for gene: GATB were set to Mitochondrial cardiomyopathy
Review for gene: GATB was set to RED
Added comment: Single family reported with two affected siblings
Sources: NHS GMS
Mitochondrial disease v0.235 GATB Zornitza Stark Marked gene: GATB as ready
Mitochondrial disease v0.235 GATB Zornitza Stark Gene: gatb has been classified as Red List (Low Evidence).
Mitochondrial disease v0.235 GATB Zornitza Stark gene: GATB was added
gene: GATB was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: GATB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GATB were set to 30283131
Phenotypes for gene: GATB were set to Mitochondrial cardiomyopathy
Review for gene: GATB was set to RED
Added comment: Single family reported with two affected siblings.
Sources: NHS GMS
Mitochondrial disease v0.234 SLC25A10 Bryony Thompson Classified gene: SLC25A10 as Amber List (moderate evidence)
Mitochondrial disease v0.234 SLC25A10 Bryony Thompson Gene: slc25a10 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.233 SLC25A10 Bryony Thompson gene: SLC25A10 was added
gene: SLC25A10 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: SLC25A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A10 were set to 29211846
Phenotypes for gene: SLC25A10 were set to Intractable epileptic encephalopathy
Review for gene: SLC25A10 was set to AMBER
Added comment: One case with intractable epileptic encephalopathy with complex I deficiency, with biallelic variants. Yeast SLC25A10 ortholog lack-of-function causes impairment in mitochondrial respiration, reduced mtDNA copy number and oxidative stress vulnerability
Sources: NHS GMS
Mendeliome v0.1795 EFTUD2 Elena Savva reviewed gene: EFTUD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mandibulofacial dysostosis, Guion-Almeida type 610536; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.1795 PAX1 Elena Savva reviewed gene: PAX1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29681087, 28657137, 23851939; Phenotypes: ?Otofaciocervical syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1795 SHANK2 Elena Savva reviewed gene: SHANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30072871, 30911184; Phenotypes: {Autism susceptibility 17}, Autism spectrum disorder with or without intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mitochondrial disease v0.232 SLC25A21 Bryony Thompson Marked gene: SLC25A21 as ready
Mitochondrial disease v0.232 SLC25A21 Bryony Thompson Gene: slc25a21 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.232 SLC25A21 Bryony Thompson Classified gene: SLC25A21 as Amber List (moderate evidence)
Mitochondrial disease v0.232 SLC25A21 Bryony Thompson Gene: slc25a21 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.231 SLC25A21 Bryony Thompson gene: SLC25A21 was added
gene: SLC25A21 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: SLC25A21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A21 were set to 29517768
Phenotypes for gene: SLC25A21 were set to Mitochondrial DNA depletion syndrome-18 MIM#618811
Review for gene: SLC25A21 was set to AMBER
Added comment: One case with a homozygous variant and functional assays showing mitochondrial dysfunction.
Sources: NHS GMS
Mitochondrial disease v0.230 SLC25A24 Bryony Thompson Marked gene: SLC25A24 as ready
Mitochondrial disease v0.230 SLC25A24 Bryony Thompson Gene: slc25a24 has been classified as Green List (High Evidence).
Mitochondrial disease v0.230 SLC25A24 Bryony Thompson Classified gene: SLC25A24 as Green List (high evidence)
Mitochondrial disease v0.230 SLC25A24 Bryony Thompson Gene: slc25a24 has been classified as Green List (High Evidence).
Mitochondrial disease v0.229 SLC25A24 Bryony Thompson gene: SLC25A24 was added
gene: SLC25A24 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: SLC25A24 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC25A24 were set to 29100094; 29100093
Phenotypes for gene: SLC25A24 were set to Fontaine progeroid syndrome MIM#612289
Review for gene: SLC25A24 was set to GREEN
Added comment: De novo heterozygous variants (R217H, R217C) were identified in 9 unrelated cases. Functional analysis demonstrated that the variants affect mitochondrial morphology, and also suggested an impact on oxidative phosphorylation via decreased ATP synthesis and an increase in the mitochondrial membrane potential, thus creating conditions that are inhospitable to cell proliferation.
Sources: NHS GMS
Mendeliome v0.1795 IFT172 Elena Savva reviewed gene: IFT172: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26763875; Phenotypes: Retinitis pigmentosa 71 616394, Short-rib thoracic dysplasia 10 with or without polydactyly - 615630, Bardet-Biedl syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.228 SLC39A8 Bryony Thompson Classified gene: SLC39A8 as Amber List (moderate evidence)
Mitochondrial disease v0.228 SLC39A8 Bryony Thompson Added comment: Comment on list classification: There's currently one family with a Leigh-like mitochondrial phenotype and in vitro functional assay data.
Mitochondrial disease v0.228 SLC39A8 Bryony Thompson Gene: slc39a8 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.227 SLC39A8 Zornitza Stark Marked gene: SLC39A8 as ready
Mitochondrial disease v0.227 SLC39A8 Zornitza Stark Gene: slc39a8 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.227 SLC39A8 Zornitza Stark Classified gene: SLC39A8 as Amber List (moderate evidence)
Mitochondrial disease v0.227 SLC39A8 Zornitza Stark Gene: slc39a8 has been classified as Amber List (Moderate Evidence).
Cataract v0.33 CD40LG Zornitza Stark Marked gene: CD40LG as ready
Cataract v0.33 CD40LG Zornitza Stark Gene: cd40lg has been classified as Red List (Low Evidence).
Cataract v0.33 CD40LG Zornitza Stark Phenotypes for gene: CD40LG were changed from to Immunodeficiency with Hyper-IgM type 1
Cataract v0.32 CD40LG Zornitza Stark Mode of inheritance for gene: CD40LG was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cataract v0.32 CD40LG Zornitza Stark Classified gene: CD40LG as Red List (low evidence)
Cataract v0.32 CD40LG Zornitza Stark Gene: cd40lg has been classified as Red List (Low Evidence).
Cataract v0.31 CD3G Zornitza Stark Marked gene: CD3G as ready
Cataract v0.31 CD3G Zornitza Stark Gene: cd3g has been classified as Red List (Low Evidence).
Cataract v0.31 CD3G Zornitza Stark Phenotypes for gene: CD3G were changed from to Immunodeficiency 17, CD3 gamma deficient
Cataract v0.30 CD3G Zornitza Stark Publications for gene: CD3G were set to
Cataract v0.30 CD3G Zornitza Stark Classified gene: CD3G as Red List (low evidence)
Cataract v0.30 CD3G Zornitza Stark Gene: cd3g has been classified as Red List (Low Evidence).
Haem degradation and bilirubin metabolism defects v0.0 FECH Zornitza Stark Tag SV/CNV tag was added to gene: FECH.
Tag deep intronic tag was added to gene: FECH.
Haem degradation and bilirubin metabolism defects v0.0 FECH Zornitza Stark reviewed gene: FECH: Rating: GREEN; Mode of pathogenicity: None; Publications: 20105171, 23016163; Phenotypes: Protoporphyria, erythropoietic, 1, MIM# 177000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1795 FECH Zornitza Stark Marked gene: FECH as ready
Mendeliome v0.1795 FECH Zornitza Stark Added comment: Comment when marking as ready: Evidence for dominant disease is limited. Please note there is a common, hypomorphic deep intronic variant, IVS3-48T-C, as well as an exon 10 deletion reported.
Mendeliome v0.1795 FECH Zornitza Stark Gene: fech has been classified as Green List (High Evidence).
Mendeliome v0.1795 FECH Zornitza Stark Tag SV/CNV tag was added to gene: FECH.
Mitochondrial disease v0.226 SLC39A8 Bryony Thompson gene: SLC39A8 was added
gene: SLC39A8 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A8 were set to 29453449; 27995398
Phenotypes for gene: SLC39A8 were set to Congenital disorder of glycosylation, type IIn MIM#616721
Review for gene: SLC39A8 was set to AMBER
Added comment: Functional analyses of loss of function variants that have been identified in 3 CDG type II-associated cases and a Leigh-like syndrome mitochondrial disorder case resulted in mitochondrial dysfunction and oxidative stress.
Sources: NHS GMS
Mendeliome v0.1795 FECH Zornitza Stark Phenotypes for gene: FECH were changed from to Protoporphyria, erythropoietic, 1 177000 AR
Mendeliome v0.1794 FECH Zornitza Stark Publications for gene: FECH were set to
Mendeliome v0.1793 FECH Zornitza Stark Mode of inheritance for gene: FECH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1792 FECH Zornitza Stark Tag deep intronic tag was added to gene: FECH.
Cataract v0.29 AICDA Zornitza Stark Marked gene: AICDA as ready
Cataract v0.29 AICDA Zornitza Stark Gene: aicda has been classified as Red List (Low Evidence).
Cataract v0.29 AICDA Zornitza Stark Phenotypes for gene: AICDA were changed from to Immunodeficiency with hyper-IgM, type 2 605258
Cataract v0.28 AICDA Zornitza Stark Publications for gene: AICDA were set to
Cataract v0.27 AICDA Zornitza Stark Classified gene: AICDA as Red List (low evidence)
Cataract v0.27 AICDA Zornitza Stark Gene: aicda has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2473 SPATA5 Zornitza Stark Phenotypes for gene: SPATA5 were changed from Epilepsy, hearing loss, and mental retardation syndrome MIM#616577 to Epilepsy, hearing loss, and mental retardation syndrome MIM#616577
Intellectual disability syndromic and non-syndromic v0.2473 SPATA5 Zornitza Stark Marked gene: SPATA5 as ready
Intellectual disability syndromic and non-syndromic v0.2473 SPATA5 Zornitza Stark Gene: spata5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2473 SPATA5 Zornitza Stark Marked gene: SPATA5 as ready
Intellectual disability syndromic and non-syndromic v0.2473 SPATA5 Zornitza Stark Gene: spata5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2473 SPATA5 Zornitza Stark Phenotypes for gene: SPATA5 were changed from to Epilepsy, hearing loss, and mental retardation syndrome MIM#616577
Intellectual disability syndromic and non-syndromic v0.2472 SPATA5 Zornitza Stark Publications for gene: SPATA5 were set to
Intellectual disability syndromic and non-syndromic v0.2471 SPATA5 Zornitza Stark Mode of inheritance for gene: SPATA5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2470 SPATA5 Zornitza Stark reviewed gene: SPATA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 30009132, 29343804; Phenotypes: Epilepsy, hearing loss, and mental retardation syndrome MIM#616577; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1792 ADAM17 Zornitza Stark Marked gene: ADAM17 as ready
Mendeliome v0.1792 ADAM17 Zornitza Stark Added comment: Comment when marking as ready: Two families and a mouse model.
Mendeliome v0.1792 ADAM17 Zornitza Stark Gene: adam17 has been classified as Green List (High Evidence).
Mendeliome v0.1792 ADAM17 Zornitza Stark Phenotypes for gene: ADAM17 were changed from to Inflammatory neonatal-onset skin and bowel disease, MIM#614328
Mendeliome v0.1791 ADAM17 Zornitza Stark Publications for gene: ADAM17 were set to
Mendeliome v0.1790 ADAM17 Zornitza Stark Mode of inheritance for gene: ADAM17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1789 ADAM17 Zornitza Stark Classified gene: ADAM17 as Green List (high evidence)
Mendeliome v0.1789 ADAM17 Zornitza Stark Gene: adam17 has been classified as Green List (High Evidence).
Cataract v0.26 ADAM17 Zornitza Stark Marked gene: ADAM17 as ready
Cataract v0.26 ADAM17 Zornitza Stark Gene: adam17 has been classified as Red List (Low Evidence).
Cataract v0.26 ADAM17 Zornitza Stark Phenotypes for gene: ADAM17 were changed from to Inflammatory skin and bowel disease
Cataract v0.25 ADAM17 Zornitza Stark Publications for gene: ADAM17 were set to
Cataract v0.24 ADAM17 Zornitza Stark Mode of inheritance for gene: ADAM17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.23 ADAM17 Zornitza Stark Classified gene: ADAM17 as Red List (low evidence)
Cataract v0.23 ADAM17 Zornitza Stark Gene: adam17 has been classified as Red List (Low Evidence).
Rasopathy v0.15 PTPN11 Zornitza Stark Marked gene: PTPN11 as ready
Rasopathy v0.15 PTPN11 Zornitza Stark Gene: ptpn11 has been classified as Green List (High Evidence).
Rasopathy v0.15 PTPN11 Zornitza Stark Phenotypes for gene: PTPN11 were changed from to LEOPARD syndrome 1, 151100 AD (for reporting use Noonan syndrome with multiple lentigines); Metachondromatosis, 156250 AD; Noonan syndrome 1, 163950 AD; Leukemia, juvenile myelomonocytic, somatic, 607785
Rasopathy v0.14 PTPN11 Zornitza Stark Mode of pathogenicity for gene: PTPN11 was changed from to Other
Rasopathy v0.13 PTPN11 Zornitza Stark Publications for gene: PTPN11 were set to
Rasopathy v0.12 PTPN11 Zornitza Stark Mode of inheritance for gene: PTPN11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.22 CD40LG Lauren Akesson reviewed gene: CD40LG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency with Hyper-IgM type 1; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cataract v0.22 CD3G Lauren Akesson reviewed gene: CD3G: Rating: RED; Mode of pathogenicity: None; Publications: 31921117; Phenotypes: Immunodeficiency 17, CD3 gamma deficient; Mode of inheritance: None
Callosome v0.116 ZNF462 Zornitza Stark Marked gene: ZNF462 as ready
Callosome v0.116 ZNF462 Zornitza Stark Gene: znf462 has been classified as Green List (High Evidence).
Callosome v0.116 ZNF462 Zornitza Stark Phenotypes for gene: ZNF462 were changed from to Weiss-Kruszka syndrome, MIM#618619
Callosome v0.115 ZNF462 Zornitza Stark Publications for gene: ZNF462 were set to
Callosome v0.114 ZNF462 Zornitza Stark Mode of inheritance for gene: ZNF462 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.113 ZNF462 Zornitza Stark reviewed gene: ZNF462: Rating: GREEN; Mode of pathogenicity: None; Publications: 28513610, 31361404; Phenotypes: Weiss-Kruszka syndrome, MIM#618619; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1788 ZNF462 Zornitza Stark Marked gene: ZNF462 as ready
Mendeliome v0.1788 ZNF462 Zornitza Stark Added comment: Comment when marking as ready: Multiple congenital anomaly syndrome characterised by variable but usually mild global developmental delay and common craniofacial abnormalities, including ptosis, abnormal head shape, downslanting palpebral fissures, epicanthal folds, arched eyebrows, and short upturned nose. Many patients have hypotonia and feeding difficulties. A few patients show agenesis of the corpus callosum on brain imaging. Most cases occur sporadically, but there are rare familial cases that show highly variable expressivity in the phenotypic manifestations.
Mendeliome v0.1788 ZNF462 Zornitza Stark Gene: znf462 has been classified as Green List (High Evidence).
Mendeliome v0.1788 ZNF462 Zornitza Stark Publications for gene: ZNF462 were set to 28513610
Mendeliome v0.1787 ZNF462 Zornitza Stark Phenotypes for gene: ZNF462 were changed from to Weiss-Kruszka syndrome, MIM#618619
Mendeliome v0.1786 ZNF462 Zornitza Stark Publications for gene: ZNF462 were set to
Mendeliome v0.1785 ZNF462 Zornitza Stark Mode of inheritance for gene: ZNF462 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1784 HCFC1 Zornitza Stark Marked gene: HCFC1 as ready
Mendeliome v0.1784 HCFC1 Zornitza Stark Gene: hcfc1 has been classified as Green List (High Evidence).
Mendeliome v0.1784 HCFC1 Zornitza Stark Phenotypes for gene: HCFC1 were changed from to Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) 309541
Mendeliome v0.1783 HCFC1 Zornitza Stark Publications for gene: HCFC1 were set to
Mendeliome v0.1782 HCFC1 Zornitza Stark Mode of inheritance for gene: HCFC1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Ichthyosis and Porokeratosis v0.73 NIPAL4 Zornitza Stark Marked gene: NIPAL4 as ready
Ichthyosis and Porokeratosis v0.73 NIPAL4 Zornitza Stark Gene: nipal4 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.73 NIPAL4 Zornitza Stark Phenotypes for gene: NIPAL4 were changed from to Ichthyosis, congenital, autosomal recessive 6, MIM# 612281
Ichthyosis and Porokeratosis v0.72 NIPAL4 Zornitza Stark Publications for gene: NIPAL4 were set to
Ichthyosis and Porokeratosis v0.71 NIPAL4 Zornitza Stark Mode of inheritance for gene: NIPAL4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.22 ADA Zornitza Stark Marked gene: ADA as ready
Cataract v0.22 ADA Zornitza Stark Gene: ada has been classified as Red List (Low Evidence).
Cataract v0.22 ADA Zornitza Stark Phenotypes for gene: ADA were changed from to Severe combined immunodeficiency due to ADA deficiency 102700
Cataract v0.21 ADA Zornitza Stark Mode of inheritance for gene: ADA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.20 ADA Zornitza Stark Classified gene: ADA as Red List (low evidence)
Cataract v0.20 ADA Zornitza Stark Gene: ada has been classified as Red List (Low Evidence).
Mendeliome v0.1781 TFAM Zornitza Stark gene: TFAM was added
gene: TFAM was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: TFAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TFAM were set to 27448789; 29021295; 9500544
Phenotypes for gene: TFAM were set to Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) MIM#617156
Review for gene: TFAM was set to AMBER
Added comment: One consanguineous family segregates a homozygous variant. Tfam knockout mouse has a mitochondrial cardiomyopathy phenotype and severe mtDNA depletion with abolished oxidative phosphorylation.
Sources: NHS GMS
Cataract v0.19 BTK Lauren Akesson reviewed gene: BTK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: X-linked agammaglobulinemia, isolated growth hormone deficiency type III with agammaglobulinemia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1780 TIMM22 Zornitza Stark Marked gene: TIMM22 as ready
Mendeliome v0.1780 TIMM22 Zornitza Stark Gene: timm22 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1780 TIMM22 Zornitza Stark Classified gene: TIMM22 as Amber List (moderate evidence)
Mendeliome v0.1780 TIMM22 Zornitza Stark Gene: timm22 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1779 TIMM22 Zornitza Stark gene: TIMM22 was added
gene: TIMM22 was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: TIMM22 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TIMM22 were set to 30452684
Phenotypes for gene: TIMM22 were set to mitochondrial myopathy; hypotonia; gastroesophageal reflux disease
Review for gene: TIMM22 was set to AMBER
Added comment: One compound heterozygote case identified with supporting in vitro and patient cell functional assays.
Sources: NHS GMS
Mendeliome v0.1778 TIMMDC1 Zornitza Stark Marked gene: TIMMDC1 as ready
Mendeliome v0.1778 TIMMDC1 Zornitza Stark Gene: timmdc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1778 TIMMDC1 Zornitza Stark Tag deep intronic tag was added to gene: TIMMDC1.
Mendeliome v0.1778 TIMMDC1 Zornitza Stark Classified gene: TIMMDC1 as Amber List (moderate evidence)
Mendeliome v0.1778 TIMMDC1 Zornitza Stark Gene: timmdc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1777 TIMMDC1 Zornitza Stark gene: TIMMDC1 was added
gene: TIMMDC1 was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: TIMMDC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TIMMDC1 were set to 28604674; 30981218
Phenotypes for gene: TIMMDC1 were set to Mitochondrial complex I deficiency, nuclear type 31 MIM#618251
Review for gene: TIMMDC1 was set to AMBER
Added comment: A deep intronic variant (c.597-1340A>G, only detectable by WGS) that causes a splicing aberration was identified in a homozygous state in 3 unrelated cases from different ethnic backgrounds. A patient with Leigh-like syndrome had a homozygous stopgain variant in PDHX and a homozygous stopgain variant in TIMMDC1 (p.Arg225*). The TIMMDC1 mutant protein could still rescue complex I assembly in TIMMDC1 knockout cells and the patient’s clinical phenotype was not clearly distinct from that of other patients with the same PDHX defect.
Sources: NHS GMS
Mitochondrial disease v0.225 TIMMDC1 Zornitza Stark Tag deep intronic tag was added to gene: TIMMDC1.
Mendeliome v0.1776 TMEM65 Zornitza Stark Marked gene: TMEM65 as ready
Mendeliome v0.1776 TMEM65 Zornitza Stark Gene: tmem65 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1776 TMEM65 Zornitza Stark Classified gene: TMEM65 as Amber List (moderate evidence)
Mendeliome v0.1776 TMEM65 Zornitza Stark Gene: tmem65 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1775 TMEM65 Zornitza Stark gene: TMEM65 was added
gene: TMEM65 was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: TMEM65 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM65 were set to 28295037
Phenotypes for gene: TMEM65 were set to Mitochondrial encephalomyopathy
Review for gene: TMEM65 was set to AMBER
Added comment: One homozygous case with a mitochondrial encephalomyopathy and functional assays showing the protein is important for mitochondrial respiration and mtDNA copy number maintenance.
Sources: NHS GMS
Cataract v0.19 ANAPC1 Lauren Akesson reviewed gene: ANAPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31303264; Phenotypes: Rothmund-Thomson syndrome type 1; Mode of inheritance: None
Mitochondrial disease v0.225 SLC52A2 Bryony Thompson Marked gene: SLC52A2 as ready
Mitochondrial disease v0.225 SLC52A2 Bryony Thompson Gene: slc52a2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.225 SLC52A2 Bryony Thompson Classified gene: SLC52A2 as Green List (high evidence)
Mitochondrial disease v0.225 SLC52A2 Bryony Thompson Gene: slc52a2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.224 SLC52A2 Bryony Thompson gene: SLC52A2 was added
gene: SLC52A2 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC52A2 were set to 29053833; 29193829
Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2 MIM#614707
Review for gene: SLC52A2 was set to GREEN
Added comment: The phenotype of at least 7 cases resembles a phenotype similar to mitochondrial disorders, electron transport chain complex I and complex II activity were decreased in SLC52A2 patient fibroblasts, and Drosophila model implicates mitochondrial dysfunction as a downstream consequence of riboflavin transporter gene defects.
Sources: NHS GMS
Mitochondrial disease v0.223 SLC52A3 Bryony Thompson Marked gene: SLC52A3 as ready
Mitochondrial disease v0.223 SLC52A3 Bryony Thompson Gene: slc52a3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.223 SLC52A3 Bryony Thompson Classified gene: SLC52A3 as Green List (high evidence)
Mitochondrial disease v0.223 SLC52A3 Bryony Thompson Gene: slc52a3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.222 SLC52A3 Bryony Thompson gene: SLC52A3 was added
gene: SLC52A3 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC52A3 were set to 29053833; 29193829
Phenotypes for gene: SLC52A3 were set to Brown-Vialetto-Van Laere syndrome 1 MIM#211530
Review for gene: SLC52A3 was set to GREEN
Added comment: The phenotype of >10 cases resembles a phenotype similar to mitochondrial disorders and Drosophila model implicates mitochondrial dysfunction as a downstream consequence of riboflavin transporter gene defects.
Sources: NHS GMS
Mendeliome v0.1774 FECH Michelle Torres reviewed gene: FECH: Rating: GREEN; Mode of pathogenicity: None; Publications: 20105171, 23016163; Phenotypes: Protoporphyria, erythropoietic, 1 177000 AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Cataract v0.19 AICDA Lauren Akesson reviewed gene: AICDA: Rating: RED; Mode of pathogenicity: None; Publications: 11007475, 27789066, 27142677, 19575287; Phenotypes: ; Mode of inheritance: None
Mitochondrial disease v0.221 SPATA5 Bryony Thompson Marked gene: SPATA5 as ready
Mitochondrial disease v0.221 SPATA5 Bryony Thompson Gene: spata5 has been classified as Green List (High Evidence).
Mitochondrial disease v0.221 SPATA5 Bryony Thompson Classified gene: SPATA5 as Green List (high evidence)
Mitochondrial disease v0.221 SPATA5 Bryony Thompson Gene: spata5 has been classified as Green List (High Evidence).
Mitochondrial disease v0.220 SPATA5 Bryony Thompson gene: SPATA5 was added
gene: SPATA5 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA5 were set to 30009132; 29343804
Phenotypes for gene: SPATA5 were set to Epilepsy, hearing loss, and mental retardation syndrome MIM#616577
Review for gene: SPATA5 was set to GREEN
Added comment: At least five cases with biallelic variants had a clinical presentation resembling a mitochondrial disorder. Functional assays showed SPATA5-deficient neurons had a significant imbalance in the mitochondrial fusion-fission rate, impaired energy production and short axons.
Sources: NHS GMS
Mendeliome v0.1774 ADAM17 Lauren Akesson reviewed gene: ADAM17: Rating: AMBER; Mode of pathogenicity: None; Publications: 22010916, 25804906, 21041656, 22236242; Phenotypes: Inflammatory neonatal-onset skin and bowel disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.19 ADAM17 Lauren Akesson edited their review of gene: ADAM17: Changed publications: 22010916, 25804906, 21041656, 22236242
Cataract v0.19 ADAM17 Lauren Akesson reviewed gene: ADAM17: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Inflammatory skin and bowel disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.219 SSBP1 Bryony Thompson Marked gene: SSBP1 as ready
Mitochondrial disease v0.219 SSBP1 Bryony Thompson Gene: ssbp1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.219 SSBP1 Bryony Thompson Classified gene: SSBP1 as Green List (high evidence)
Mitochondrial disease v0.219 SSBP1 Bryony Thompson Added comment: Comment on list classification: Cases associated with mtDNA depletion without accumulation of multiple deletions
Mitochondrial disease v0.219 SSBP1 Bryony Thompson Gene: ssbp1 has been classified as Green List (High Evidence).
Optic Atrophy v0.11 SSBP1 Bryony Thompson Classified gene: SSBP1 as Green List (high evidence)
Optic Atrophy v0.11 SSBP1 Bryony Thompson Gene: ssbp1 has been classified as Green List (High Evidence).
Optic Atrophy v0.10 SSBP1 Bryony Thompson gene: SSBP1 was added
gene: SSBP1 was added to Optic Atrophy. Sources: NHS GMS
Mode of inheritance for gene: SSBP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SSBP1 were set to 31298765; 31479473; 31550237; 31550240
Phenotypes for gene: SSBP1 were set to Optic atrophy with or without extraocular phenotypes
Review for gene: SSBP1 was set to GREEN
Added comment: At least 9 dominant families/cases and 1 recessive with optic atrophy with/without additional clinical features, including retinal macular dystrophy, sensorineural deafness, mitochondrial myopathy, and kidney failure. Supporting evidence in functional assays and zebrafish model.
Sources: NHS GMS
Rasopathy v0.11 PTPN11 Michelle Torres reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 11992261, PMID: 21533187, PMID: 24935154; Phenotypes: LEOPARD syndrome 1, 151100 AD (for reporting use Noonan syndrome with multiple lentigines), Metachondromatosis, 156250 AD, Noonan syndrome 1, 163950 AD, Leukemia, juvenile myelomonocytic, somatic, 607785; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.1774 SSBP1 Bryony Thompson Marked gene: SSBP1 as ready
Mendeliome v0.1774 SSBP1 Bryony Thompson Gene: ssbp1 has been classified as Green List (High Evidence).
Mendeliome v0.1774 SSBP1 Bryony Thompson Classified gene: SSBP1 as Green List (high evidence)
Mendeliome v0.1774 SSBP1 Bryony Thompson Gene: ssbp1 has been classified as Green List (High Evidence).
Mendeliome v0.1773 SSBP1 Bryony Thompson gene: SSBP1 was added
gene: SSBP1 was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: SSBP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SSBP1 were set to 31298765; 31479473; 31550237; 31550240
Phenotypes for gene: SSBP1 were set to Optic atrophy with or without extraocular phenotypes
Review for gene: SSBP1 was set to GREEN
Added comment: At least 9 dominant families/cases and 1 recessive with optic atrophy with/without additional clinical features, including retinal macular dystrophy, sensorineural deafness, mitochondrial myopathy, and kidney failure. Supporting evidence in functional assays and zebrafish model.
Sources: NHS GMS
Mitochondrial disease v0.218 SSBP1 Bryony Thompson gene: SSBP1 was added
gene: SSBP1 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: SSBP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SSBP1 were set to 31298765; 31479473; 31550237; 31550240
Phenotypes for gene: SSBP1 were set to Optic atrophy with or without extraocular phenotypes
Review for gene: SSBP1 was set to GREEN
Added comment: At least 9 dominant families/cases and 1 recessive with optic atrophy with/without additional clinical features, including retinal macular dystrophy, sensorineural deafness, mitochondrial myopathy, and kidney failure. Supporting evidence in functional assays and zebrafish model.
Sources: NHS GMS
Mendeliome v0.1772 ZNF462 Elena Savva reviewed gene: ZNF462: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28513610; Phenotypes: Weiss-Kruszka syndrome, 618619; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.1772 HCFC1 Elena Savva reviewed gene: HCFC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23000143; Phenotypes: Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) 309541; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Ichthyosis and Porokeratosis v0.70 NIPAL4 Michelle Torres reviewed gene: NIPAL4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17557927; Phenotypes: Ichthyosis, congenital, autosomal recessive 6 612281 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Cataract v0.19 ADA Lauren Akesson reviewed gene: ADA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: SCID-ADA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.217 TFAM Bryony Thompson Marked gene: TFAM as ready
Mitochondrial disease v0.217 TFAM Bryony Thompson Gene: tfam has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.217 TFAM Bryony Thompson Classified gene: TFAM as Amber List (moderate evidence)
Mitochondrial disease v0.217 TFAM Bryony Thompson Gene: tfam has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.216 TFAM Bryony Thompson gene: TFAM was added
gene: TFAM was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: TFAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TFAM were set to 27448789; 29021295; 9500544
Phenotypes for gene: TFAM were set to Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) MIM#617156
Review for gene: TFAM was set to AMBER
Added comment: One consanguineous family segregates a homozygous variant. Tfam knockout mouse has a mitochondrial cardiomyopathy phenotype and severe mtDNA depletion with abolished oxidative phosphorylation.
Sources: NHS GMS
Mitochondrial disease v0.215 TIMM22 Bryony Thompson Classified gene: TIMM22 as Amber List (moderate evidence)
Mitochondrial disease v0.215 TIMM22 Bryony Thompson Gene: timm22 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.214 TIMM22 Bryony Thompson changed review comment from: One compound heterozygote case identified with supporting in vitro and patient cell functional assays.
Sources: NHS GMS; to: One compound heterozygote case identified with supporting in vitro and patient cell functional assays. No OMIM phenotype recorded.
Sources: NHS GMS
Mitochondrial disease v0.214 TIMM22 Bryony Thompson gene: TIMM22 was added
gene: TIMM22 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: TIMM22 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TIMM22 were set to 30452684
Phenotypes for gene: TIMM22 were set to hypotonia; gastroesophageal reflux disease
Review for gene: TIMM22 was set to AMBER
Added comment: One compound heterozygote case identified with supporting in vitro and patient cell functional assays.
Sources: NHS GMS
Mitochondrial disease v0.213 TIMMDC1 Bryony Thompson Classified gene: TIMMDC1 as Amber List (moderate evidence)
Mitochondrial disease v0.213 TIMMDC1 Bryony Thompson Gene: timmdc1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.212 TIMMDC1 Bryony Thompson gene: TIMMDC1 was added
gene: TIMMDC1 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: TIMMDC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TIMMDC1 were set to 28604674; 30981218
Phenotypes for gene: TIMMDC1 were set to Mitochondrial complex I deficiency, nuclear type 31 MIM#618251
Review for gene: TIMMDC1 was set to AMBER
Added comment: A deep intronic variant (c.597-1340A>G, only detectable by WGS) that causes a splicing aberration was identified in a homozygous state in 3 unrelated cases from different ethnic backgrounds. A patient with Leigh-like syndrome had a homozygous stopgain variant in PDHX and a homozygous stopgain variant in TIMMDC1 (p.Arg225*). The TIMMDC1 mutant protein could still rescue complex I assembly in TIMMDC1 knockout cells and the patient’s clinical phenotype was not clearly distinct from that of other patients with the same PDHX defect.
Sources: NHS GMS
Mitochondrial disease v0.211 TMEM65 Bryony Thompson Classified gene: TMEM65 as Amber List (moderate evidence)
Mitochondrial disease v0.211 TMEM65 Bryony Thompson Gene: tmem65 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.210 TMEM65 Bryony Thompson edited their review of gene: TMEM65: Changed rating: AMBER
Mitochondrial disease v0.210 TMEM65 Bryony Thompson changed review comment from: One homozygous case with a mitochondrial encephalomyopathy and functional assays showing the protein is important for mitochondrial respiration and mtDNA copy number maintenance. Currently no OMIM or Gene2Phenotype phenotype entries.
Sources: NHS GMS; to: One homozygous case with a mitochondrial encephalomyopathy and functional assays showing the protein is important for mitochondrial respiration and mtDNA copy number maintenance. Currently no OMIM or Gene2Phenotype phenotype entries.
Sources: NHS GMS
Mitochondrial disease v0.210 TMEM65 Bryony Thompson gene: TMEM65 was added
gene: TMEM65 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: TMEM65 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM65 were set to 28295037
Phenotypes for gene: TMEM65 were set to Mitochondrial encephalomyopathy
Added comment: One homozygous case with a mitochondrial encephalomyopathy and functional assays showing the protein is important for mitochondrial respiration and mtDNA copy number maintenance. Currently no OMIM or Gene2Phenotype phenotype entries.
Sources: NHS GMS
Mendeliome v0.1772 COX6A2 Zornitza Stark Marked gene: COX6A2 as ready
Mendeliome v0.1772 COX6A2 Zornitza Stark Gene: cox6a2 has been classified as Green List (High Evidence).
Mendeliome v0.1772 COX6A2 Zornitza Stark Classified gene: COX6A2 as Green List (high evidence)
Mendeliome v0.1772 COX6A2 Zornitza Stark Gene: cox6a2 has been classified as Green List (High Evidence).
Mendeliome v0.1771 COX6A2 Zornitza Stark gene: COX6A2 was added
gene: COX6A2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: COX6A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX6A2 were set to 31155743; 23460811
Phenotypes for gene: COX6A2 were set to Mitochondrial complex IV deficiency, MIM# 220110
Review for gene: COX6A2 was set to GREEN
Added comment: Two unrelated families and two mouse models.
Sources: Expert list
Mitochondrial disease v0.209 COX6A2 Zornitza Stark Classified gene: COX6A2 as Green List (high evidence)
Mitochondrial disease v0.209 COX6A2 Zornitza Stark Gene: cox6a2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.209 COX6A2 Zornitza Stark Marked gene: COX6A2 as ready
Mitochondrial disease v0.209 COX6A2 Zornitza Stark Gene: cox6a2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.209 COX6A2 Zornitza Stark Classified gene: COX6A2 as Green List (high evidence)
Mitochondrial disease v0.209 COX6A2 Zornitza Stark Gene: cox6a2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.208 COX6A2 Zornitza Stark gene: COX6A2 was added
gene: COX6A2 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: COX6A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX6A2 were set to 31155743; 23460811
Phenotypes for gene: COX6A2 were set to Mitochondrial complex IV deficiency, MIM# 220110
Review for gene: COX6A2 was set to GREEN
Added comment: Two unrelated families and two mouse models.
Sources: Expert list
Mitochondrial disease v0.207 USMG5 Bryony Thompson Classified gene: USMG5 as Amber List (moderate evidence)
Mitochondrial disease v0.207 USMG5 Bryony Thompson Added comment: Comment on list classification: Currently only one potential Ashkenazi Jewish founder reported so far.
Mitochondrial disease v0.207 USMG5 Bryony Thompson Gene: usmg5 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.207 USMG5 Bryony Thompson Classified gene: USMG5 as Amber List (moderate evidence)
Mitochondrial disease v0.207 USMG5 Bryony Thompson Added comment: Comment on list classification: Currently only one potential Ashkenazi Jewish founder reported so far.
Mitochondrial disease v0.207 USMG5 Bryony Thompson Gene: usmg5 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.206 USMG5 Bryony Thompson gene: USMG5 was added
gene: USMG5 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: USMG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USMG5 were set to 29917077; 30240627
Phenotypes for gene: USMG5 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6 MIM#618683
Review for gene: USMG5 was set to AMBER
Added comment: A homozygous splice site mutation in 4 patients from 3 unrelated families of Ashkenazi Jewish descent. Experimental analyses demonstrated that the splice variant leads to loss of protein expression and haplotype analysis suggested a founder effect. In situ cryo-ET analysis of the mitochondria of a homozygous affected case showed profound disturbances of mitochondrial crista ultrastructure.
Sources: NHS GMS
Mitochondrial disease v0.205 APTX Zornitza Stark Marked gene: APTX as ready
Mitochondrial disease v0.205 APTX Zornitza Stark Gene: aptx has been classified as Green List (High Evidence).
Mitochondrial disease v0.205 COA7 Zornitza Stark Marked gene: COA7 as ready
Mitochondrial disease v0.205 COA7 Zornitza Stark Gene: coa7 has been classified as Green List (High Evidence).
Mitochondrial disease v0.205 COQ7 Zornitza Stark Marked gene: COQ7 as ready
Mitochondrial disease v0.205 COQ7 Zornitza Stark Gene: coq7 has been classified as Green List (High Evidence).
Mitochondrial disease v0.205 ETFDH Zornitza Stark Marked gene: ETFDH as ready
Mitochondrial disease v0.205 ETFDH Zornitza Stark Gene: etfdh has been classified as Green List (High Evidence).
Mitochondrial disease v0.205 MRPS34 Zornitza Stark Marked gene: MRPS34 as ready
Mitochondrial disease v0.205 MRPS34 Zornitza Stark Gene: mrps34 has been classified as Green List (High Evidence).
Mitochondrial disease v0.205 ATP5A1 Zornitza Stark Marked gene: ATP5A1 as ready
Mitochondrial disease v0.205 ATP5A1 Zornitza Stark Gene: atp5a1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.205 ATP5A1 Zornitza Stark Phenotypes for gene: ATP5A1 were changed from to Combined oxidative phosphorylation deficiency 22 616045; Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228
Mitochondrial disease v0.204 ATP5A1 Zornitza Stark Publications for gene: ATP5A1 were set to
Mitochondrial disease v0.203 TARS2 Zornitza Stark Marked gene: TARS2 as ready
Mitochondrial disease v0.203 TARS2 Zornitza Stark Gene: tars2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.203 ATP5E Zornitza Stark Marked gene: ATP5E as ready
Mitochondrial disease v0.203 ATP5E Zornitza Stark Gene: atp5e has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.203 ATP5E Zornitza Stark Phenotypes for gene: ATP5E were changed from to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053
Mitochondrial disease v0.202 ATP5E Zornitza Stark Publications for gene: ATP5E were set to
Mitochondrial disease v0.201 ATP5E Zornitza Stark Mode of inheritance for gene: ATP5E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.200 Zornitza Stark Panel types changed to Australian Genomics; Victorian Clinical Genetics Services; Royal Melbourne Hospital
Mendeliome v0.1770 YME1L1 Zornitza Stark Marked gene: YME1L1 as ready
Mendeliome v0.1770 YME1L1 Zornitza Stark Gene: yme1l1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1770 YME1L1 Zornitza Stark Classified gene: YME1L1 as Amber List (moderate evidence)
Mendeliome v0.1770 YME1L1 Zornitza Stark Gene: yme1l1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1769 YME1L1 Zornitza Stark gene: YME1L1 was added
gene: YME1L1 was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: YME1L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YME1L1 were set to 30544562; 27495975
Phenotypes for gene: YME1L1 were set to Optic atrophy 11, MIM#617302
Review for gene: YME1L1 was set to AMBER
Added comment: One consanguineous family with a homozygous variant and functional assays. YME1L leads to mitochondrial fragmentation and severely disorganized and attenuated cristae architecture in in vitro functional assays.
Sources: NHS GMS
Mitochondrial disease v0.199 COQ5 Zornitza Stark Marked gene: COQ5 as ready
Mitochondrial disease v0.199 COQ5 Zornitza Stark Gene: coq5 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.199 COQ5 Zornitza Stark gene: COQ5 was added
gene: COQ5 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: COQ5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ5 were set to 29044765
Phenotypes for gene: COQ5 were set to Cerebellar ataxia; encephalopathy; generalized tonic-clonic seizures; intellectual disability
Review for gene: COQ5 was set to RED
Added comment: Three siblings reported, bi-allelic duplications in gene, said to lead to reduced CoQ10.
Sources: Expert list
Mitochondrial disease v0.198 CEP89 Zornitza Stark edited their review of gene: CEP89: Changed rating: RED
Mitochondrial disease v0.198 YME1L1 Bryony Thompson Classified gene: YME1L1 as Amber List (moderate evidence)
Mitochondrial disease v0.198 YME1L1 Bryony Thompson Gene: yme1l1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.198 YME1L1 Bryony Thompson Classified gene: YME1L1 as Amber List (moderate evidence)
Mitochondrial disease v0.198 YME1L1 Bryony Thompson Gene: yme1l1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.197 YME1L1 Bryony Thompson Marked gene: YME1L1 as ready
Mitochondrial disease v0.197 YME1L1 Bryony Thompson Gene: yme1l1 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.197 YME1L1 Bryony Thompson gene: YME1L1 was added
gene: YME1L1 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: YME1L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YME1L1 were set to 30544562; 27495975
Phenotypes for gene: YME1L1 were set to Optic atrophy 11 MIM#617302
Review for gene: YME1L1 was set to AMBER
Added comment: One consanguineous family with a homozygous variant and functional assays. YME1L leads to mitochondrial fragmentation and severely disorganized and attenuated cristae architecture in in vitro functional assays.
Sources: NHS GMS
Mendeliome v0.1767 Bryony Thompson removed gene:ANXA11 from the panel
Mendeliome v0.1766 ANXA11 Bryony Thompson gene: ANXA11 was added
gene: ANXA11 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ANXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANXA11 were set to 28469040; 29845112; 30109997
Phenotypes for gene: ANXA11 were set to Amytrophic lateral sclerosis 23 MIM#617839
Review for gene: ANXA11 was set to GREEN
Added comment: 4 different missense variants in 10 patients from 7 unrelated families with amyotrophic lateral sclerosis and functional assays supporting association.
Sources: Expert list
Motor Neurone Disease v0.12 ANXA11 Bryony Thompson gene: ANXA11 was added
gene: ANXA11 was added to Motor Neuron Disease. Sources: Expert list
Mode of inheritance for gene: ANXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANXA11 were set to 28469040; 29845112; 30109997
Phenotypes for gene: ANXA11 were set to Amytrophic lateral sclerosis 23 MIM#617839
Review for gene: ANXA11 was set to GREEN
Added comment: 4 different missense variants in 10 patients from 7 unrelated families with amyotrophic lateral sclerosis and functional assays supporting association.
Sources: Expert list
Motor Neurone Disease v0.11 AIFM1 Bryony Thompson Classified gene: AIFM1 as Red List (low evidence)
Motor Neurone Disease v0.11 AIFM1 Bryony Thompson Added comment: Comment on list classification: Motor neuron degeneration is not a prominent feature of the condition. Only one case reported.
Motor Neurone Disease v0.11 AIFM1 Bryony Thompson Gene: aifm1 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.329 PLOD3 Zornitza Stark Marked gene: PLOD3 as ready
Deafness_IsolatedAndComplex v0.329 PLOD3 Zornitza Stark Gene: plod3 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.329 PLOD3 Zornitza Stark Classified gene: PLOD3 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.329 PLOD3 Zornitza Stark Gene: plod3 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.328 PLOD3 Lauren Akesson gene: PLOD3 was added
gene: PLOD3 was added to Deafness. Sources: Literature
Mode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLOD3 were set to 18834968; 31129566
Phenotypes for gene: PLOD3 were set to Sensorineural deafness
Penetrance for gene: PLOD3 were set to unknown
Review for gene: PLOD3 was set to GREEN
Added comment: This gene has a complex phenotype that includes features of a connective tissue disorder; 3/5 described unrelated families have sensorineural deafness as a feature (PMID as above plus an abstract from 2013 ESHG by Steichen-Gersdorf et al). At least one proband has required cochlear implantation.
Sources: Literature
Stickler Syndrome v0.3 PLOD3 Zornitza Stark Marked gene: PLOD3 as ready
Stickler Syndrome v0.3 PLOD3 Zornitza Stark Gene: plod3 has been classified as Green List (High Evidence).
Stickler Syndrome v0.3 PLOD3 Zornitza Stark Classified gene: PLOD3 as Green List (high evidence)
Stickler Syndrome v0.3 PLOD3 Zornitza Stark Gene: plod3 has been classified as Green List (High Evidence).
Cataract v0.19 PLOD3 Zornitza Stark Marked gene: PLOD3 as ready
Cataract v0.19 PLOD3 Zornitza Stark Added comment: Comment when marking as ready: Borderline Green, unclear at present what proportion of affected individuals will have cataract as part of the phenotype.
Cataract v0.19 PLOD3 Zornitza Stark Gene: plod3 has been classified as Green List (High Evidence).
Cataract v0.19 PLOD3 Zornitza Stark Classified gene: PLOD3 as Green List (high evidence)
Cataract v0.19 PLOD3 Zornitza Stark Gene: plod3 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.24 PLOD3 Zornitza Stark Marked gene: PLOD3 as ready
Epidermolysis bullosa v0.24 PLOD3 Zornitza Stark Added comment: Comment when marking as ready: Agree, at present unclear what proportion of affected individuals have EB phenotype.
Epidermolysis bullosa v0.24 PLOD3 Zornitza Stark Gene: plod3 has been classified as Amber List (Moderate Evidence).
Epidermolysis bullosa v0.24 PLOD3 Zornitza Stark Classified gene: PLOD3 as Amber List (moderate evidence)
Epidermolysis bullosa v0.24 PLOD3 Zornitza Stark Gene: plod3 has been classified as Amber List (Moderate Evidence).
Stickler Syndrome v0.2 PLOD3 Lauren Akesson gene: PLOD3 was added
gene: PLOD3 was added to Stickler Syndrome. Sources: Literature
Mode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLOD3 were set to 18834968; 30237576; 30463024; 31129566
Phenotypes for gene: PLOD3 were set to Stickler-like phenotype with high myopia, midface hypoplasia, microretrognathia
Penetrance for gene: PLOD3 were set to unknown
Review for gene: PLOD3 was set to GREEN
Added comment: Complex phenotype that includes features of a Stickler-like syndrome.
High myopia described in 3/5 described unrelated families
One description of retinal detachment
Facial dysmorphism with midface hypoplasia, microretrognathia

Other features include developmental delay and sensorineural hearing loss
Sources: Literature
Cataract v0.18 PLOD3 Lauren Akesson gene: PLOD3 was added
gene: PLOD3 was added to Cataract. Sources: Literature
Mode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLOD3 were set to 18834968; 30463024; 31129566
Phenotypes for gene: PLOD3 were set to cataract
Penetrance for gene: PLOD3 were set to unknown
Review for gene: PLOD3 was set to GREEN
Added comment: Complex phenotype that includes cataracts in 3/5 described unrelated families
Sources: Literature
Epidermolysis bullosa v0.23 PLOD3 Lauren Akesson gene: PLOD3 was added
gene: PLOD3 was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLOD3 were set to 18834968; 30463024
Phenotypes for gene: PLOD3 were set to Blistering skin lesions
Penetrance for gene: PLOD3 were set to unknown
Review for gene: PLOD3 was set to AMBER
Added comment: Two unrelated families with complex phenotype
-18834968 with global developmental delay, facial dysmorphism, myopia, skeletal changes, blistering of toes, fingers and pinnae from infancy to age 5 years
- 30463024 with developmental delay, facial dysmorphism, myopia, diaphragmatic eventration, skeletal changes, haemorrhagic blisters and erosions

- A further 3 families with biallelic variants in this gene also had a complex phenotype that did not include blistering skin

As there are only two unrelated families with Epidermolysis Bullosa-like skin changes, this gene does not meet criteria for a gene-disease association.
Sources: Literature
Mendeliome v0.1765 UQCRQ Zornitza Stark Marked gene: UQCRQ as ready
Mendeliome v0.1765 UQCRQ Zornitza Stark Gene: uqcrq has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.196 VPS13C Zornitza Stark Marked gene: VPS13C as ready
Mitochondrial disease v0.196 VPS13C Zornitza Stark Gene: vps13c has been classified as Green List (High Evidence).
Mitochondrial disease v0.196 VPS13C Zornitza Stark Phenotypes for gene: VPS13C were changed from to Early-onset Parkinson disease-23, MIM# 616840
Mitochondrial disease v0.195 VPS13C Zornitza Stark Publications for gene: VPS13C were set to
Mitochondrial disease v0.194 VPS13C Zornitza Stark Mode of inheritance for gene: VPS13C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.193 VPS13C Zornitza Stark reviewed gene: VPS13C: Rating: GREEN; Mode of pathogenicity: None; Publications: 26942284; Phenotypes: Early-onset Parkinson disease-23, MIM# 616840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1765 UQCRQ Zornitza Stark Phenotypes for gene: UQCRQ were changed from to Mitochondrial complex III deficiency, nuclear type 4, MIM# 615159
Mendeliome v0.1764 UQCRQ Zornitza Stark Publications for gene: UQCRQ were set to
Mendeliome v0.1763 UQCRQ Zornitza Stark Mode of inheritance for gene: UQCRQ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1762 UQCRQ Zornitza Stark Classified gene: UQCRQ as Amber List (moderate evidence)
Mendeliome v0.1762 UQCRQ Zornitza Stark Gene: uqcrq has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1761 UQCRQ Zornitza Stark reviewed gene: UQCRQ: Rating: AMBER; Mode of pathogenicity: None; Publications: 18439546; Phenotypes: Mitochondrial complex III deficiency, nuclear type 4, MIM# 615159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.113 UQCRQ Zornitza Stark Marked gene: UQCRQ as ready
Callosome v0.113 UQCRQ Zornitza Stark Gene: uqcrq has been classified as Red List (Low Evidence).
Callosome v0.113 UQCRQ Zornitza Stark Phenotypes for gene: UQCRQ were changed from to Mitochondrial complex III deficiency, nuclear type 4, MIM# 615159
Mitochondrial disease v0.193 UQCRQ Zornitza Stark Marked gene: UQCRQ as ready
Mitochondrial disease v0.193 UQCRQ Zornitza Stark Gene: uqcrq has been classified as Amber List (Moderate Evidence).
Callosome v0.112 UQCRQ Zornitza Stark Publications for gene: UQCRQ were set to
Mitochondrial disease v0.193 UQCRQ Zornitza Stark Phenotypes for gene: UQCRQ were changed from to Mitochondrial complex III deficiency, nuclear type 4, MIM# 615159
Callosome v0.111 UQCRQ Zornitza Stark Mode of inheritance for gene: UQCRQ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.110 UQCRQ Zornitza Stark Classified gene: UQCRQ as Red List (low evidence)
Callosome v0.110 UQCRQ Zornitza Stark Gene: uqcrq has been classified as Red List (Low Evidence).
Callosome v0.109 UQCRQ Zornitza Stark reviewed gene: UQCRQ: Rating: RED; Mode of pathogenicity: None; Publications: 18439546; Phenotypes: Mitochondrial complex III deficiency, nuclear type 4, MIM# 615159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.192 UQCRQ Zornitza Stark Publications for gene: UQCRQ were set to
Mitochondrial disease v0.191 UQCRQ Zornitza Stark Mode of inheritance for gene: UQCRQ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.190 UQCRQ Zornitza Stark Classified gene: UQCRQ as Amber List (moderate evidence)
Mitochondrial disease v0.190 UQCRQ Zornitza Stark Gene: uqcrq has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.189 UQCRQ Zornitza Stark reviewed gene: UQCRQ: Rating: AMBER; Mode of pathogenicity: None; Publications: 18439546; Phenotypes: Mitochondrial complex III deficiency, nuclear type 4, MIM# 615159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1761 UQCRC2 Zornitza Stark Marked gene: UQCRC2 as ready
Mendeliome v0.1761 UQCRC2 Zornitza Stark Gene: uqcrc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1761 UQCRC2 Zornitza Stark Phenotypes for gene: UQCRC2 were changed from to Mitochondrial complex III deficiency, nuclear type 5, MIM# 615160
Mendeliome v0.1760 UQCRC2 Zornitza Stark Publications for gene: UQCRC2 were set to
Mendeliome v0.1759 UQCRC2 Zornitza Stark Mode of inheritance for gene: UQCRC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1758 UQCRC2 Zornitza Stark Classified gene: UQCRC2 as Amber List (moderate evidence)
Mendeliome v0.1758 UQCRC2 Zornitza Stark Gene: uqcrc2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.189 UQCRC2 Zornitza Stark Marked gene: UQCRC2 as ready
Mitochondrial disease v0.189 UQCRC2 Zornitza Stark Gene: uqcrc2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.189 UQCRC2 Zornitza Stark Phenotypes for gene: UQCRC2 were changed from to Mitochondrial complex III deficiency, nuclear type 5, MIM# 615160
Mendeliome v0.1757 UQCRC2 Zornitza Stark reviewed gene: UQCRC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28275242, 23281071; Phenotypes: Mitochondrial complex III deficiency, nuclear type 5, MIM# 615160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.188 UQCRC2 Zornitza Stark Publications for gene: UQCRC2 were set to
Mitochondrial disease v0.187 UQCRC2 Zornitza Stark Classified gene: UQCRC2 as Amber List (moderate evidence)
Mitochondrial disease v0.187 UQCRC2 Zornitza Stark Gene: uqcrc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1757 UQCC3 Zornitza Stark Marked gene: UQCC3 as ready
Mendeliome v0.1757 UQCC3 Zornitza Stark Gene: uqcc3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.186 UQCRC2 Zornitza Stark reviewed gene: UQCRC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28275242, 23281071; Phenotypes: Mitochondrial complex III deficiency, nuclear type 5, MIM# 615160; Mode of inheritance: None
Mendeliome v0.1757 UQCC3 Zornitza Stark Phenotypes for gene: UQCC3 were changed from to Mitochondrial complex III deficiency, nuclear type 9, MIM# 616111
Mitochondrial disease v0.186 UQCC3 Zornitza Stark Marked gene: UQCC3 as ready
Mitochondrial disease v0.186 UQCC3 Zornitza Stark Gene: uqcc3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.186 UQCC3 Zornitza Stark Phenotypes for gene: UQCC3 were changed from to Mitochondrial complex III deficiency, nuclear type 9, MIM# 616111
Mendeliome v0.1756 UQCC3 Zornitza Stark Publications for gene: UQCC3 were set to
Mendeliome v0.1755 UQCC3 Zornitza Stark Mode of inheritance for gene: UQCC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1754 UQCC3 Zornitza Stark Classified gene: UQCC3 as Amber List (moderate evidence)
Mendeliome v0.1754 UQCC3 Zornitza Stark Gene: uqcc3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.185 UQCC3 Zornitza Stark Publications for gene: UQCC3 were set to
Mendeliome v0.1753 UQCC3 Zornitza Stark reviewed gene: UQCC3: Rating: AMBER; Mode of pathogenicity: None; Publications: 25008109, 28804536; Phenotypes: Mitochondrial complex III deficiency, nuclear type 9, MIM# 616111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.184 UQCC3 Zornitza Stark Mode of inheritance for gene: UQCC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.183 UQCC3 Zornitza Stark Classified gene: UQCC3 as Amber List (moderate evidence)
Mitochondrial disease v0.183 UQCC3 Zornitza Stark Gene: uqcc3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.182 UQCC3 Zornitza Stark reviewed gene: UQCC3: Rating: AMBER; Mode of pathogenicity: None; Publications: 25008109, 28804536; Phenotypes: Mitochondrial complex III deficiency, nuclear type 9, MIM# 616111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1753 TXN2 Zornitza Stark Marked gene: TXN2 as ready
Mendeliome v0.1753 TXN2 Zornitza Stark Gene: txn2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1753 TXN2 Zornitza Stark Phenotypes for gene: TXN2 were changed from to Combined oxidative phosphorylation deficiency 29, MIM# 616811
Mitochondrial disease v0.182 TXN2 Zornitza Stark Marked gene: TXN2 as ready
Mitochondrial disease v0.182 TXN2 Zornitza Stark Gene: txn2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.182 TXN2 Zornitza Stark Phenotypes for gene: TXN2 were changed from to Combined oxidative phosphorylation deficiency 29, MIM# 616811
Mendeliome v0.1752 TXN2 Zornitza Stark Publications for gene: TXN2 were set to
Mitochondrial disease v0.181 TXN2 Zornitza Stark Publications for gene: TXN2 were set to
Mendeliome v0.1751 TXN2 Zornitza Stark Mode of inheritance for gene: TXN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1750 TXN2 Zornitza Stark Classified gene: TXN2 as Amber List (moderate evidence)
Mendeliome v0.1750 TXN2 Zornitza Stark Gene: txn2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1749 TXN2 Zornitza Stark reviewed gene: TXN2: Rating: AMBER; Mode of pathogenicity: None; Publications: 26626369, 12529397; Phenotypes: Combined oxidative phosphorylation deficiency 29, MIM# 616811; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.180 TXN2 Zornitza Stark Mode of inheritance for gene: TXN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.179 TXN2 Zornitza Stark Classified gene: TXN2 as Amber List (moderate evidence)
Mitochondrial disease v0.179 TXN2 Zornitza Stark Gene: txn2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.178 TXN2 Zornitza Stark reviewed gene: TXN2: Rating: AMBER; Mode of pathogenicity: None; Publications: 26626369, 12529397; Phenotypes: Combined oxidative phosphorylation deficiency 29, MIM# 616811; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1749 TARS2 Zornitza Stark Marked gene: TARS2 as ready
Mendeliome v0.1749 TARS2 Zornitza Stark Gene: tars2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1749 TARS2 Zornitza Stark Phenotypes for gene: TARS2 were changed from to Combined oxidative phosphorylation deficiency 21, MIM# 615918
Mendeliome v0.1748 TARS2 Zornitza Stark Publications for gene: TARS2 were set to
Mendeliome v0.1747 TARS2 Zornitza Stark Mode of inheritance for gene: TARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1746 TARS2 Zornitza Stark Classified gene: TARS2 as Amber List (moderate evidence)
Mendeliome v0.1746 TARS2 Zornitza Stark Gene: tars2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1745 TARS2 Zornitza Stark reviewed gene: TARS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24827421, 26811336; Phenotypes: Combined oxidative phosphorylation deficiency 21, MIM# 615918; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.178 TARS2 Zornitza Stark Phenotypes for gene: TARS2 were changed from to Combined oxidative phosphorylation deficiency 21, MIM# 615918
Mitochondrial disease v0.177 TARS2 Zornitza Stark Publications for gene: TARS2 were set to
Mitochondrial disease v0.176 TARS2 Zornitza Stark Mode of inheritance for gene: TARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.175 TARS2 Zornitza Stark Classified gene: TARS2 as Amber List (moderate evidence)
Mitochondrial disease v0.175 TARS2 Zornitza Stark Gene: tars2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.174 TARS2 Zornitza Stark reviewed gene: TARS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24827421, 26811336; Phenotypes: Combined oxidative phosphorylation deficiency 21, MIM# 615918; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.174 STAT2 Zornitza Stark Marked gene: STAT2 as ready
Mitochondrial disease v0.174 STAT2 Zornitza Stark Gene: stat2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.174 STAT2 Zornitza Stark Phenotypes for gene: STAT2 were changed from to Immunodeficiency 44, MIM# 616636
Mitochondrial disease v0.173 STAT2 Zornitza Stark Publications for gene: STAT2 were set to
Mitochondrial disease v0.172 STAT2 Zornitza Stark Mode of inheritance for gene: STAT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.171 STAT2 Zornitza Stark reviewed gene: STAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23391734, 26122121; Phenotypes: Immunodeficiency 44, MIM# 616636; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.171 SLC25A38 Zornitza Stark Marked gene: SLC25A38 as ready
Mitochondrial disease v0.171 SLC25A38 Zornitza Stark Gene: slc25a38 has been classified as Green List (High Evidence).
Mitochondrial disease v0.171 SLC25A38 Zornitza Stark Classified gene: SLC25A38 as Green List (high evidence)
Mitochondrial disease v0.171 SLC25A38 Zornitza Stark Gene: slc25a38 has been classified as Green List (High Evidence).
Mitochondrial disease v0.170 SLC25A38 Zornitza Stark gene: SLC25A38 was added
gene: SLC25A38 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A38 were set to 19412178
Phenotypes for gene: SLC25A38 were set to Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950
Review for gene: SLC25A38 was set to GREEN
Added comment: SLC25A38 belongs to the SLC25 family of mitochondrial carrier proteins. Multiple affected families reported together with an animal model.
Sources: Expert list
Mendeliome v0.1745 SLC25A32 Zornitza Stark Marked gene: SLC25A32 as ready
Mendeliome v0.1745 SLC25A32 Zornitza Stark Gene: slc25a32 has been classified as Green List (High Evidence).
Mendeliome v0.1745 SLC25A32 Zornitza Stark Classified gene: SLC25A32 as Green List (high evidence)
Mendeliome v0.1745 SLC25A32 Zornitza Stark Gene: slc25a32 has been classified as Green List (High Evidence).
Mendeliome v0.1744 SLC25A32 Zornitza Stark gene: SLC25A32 was added
gene: SLC25A32 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SLC25A32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A32 were set to 26933868; 28443623
Phenotypes for gene: SLC25A32 were set to Exercise intolerance, riboflavin-responsive, MIM# 616839
Review for gene: SLC25A32 was set to GREEN
Added comment: Two unrelated families reported with functional data. Muscle biopsy showed ragged-red fibers and lipid storage mainly in type I oxidative fibers, small type II fibers, and poor immunostaining for succinate dehydrogenase (FAD-dependent mitochondrial respiratory chain complex II). Oral supplementation with riboflavin led to dramatic improvement in the clinical and biologic abnormalities.
Sources: Expert list
Mitochondrial disease v0.169 SLC25A32 Zornitza Stark Marked gene: SLC25A32 as ready
Mitochondrial disease v0.169 SLC25A32 Zornitza Stark Gene: slc25a32 has been classified as Green List (High Evidence).
Mitochondrial disease v0.169 SLC25A32 Zornitza Stark Classified gene: SLC25A32 as Green List (high evidence)
Mitochondrial disease v0.169 SLC25A32 Zornitza Stark Gene: slc25a32 has been classified as Green List (High Evidence).
Mitochondrial disease v0.168 SLC25A32 Zornitza Stark gene: SLC25A32 was added
gene: SLC25A32 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: SLC25A32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A32 were set to 26933868; 28443623
Phenotypes for gene: SLC25A32 were set to Exercise intolerance, riboflavin-responsive, MIM# 616839
Review for gene: SLC25A32 was set to GREEN
Added comment: Two unrelated families reported with functional data. Muscle biopsy showed ragged-red fibers and lipid storage mainly in type I oxidative fibers, small type II fibers, and poor immunostaining for succinate dehydrogenase (FAD-dependent mitochondrial respiratory chain complex II). Oral supplementation with riboflavin led to dramatic improvement in the clinical and biologic abnormalities.
Sources: Expert list
Mitochondrial disease v0.167 SDHB Zornitza Stark Marked gene: SDHB as ready
Mitochondrial disease v0.167 SDHB Zornitza Stark Gene: sdhb has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.167 SDHB Zornitza Stark Phenotypes for gene: SDHB were changed from to Complex II deficiency; mitochondrial leucoencephalopathy
Mitochondrial disease v0.166 SDHB Zornitza Stark Publications for gene: SDHB were set to
Mitochondrial disease v0.165 SDHB Zornitza Stark Mode of inheritance for gene: SDHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.164 SDHB Zornitza Stark Classified gene: SDHB as Amber List (moderate evidence)
Mitochondrial disease v0.164 SDHB Zornitza Stark Gene: sdhb has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.163 SDHB Zornitza Stark reviewed gene: SDHB: Rating: AMBER; Mode of pathogenicity: None; Publications: 22972948, 26925370; Phenotypes: Complex II deficiency, mitochondrial leucoencephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.163 SDHAF2 Zornitza Stark Marked gene: SDHAF2 as ready
Mitochondrial disease v0.163 SDHAF2 Zornitza Stark Gene: sdhaf2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.163 SDHAF2 Zornitza Stark Phenotypes for gene: SDHAF2 were changed from to Paragangliomas 2, MIM# 601650
Mitochondrial disease v0.162 SDHAF2 Zornitza Stark Classified gene: SDHAF2 as Red List (low evidence)
Mitochondrial disease v0.162 SDHAF2 Zornitza Stark Gene: sdhaf2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.161 SDHAF2 Zornitza Stark reviewed gene: SDHAF2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 2, MIM# 601650; Mode of inheritance: None
Mitochondrial disease v0.161 SACS Zornitza Stark Marked gene: SACS as ready
Mitochondrial disease v0.161 SACS Zornitza Stark Gene: sacs has been classified as Green List (High Evidence).
Mitochondrial disease v0.161 SACS Zornitza Stark Classified gene: SACS as Green List (high evidence)
Mitochondrial disease v0.161 SACS Zornitza Stark Gene: sacs has been classified as Green List (High Evidence).
Mitochondrial disease v0.160 SACS Zornitza Stark gene: SACS was added
gene: SACS was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SACS were set to 22307627; 20876471
Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type, MIM# 270550
Review for gene: SACS was set to GREEN
Added comment: Progressive neurological disorder, multiple families reported, mitochondrial dysfunction.
Sources: Expert list
Mitochondrial disease v0.159 PDK3 Zornitza Stark Marked gene: PDK3 as ready
Mitochondrial disease v0.159 PDK3 Zornitza Stark Gene: pdk3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.159 PDK3 Zornitza Stark Phenotypes for gene: PDK3 were changed from to Charcot-Marie-Tooth disease, X-linked dominant, 6, MIM# 300905
Mitochondrial disease v0.158 PDK3 Zornitza Stark Publications for gene: PDK3 were set to
Mitochondrial disease v0.157 PDK3 Zornitza Stark Mode of inheritance for gene: PDK3 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mitochondrial disease v0.156 PDK3 Zornitza Stark reviewed gene: PDK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23297365, 28902413, 26801680; Phenotypes: Charcot-Marie-Tooth disease, X-linked dominant, 6, MIM# 300905; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mitochondrial disease v0.156 PC Zornitza Stark Marked gene: PC as ready
Mitochondrial disease v0.156 PC Zornitza Stark Gene: pc has been classified as Green List (High Evidence).
Mitochondrial disease v0.156 PC Zornitza Stark Classified gene: PC as Green List (high evidence)
Mitochondrial disease v0.156 PC Zornitza Stark Gene: pc has been classified as Green List (High Evidence).
Mitochondrial disease v0.155 PC Zornitza Stark gene: PC was added
gene: PC was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PC were set to Pyruvate carboxylase deficiency, MIM# 266150
Review for gene: PC was set to GREEN
Added comment: Multiple families reported. Spectrum of severity ranging from death in infancy to a relatively benign condition. Correlates with variant impact with more severely affected individuals having at least one truncating variant.
Sources: Expert list
Mendeliome v0.1743 NFS1 Zornitza Stark Marked gene: NFS1 as ready
Mendeliome v0.1743 NFS1 Zornitza Stark Gene: nfs1 has been classified as Red List (Low Evidence).
Mendeliome v0.1743 NFS1 Zornitza Stark Phenotypes for gene: NFS1 were changed from to Complex II/III deficiency; multisystem organ failure
Mitochondrial disease v0.154 NFS1 Zornitza Stark Marked gene: NFS1 as ready
Mitochondrial disease v0.154 NFS1 Zornitza Stark Gene: nfs1 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.154 NFS1 Zornitza Stark Phenotypes for gene: NFS1 were changed from to Complex II/III deficiency; multisystem organ failure
Mendeliome v0.1742 NFS1 Zornitza Stark Publications for gene: NFS1 were set to
Mendeliome v0.1741 NFS1 Zornitza Stark Mode of inheritance for gene: NFS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1740 NFS1 Zornitza Stark Classified gene: NFS1 as Red List (low evidence)
Mendeliome v0.1740 NFS1 Zornitza Stark Gene: nfs1 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.153 NFS1 Zornitza Stark Publications for gene: NFS1 were set to
Mendeliome v0.1739 NFS1 Zornitza Stark reviewed gene: NFS1: Rating: RED; Mode of pathogenicity: None; Publications: 24498631; Phenotypes: Complex II/III deficiency, multisystem organ failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.152 NFS1 Zornitza Stark Mode of inheritance for gene: NFS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.151 NFS1 Zornitza Stark Classified gene: NFS1 as Red List (low evidence)
Mitochondrial disease v0.151 NFS1 Zornitza Stark Gene: nfs1 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.150 NFS1 Zornitza Stark reviewed gene: NFS1: Rating: RED; Mode of pathogenicity: None; Publications: 24498631; Phenotypes: Complex II/III deficiency, multisystem organ failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1739 NDUFA6 Zornitza Stark Marked gene: NDUFA6 as ready
Mendeliome v0.1739 NDUFA6 Zornitza Stark Gene: ndufa6 has been classified as Green List (High Evidence).
Mendeliome v0.1739 NDUFA6 Zornitza Stark Phenotypes for gene: NDUFA6 were changed from to Mitochondrial complex I deficiency, nuclear type 33, MIM# 618253
Mendeliome v0.1738 NDUFA6 Zornitza Stark Publications for gene: NDUFA6 were set to
Mendeliome v0.1737 NDUFA6 Zornitza Stark Mode of inheritance for gene: NDUFA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1736 NDUFA6 Zornitza Stark reviewed gene: NDUFA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 30245030; Phenotypes: Mitochondrial complex I deficiency, nuclear type 33, MIM# 618253; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.150 NDUFA6 Zornitza Stark Marked gene: NDUFA6 as ready
Mitochondrial disease v0.150 NDUFA6 Zornitza Stark Gene: ndufa6 has been classified as Green List (High Evidence).
Mitochondrial disease v0.150 NDUFA6 Zornitza Stark Classified gene: NDUFA6 as Green List (high evidence)
Mitochondrial disease v0.150 NDUFA6 Zornitza Stark Gene: ndufa6 has been classified as Green List (High Evidence).
Mitochondrial disease v0.149 NDUFA6 Zornitza Stark gene: NDUFA6 was added
gene: NDUFA6 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: NDUFA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA6 were set to 30245030
Phenotypes for gene: NDUFA6 were set to Mitochondrial complex I deficiency, nuclear type 33, MIM# 618253
Review for gene: NDUFA6 was set to GREEN
gene: NDUFA6 was marked as current diagnostic
Added comment: Four unrelated children reported with bi-allelic variants in this gene and delayed development and/or neurologic deterioration in the first weeks or years of life. Two individuals died in infancy; the other 2 were unable to stand, walk, or speak, and had optic atrophy.
Sources: Expert list
Mitochondrial disease v0.148 NDUFA4 Zornitza Stark Marked gene: NDUFA4 as ready
Mitochondrial disease v0.148 NDUFA4 Zornitza Stark Gene: ndufa4 has been classified as Amber List (Moderate Evidence).
Regression v0.94 NDUFA4 Zornitza Stark Marked gene: NDUFA4 as ready
Regression v0.94 NDUFA4 Zornitza Stark Gene: ndufa4 has been classified as Red List (Low Evidence).
Regression v0.94 NDUFA4 Zornitza Stark Phenotypes for gene: NDUFA4 were changed from to Leigh syndrome; Complex IV deficiency
Regression v0.93 NDUFA4 Zornitza Stark Publications for gene: NDUFA4 were set to
Regression v0.92 NDUFA4 Zornitza Stark Classified gene: NDUFA4 as Red List (low evidence)
Regression v0.92 NDUFA4 Zornitza Stark Gene: ndufa4 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.148 NDUFA4 Zornitza Stark Phenotypes for gene: NDUFA4 were changed from to Leigh syndrome; Complex IV deficiency
Regression v0.91 NDUFA4 Zornitza Stark reviewed gene: NDUFA4: Rating: RED; Mode of pathogenicity: None; Publications: 30361421, 28988874, 23746447; Phenotypes: Leigh syndrome, Complex IV deficiency; Mode of inheritance: None
Mendeliome v0.1736 NDUFA4 Zornitza Stark Marked gene: NDUFA4 as ready
Mendeliome v0.1736 NDUFA4 Zornitza Stark Gene: ndufa4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1736 NDUFA4 Zornitza Stark Phenotypes for gene: NDUFA4 were changed from to Leigh syndrome; Complex IV deficiency
Mendeliome v0.1735 NDUFA4 Zornitza Stark Publications for gene: NDUFA4 were set to
Mendeliome v0.1734 NDUFA4 Zornitza Stark Mode of inheritance for gene: NDUFA4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1733 NDUFA4 Zornitza Stark Classified gene: NDUFA4 as Amber List (moderate evidence)
Mendeliome v0.1733 NDUFA4 Zornitza Stark Gene: ndufa4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1732 NDUFA4 Zornitza Stark reviewed gene: NDUFA4: Rating: AMBER; Mode of pathogenicity: None; Publications: 30361421, 28988874, 23746447; Phenotypes: Leigh syndrome, Complex IV deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.147 NDUFA4 Zornitza Stark Publications for gene: NDUFA4 were set to
Mitochondrial disease v0.146 NDUFA4 Zornitza Stark Mode of inheritance for gene: NDUFA4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.145 NDUFA4 Zornitza Stark Classified gene: NDUFA4 as Amber List (moderate evidence)
Mitochondrial disease v0.145 NDUFA4 Zornitza Stark Gene: ndufa4 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.144 NDUFA4 Zornitza Stark reviewed gene: NDUFA4: Rating: AMBER; Mode of pathogenicity: None; Publications: 30361421, 28988874, 23746447; Phenotypes: Leigh syndrome, Complex IV deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1732 NDUFA13 Zornitza Stark Marked gene: NDUFA13 as ready
Mendeliome v0.1732 NDUFA13 Zornitza Stark Gene: ndufa13 has been classified as Red List (Low Evidence).
Mendeliome v0.1732 NDUFA13 Zornitza Stark Phenotypes for gene: NDUFA13 were changed from to Mitochondrial complex I deficiency, nuclear type 28, MIM# 618249
Mendeliome v0.1731 NDUFA13 Zornitza Stark Publications for gene: NDUFA13 were set to
Mendeliome v0.1730 NDUFA13 Zornitza Stark Mode of inheritance for gene: NDUFA13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1729 NDUFA13 Zornitza Stark Classified gene: NDUFA13 as Red List (low evidence)
Mendeliome v0.1729 NDUFA13 Zornitza Stark Gene: ndufa13 has been classified as Red List (Low Evidence).
Mendeliome v0.1728 NDUFA13 Zornitza Stark reviewed gene: NDUFA13: Rating: RED; Mode of pathogenicity: None; Publications: 25901006; Phenotypes: Mitochondrial complex I deficiency, nuclear type 28, MIM# 618249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.144 NDUFA13 Zornitza Stark Marked gene: NDUFA13 as ready
Mitochondrial disease v0.144 NDUFA13 Zornitza Stark Gene: ndufa13 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.144 NDUFA13 Zornitza Stark Phenotypes for gene: NDUFA13 were changed from to Mitochondrial complex I deficiency, nuclear type 28, MIM# 618249
Mitochondrial disease v0.143 NDUFA13 Zornitza Stark Publications for gene: NDUFA13 were set to
Mitochondrial disease v0.142 NDUFA13 Zornitza Stark Mode of inheritance for gene: NDUFA13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.141 NDUFA13 Zornitza Stark Classified gene: NDUFA13 as Red List (low evidence)
Mitochondrial disease v0.141 NDUFA13 Zornitza Stark Gene: ndufa13 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.140 NDUFA13 Zornitza Stark reviewed gene: NDUFA13: Rating: RED; Mode of pathogenicity: None; Publications: 25901006; Phenotypes: Mitochondrial complex I deficiency, nuclear type 28, MIM# 618249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.140 NADK2 Zornitza Stark Marked gene: NADK2 as ready
Mitochondrial disease v0.140 NADK2 Zornitza Stark Gene: nadk2 has been classified as Green List (High Evidence).
Mendeliome v0.1728 NADK2 Zornitza Stark Marked gene: NADK2 as ready
Mendeliome v0.1728 NADK2 Zornitza Stark Gene: nadk2 has been classified as Green List (High Evidence).
Mendeliome v0.1728 NADK2 Zornitza Stark Classified gene: NADK2 as Green List (high evidence)
Mendeliome v0.1728 NADK2 Zornitza Stark Gene: nadk2 has been classified as Green List (High Evidence).
Mendeliome v0.1727 NADK2 Zornitza Stark gene: NADK2 was added
gene: NADK2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: NADK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NADK2 were set to 24847004; 29388319; 27940755
Phenotypes for gene: NADK2 were set to 2,4-dienoyl-CoA reductase deficiency, MIM# 616034
Review for gene: NADK2 was set to GREEN
gene: NADK2 was marked as current diagnostic
Added comment: Mitochondrial dysfunction resulting in severe neurologic and metabolic dysfunction beginning in early infancy reported in two individuals with confirmed variants in this gene. Another individual with homozygous hypomorphic start loss variant g.36241900 A>G p. Met1Val and milder phenotype reported (PMID:29388319).
Sources: Expert list
Mitochondrial disease v0.140 NADK2 Zornitza Stark Classified gene: NADK2 as Green List (high evidence)
Mitochondrial disease v0.140 NADK2 Zornitza Stark Gene: nadk2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.139 NADK2 Zornitza Stark gene: NADK2 was added
gene: NADK2 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: NADK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NADK2 were set to 24847004; 29388319; 27940755
Phenotypes for gene: NADK2 were set to 2,4-dienoyl-CoA reductase deficiency, MIM# 616034
Review for gene: NADK2 was set to GREEN
Added comment: Mitochondrial dysfunction resulting in severe neurologic and metabolic dysfunction beginning in early infancy reported in two individuals with confirmed variants in this gene. Another individual with homozygous hypomorphic start loss variant g.36241900 A>G p. Met1Val and milder phenotype reported (PMID:29388319).
Sources: Expert list
Mitochondrial disease v0.138 MSTO1 Zornitza Stark Marked gene: MSTO1 as ready
Mitochondrial disease v0.138 MSTO1 Zornitza Stark Gene: msto1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.138 MSTO1 Zornitza Stark Classified gene: MSTO1 as Green List (high evidence)
Mitochondrial disease v0.138 MSTO1 Zornitza Stark Gene: msto1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.137 MSTO1 Zornitza Stark gene: MSTO1 was added
gene: MSTO1 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: MSTO1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MSTO1 were set to 28554942; 28544275; 31604776; 31463572; 31130378; 30684668; 29339779
Phenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia, MIM# 617675
Review for gene: MSTO1 was set to GREEN
gene: MSTO1 was marked as current diagnostic
Added comment: Impaired mitochondrial fusion disorder. Multiple families reported with bi-allelic variants and childhood-onset muscular dystrophy, corticospinal tract dysfunction and early-onset non-progressive cerebellar atrophy. One family reported with heterozygous variant in this gene, gene-disease association for mono allelic variants not well established.
Sources: Expert list
Genetic Epilepsy v0.635 ISCA1 Zornitza Stark Marked gene: ISCA1 as ready
Genetic Epilepsy v0.635 ISCA1 Zornitza Stark Gene: isca1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.635 ISCA1 Zornitza Stark Classified gene: ISCA1 as Green List (high evidence)
Genetic Epilepsy v0.635 ISCA1 Zornitza Stark Gene: isca1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.634 ISCA1 Zornitza Stark gene: ISCA1 was added
gene: ISCA1 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISCA1 were set to 28356563; 32092383; 31016283; 30113620; 30105122
Phenotypes for gene: ISCA1 were set to Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613
Review for gene: ISCA1 was set to GREEN
Added comment: Multiple unrelated families reported. Severe disorder characterised by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Rat model results in early lethality. Founder variant c.259G > A, p.(Glu87Lys) reported in Indian families.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2470 ISCA1 Zornitza Stark Marked gene: ISCA1 as ready
Intellectual disability syndromic and non-syndromic v0.2470 ISCA1 Zornitza Stark Gene: isca1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2470 ISCA1 Zornitza Stark Classified gene: ISCA1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2470 ISCA1 Zornitza Stark Gene: isca1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2469 ISCA1 Zornitza Stark gene: ISCA1 was added
gene: ISCA1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISCA1 were set to 28356563; 32092383; 31016283; 30113620; 30105122
Phenotypes for gene: ISCA1 were set to Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613
Review for gene: ISCA1 was set to GREEN
gene: ISCA1 was marked as current diagnostic
Added comment: Multiple unrelated families reported. Severe disorder characterised by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Rat model results in early lethality. Founder variant c.259G > A, p.(Glu87Lys) reported in Indian families.
Sources: Expert list
Regression v0.91 ISCA1 Zornitza Stark Marked gene: ISCA1 as ready
Regression v0.91 ISCA1 Zornitza Stark Gene: isca1 has been classified as Green List (High Evidence).
Regression v0.91 ISCA1 Zornitza Stark Classified gene: ISCA1 as Green List (high evidence)
Regression v0.91 ISCA1 Zornitza Stark Gene: isca1 has been classified as Green List (High Evidence).
Regression v0.90 ISCA1 Zornitza Stark gene: ISCA1 was added
gene: ISCA1 was added to Regression. Sources: Expert list
Mode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISCA1 were set to 28356563; 32092383; 31016283; 30113620; 30105122
Phenotypes for gene: ISCA1 were set to Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613
Review for gene: ISCA1 was set to GREEN
gene: ISCA1 was marked as current diagnostic
Added comment: Multiple unrelated families reported. Severe disorder characterised by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Rat model results in early lethality. Founder variant c.259G > A, p.(Glu87Lys) reported in Indian families.
Sources: Expert list
Mendeliome v0.1726 ISCA1 Zornitza Stark Marked gene: ISCA1 as ready
Mendeliome v0.1726 ISCA1 Zornitza Stark Gene: isca1 has been classified as Green List (High Evidence).
Mendeliome v0.1726 ISCA1 Zornitza Stark Classified gene: ISCA1 as Green List (high evidence)
Mendeliome v0.1726 ISCA1 Zornitza Stark Gene: isca1 has been classified as Green List (High Evidence).
Mendeliome v0.1725 ISCA1 Zornitza Stark gene: ISCA1 was added
gene: ISCA1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISCA1 were set to 28356563; 32092383; 31016283; 30113620; 30105122
Phenotypes for gene: ISCA1 were set to Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613
Review for gene: ISCA1 was set to GREEN
gene: ISCA1 was marked as current diagnostic
Added comment: Multiple unrelated families reported. Severe disorder characterised by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Rat model results in early lethality. Founder variant c.259G > A, p.(Glu87Lys) reported in Indian families.
Sources: Expert list
Mitochondrial disease v0.136 ISCA1 Zornitza Stark Marked gene: ISCA1 as ready
Mitochondrial disease v0.136 ISCA1 Zornitza Stark Gene: isca1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.136 ISCA1 Zornitza Stark Classified gene: ISCA1 as Green List (high evidence)
Mitochondrial disease v0.136 ISCA1 Zornitza Stark Gene: isca1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.135 ISCA1 Zornitza Stark gene: ISCA1 was added
gene: ISCA1 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISCA1 were set to 28356563; 32092383; 31016283; 30113620; 30105122
Phenotypes for gene: ISCA1 were set to Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613
Review for gene: ISCA1 was set to GREEN
gene: ISCA1 was marked as current diagnostic
Added comment: Multiple unrelated families reported. Severe disorder characterised by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Rat model results in early lethality. Founder variant c.259G > A, p.(Glu87Lys) reported in Indian families.
Sources: Expert list
Mitochondrial disease v0.134 IDH3B Zornitza Stark Marked gene: IDH3B as ready
Mitochondrial disease v0.134 IDH3B Zornitza Stark Gene: idh3b has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.134 IDH3B Zornitza Stark Phenotypes for gene: IDH3B were changed from to Retinitis pigmentosa 46, MIM# 612572
Mitochondrial disease v0.133 IDH3B Zornitza Stark Publications for gene: IDH3B were set to
Mitochondrial disease v0.132 IDH3B Zornitza Stark Mode of inheritance for gene: IDH3B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.131 IDH3B Zornitza Stark Classified gene: IDH3B as Amber List (moderate evidence)
Mitochondrial disease v0.131 IDH3B Zornitza Stark Gene: idh3b has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.130 IDH3B Zornitza Stark reviewed gene: IDH3B: Rating: AMBER; Mode of pathogenicity: None; Publications: 18806796, 31736247; Phenotypes: Retinitis pigmentosa 46, MIM# 612572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.130 HTRA2 Zornitza Stark Marked gene: HTRA2 as ready
Mitochondrial disease v0.130 HTRA2 Zornitza Stark Gene: htra2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.130 HTRA2 Zornitza Stark Classified gene: HTRA2 as Green List (high evidence)
Mitochondrial disease v0.130 HTRA2 Zornitza Stark Gene: htra2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.129 HTRA2 Zornitza Stark gene: HTRA2 was added
gene: HTRA2 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HTRA2 were set to 27208207; 27696117
Phenotypes for gene: HTRA2 were set to 3-methylglutaconic aciduria, type VIII, MIM# 617248
Review for gene: HTRA2 was set to GREEN
gene: HTRA2 was marked as current diagnostic
Added comment: Severe disorder typically presenting with hypotonia, abnormal movements, respiratory insufficiency with apnoea, and lack of developmental progress, often with seizures. Brain imaging is variable, but may show progressive cerebral atrophy. Increased serum lactate and 3-methylglutaconic aciduria. At least four unrelated families reported.
Sources: Expert list
Mendeliome v0.1724 ERCC5 Zornitza Stark Marked gene: ERCC5 as ready
Mendeliome v0.1724 ERCC5 Zornitza Stark Gene: ercc5 has been classified as Green List (High Evidence).
Mendeliome v0.1724 ERCC5 Zornitza Stark Phenotypes for gene: ERCC5 were changed from to Cerebrooculofacioskeletal syndrome 3, MIM# 616570; Xeroderma pigmentosum, group G, MIM# 278780; Xeroderma pigmentosum, group G/Cockayne syndrome, MIM# 278780
Mendeliome v0.1723 ERCC5 Zornitza Stark Publications for gene: ERCC5 were set to
Mendeliome v0.1722 ERCC5 Zornitza Stark Mode of inheritance for gene: ERCC5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1721 BTD Zornitza Stark Marked gene: BTD as ready
Mendeliome v0.1721 BTD Zornitza Stark Gene: btd has been classified as Green List (High Evidence).
Mendeliome v0.1721 BTD Zornitza Stark Phenotypes for gene: BTD were changed from to Biotinidase deficiency, MIM 253260
Mendeliome v0.1720 BTD Zornitza Stark Publications for gene: BTD were set to
Mendeliome v0.1719 BTD Zornitza Stark Mode of inheritance for gene: BTD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1718 CTNNB1 Zornitza Stark Marked gene: CTNNB1 as ready
Mendeliome v0.1718 CTNNB1 Zornitza Stark Gene: ctnnb1 has been classified as Green List (High Evidence).
Mendeliome v0.1718 CTNNB1 Zornitza Stark Phenotypes for gene: CTNNB1 were changed from to Exudative vitreoretinopathy 7, MIM# 617572; Neurodevelopmental disorder with spastic diplegia and visual defects, MIM# 615075
Mendeliome v0.1717 CTNNB1 Zornitza Stark Publications for gene: CTNNB1 were set to
Mendeliome v0.1716 CTNNB1 Zornitza Stark Mode of pathogenicity for gene: CTNNB1 was changed from to Other
Mendeliome v0.1715 CTNNB1 Zornitza Stark Mode of inheritance for gene: CTNNB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1714 CTNNB1 Zornitza Stark reviewed gene: CTNNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25326669, 29435196, 27915094, 30640974; Phenotypes: Exudative vitreoretinopathy 7, MIM# 617572, Neurodevelopmental disorder with spastic diplegia and visual defects, MIM# 615075; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1714 ERCC5 Chern Lim reviewed gene: ERCC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 30838033, 24700531; Phenotypes: Cerebrooculofacioskeletal syndrome 3, MIM# 616570, Xeroderma pigmentosum, group G, MIM# 278780, Xeroderma pigmentosum, group G/Cockayne syndrome, MIM# 278780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1714 BTD Chern Lim reviewed gene: BTD: Rating: GREEN; Mode of pathogenicity: None; Publications: 10801053, 12359137; Phenotypes: Biotinidase deficiency, MIM 253260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1714 CTNNB1 Teresa Zhao changed review comment from: OMIM:
LoF - mainly non cancerous phenotypes, and
GoF - mainly cancer phenotypes.

Cancer hot spot in exon 3, mainly missenses affecting S33, S37, S45, T41, D32 and G34 (Gao. C. et al. 2017); to: OMIM:
LoF - mainly non cancerous phenotypes, and
GoF - mainly cancer phenotypes.

Cancer hot spot in exon 3, mainly missenses affecting S33, S37, S45, T41, D32 and G34 (Gao. C. et al. 2017)
Mendeliome v0.1714 CTNNB1 Teresa Zhao reviewed gene: CTNNB1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: PMID: 29435196, PMID: 27915094, PMID: 30640974; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.106 KANK4 Zornitza Stark edited their review of gene: KANK4: Changed phenotypes: Nephrotic syndrome
Mendeliome v0.1714 KANK4 Zornitza Stark edited their review of gene: KANK4: Changed rating: RED
Mendeliome v0.1714 TET2 Zornitza Stark Marked gene: TET2 as ready
Mendeliome v0.1714 TET2 Zornitza Stark Gene: tet2 has been classified as Red List (Low Evidence).
Mendeliome v0.1714 TET2 Zornitza Stark Classified gene: TET2 as Red List (low evidence)
Mendeliome v0.1714 TET2 Zornitza Stark Gene: tet2 has been classified as Red List (Low Evidence).
Mendeliome v0.1713 TET2 Zornitza Stark reviewed gene: TET2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.1713 ARL11 Zornitza Stark Marked gene: ARL11 as ready
Mendeliome v0.1713 ARL11 Zornitza Stark Gene: arl11 has been classified as Red List (Low Evidence).
Mendeliome v0.1713 ARL11 Zornitza Stark Mode of inheritance for gene: ARL11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1712 ARL11 Zornitza Stark Classified gene: ARL11 as Red List (low evidence)
Mendeliome v0.1712 ARL11 Zornitza Stark Gene: arl11 has been classified as Red List (Low Evidence).
Mendeliome v0.1711 ARL11 Zornitza Stark reviewed gene: ARL11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1711 CLCN6 Zornitza Stark Marked gene: CLCN6 as ready
Mendeliome v0.1711 CLCN6 Zornitza Stark Gene: clcn6 has been classified as Red List (Low Evidence).
Mendeliome v0.1711 CLCN6 Zornitza Stark Phenotypes for gene: CLCN6 were changed from to Benign partial epilepsy; febrile seizures; NCL
Mendeliome v0.1710 CLCN6 Zornitza Stark Publications for gene: CLCN6 were set to
Mendeliome v0.1709 CLCN6 Zornitza Stark Mode of inheritance for gene: CLCN6 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1708 CLCN6 Zornitza Stark Classified gene: CLCN6 as Red List (low evidence)
Mendeliome v0.1708 CLCN6 Zornitza Stark Gene: clcn6 has been classified as Red List (Low Evidence).
Mendeliome v0.1707 CLCN6 Zornitza Stark reviewed gene: CLCN6: Rating: RED; Mode of pathogenicity: None; Publications: 25794116, 21107136; Phenotypes: Benign partial epilepsy, febrile seizures, NCL; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.5 CLCN6 Zornitza Stark Marked gene: CLCN6 as ready
Lysosomal Storage Disorder v0.5 CLCN6 Zornitza Stark Gene: clcn6 has been classified as Red List (Low Evidence).
Lysosomal Storage Disorder v0.5 CLCN6 Zornitza Stark Phenotypes for gene: CLCN6 were changed from to Benign partial epilepsy; febrile seizures; NCL
Lysosomal Storage Disorder v0.4 CLCN6 Zornitza Stark Publications for gene: CLCN6 were set to
Lysosomal Storage Disorder v0.3 CLCN6 Zornitza Stark Mode of inheritance for gene: CLCN6 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.2 CLCN6 Zornitza Stark Classified gene: CLCN6 as Red List (low evidence)
Lysosomal Storage Disorder v0.2 CLCN6 Zornitza Stark Gene: clcn6 has been classified as Red List (Low Evidence).
Lysosomal Storage Disorder v0.1 CLCN6 Zornitza Stark edited their review of gene: CLCN6: Changed phenotypes: Benign partial epilepsy, febrile seizures, NCL; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.1 CLCN6 Zornitza Stark reviewed gene: CLCN6: Rating: RED; Mode of pathogenicity: None; Publications: 25794116, 21107136; Phenotypes: Benign partial epilepsy, febrile seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1707 SEMA6B Zornitza Stark Marked gene: SEMA6B as ready
Mendeliome v0.1707 SEMA6B Zornitza Stark Gene: sema6b has been classified as Green List (High Evidence).
Mendeliome v0.1707 SEMA6B Zornitza Stark Classified gene: SEMA6B as Green List (high evidence)
Mendeliome v0.1707 SEMA6B Zornitza Stark Gene: sema6b has been classified as Green List (High Evidence).
Mendeliome v0.1706 SEMA6B Zornitza Stark gene: SEMA6B was added
gene: SEMA6B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SEMA6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEMA6B were set to 32169168
Phenotypes for gene: SEMA6B were set to Progressive myoclonic epilepsy
Mode of pathogenicity for gene: SEMA6B was set to Other
Review for gene: SEMA6B was set to GREEN
Added comment: Five individuals from unrelated families reported with de novo variants in the last exon, escaping NMD.
Sources: Literature
Genetic Epilepsy v0.633 SEMA6B Zornitza Stark Marked gene: SEMA6B as ready
Genetic Epilepsy v0.633 SEMA6B Zornitza Stark Gene: sema6b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.633 SEMA6B Zornitza Stark Classified gene: SEMA6B as Green List (high evidence)
Genetic Epilepsy v0.633 SEMA6B Zornitza Stark Gene: sema6b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.632 SEMA6B Zornitza Stark gene: SEMA6B was added
gene: SEMA6B was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: SEMA6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEMA6B were set to 32169168
Phenotypes for gene: SEMA6B were set to Progressive myoclonic epilepsy
Mode of pathogenicity for gene: SEMA6B was set to Other
Review for gene: SEMA6B was set to GREEN
Added comment: Five individuals from unrelated families reported with de novo variants in the last exon, escaping NMD.
Sources: Literature
Mendeliome v0.1705 IFT74 Zornitza Stark Publications for gene: IFT74 were set to 27486776
Mendeliome v0.1704 IFT74 Zornitza Stark Classified gene: IFT74 as Green List (high evidence)
Mendeliome v0.1704 IFT74 Zornitza Stark Gene: ift74 has been classified as Green List (High Evidence).
Mendeliome v0.1703 IFT74 Zornitza Stark edited their review of gene: IFT74: Added comment: Second individual with bi-allelic variants and BBS phenotype reported.; Changed rating: GREEN; Changed publications: 27486776, 32144365
Ciliopathies v0.73 IFT74 Zornitza Stark Classified gene: IFT74 as Green List (high evidence)
Ciliopathies v0.73 IFT74 Zornitza Stark Gene: ift74 has been classified as Green List (High Evidence).
Ciliopathies v0.72 IFT74 Zornitza Stark edited their review of gene: IFT74: Added comment: Second individual with bi-allelic variants reported.; Changed rating: GREEN; Changed publications: 27486776, 32144365
Bardet Biedl syndrome v0.23 IFT74 Zornitza Stark Publications for gene: IFT74 were set to 27486776
Bardet Biedl syndrome v0.22 IFT74 Zornitza Stark Classified gene: IFT74 as Green List (high evidence)
Bardet Biedl syndrome v0.22 IFT74 Zornitza Stark Gene: ift74 has been classified as Green List (High Evidence).
Bardet Biedl syndrome v0.21 IFT74 Zornitza Stark edited their review of gene: IFT74: Changed rating: GREEN
Bardet Biedl syndrome v0.21 IFT74 Zornitza Stark changed review comment from: Single family plus functional data.
Sources: Expert list; to: Single family plus functional data (zebrafish model consistent with ciliopathy).
Sources: Expert list
Bardet Biedl syndrome v0.21 IFT74 Zornitza Stark edited their review of gene: IFT74: Added comment: Second individual with bi-allelic variants reported.; Changed publications: 27486776, 32144365
Renal Ciliopathies and Nephronophthisis v0.99 IFT74 Zornitza Stark Publications for gene: IFT74 were set to 27486776
Renal Ciliopathies and Nephronophthisis v0.98 IFT74 Zornitza Stark edited their review of gene: IFT74: Added comment: Second individual with bi-allelic variants reported. However, neither had renal disease.; Changed publications: 27486776, 32144365
Mendeliome v0.1703 CAMTA1 Zornitza Stark Marked gene: CAMTA1 as ready
Mendeliome v0.1703 CAMTA1 Zornitza Stark Gene: camta1 has been classified as Green List (High Evidence).
Mendeliome v0.1703 CAMTA1 Zornitza Stark Phenotypes for gene: CAMTA1 were changed from to Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD)
Mendeliome v0.1702 CAMTA1 Zornitza Stark Publications for gene: CAMTA1 were set to
Mendeliome v0.1701 CAMTA1 Zornitza Stark Mode of inheritance for gene: CAMTA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1700 CAMTA1 Zornitza Stark Tag SV/CNV tag was added to gene: CAMTA1.
Mendeliome v0.1700 CAMTA1 Zornitza Stark reviewed gene: CAMTA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32157189, 22693284; Phenotypes: Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.89 CAMTA1 Zornitza Stark Marked gene: CAMTA1 as ready
Regression v0.89 CAMTA1 Zornitza Stark Gene: camta1 has been classified as Red List (Low Evidence).
Regression v0.89 CAMTA1 Zornitza Stark Phenotypes for gene: CAMTA1 were changed from to Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD)
Regression v0.88 CAMTA1 Zornitza Stark Publications for gene: CAMTA1 were set to
Regression v0.87 CAMTA1 Zornitza Stark Mode of inheritance for gene: CAMTA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.86 CAMTA1 Zornitza Stark Classified gene: CAMTA1 as Red List (low evidence)
Regression v0.86 CAMTA1 Zornitza Stark Gene: camta1 has been classified as Red List (Low Evidence).
Regression v0.85 CAMTA1 Zornitza Stark reviewed gene: CAMTA1: Rating: RED; Mode of pathogenicity: None; Publications: 32157189, 22693284; Phenotypes: Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2468 CAMTA1 Zornitza Stark Publications for gene: CAMTA1 were set to
Intellectual disability syndromic and non-syndromic v0.2467 CAMTA1 Zornitza Stark Tag SV/CNV tag was added to gene: CAMTA1.
Intellectual disability syndromic and non-syndromic v0.2467 CAMTA1 Zornitza Stark reviewed gene: CAMTA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32157189, 22693284; Phenotypes: Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1700 TNNI3K Zornitza Stark Marked gene: TNNI3K as ready
Mendeliome v0.1700 TNNI3K Zornitza Stark Gene: tnni3k has been classified as Green List (High Evidence).
Mendeliome v0.1700 TNNI3K Zornitza Stark Classified gene: TNNI3K as Green List (high evidence)
Mendeliome v0.1700 TNNI3K Zornitza Stark Gene: tnni3k has been classified as Green List (High Evidence).
Mendeliome v0.1699 TNNI3K Zornitza Stark gene: TNNI3K was added
gene: TNNI3K was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: TNNI3K was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TNNI3K were set to 30010057; 29355681
Phenotypes for gene: TNNI3K were set to Cardiac conduction disease with or without dilated cardiomyopathy, MIM# 616117
Review for gene: TNNI3K was set to GREEN
gene: TNNI3K was marked as current diagnostic
Added comment: At least 6 multigenerational families reported where variants segregated with disease.
Sources: Expert list
Dilated Cardiomyopathy v0.22 TNNI3K Zornitza Stark Marked gene: TNNI3K as ready
Dilated Cardiomyopathy v0.22 TNNI3K Zornitza Stark Added comment: Comment when marking as ready: At least 6 multigenerational families reported where variants segregated with disease.
Dilated Cardiomyopathy v0.22 TNNI3K Zornitza Stark Gene: tnni3k has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.22 TNNI3K Zornitza Stark Phenotypes for gene: TNNI3K were changed from Cardiac conduction disease with or without dilated cardiomyopathy 616117 to Cardiac conduction disease with or without dilated cardiomyopathy, MIM# 616117
Dilated Cardiomyopathy v0.21 TNNI3K Zornitza Stark Classified gene: TNNI3K as Green List (high evidence)
Dilated Cardiomyopathy v0.21 TNNI3K Zornitza Stark Gene: tnni3k has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.20 TNNI3K Ivan Macciocca gene: TNNI3K was added
gene: TNNI3K was added to Dilated Cardiomyopathy. Sources: Expert list
Mode of inheritance for gene: TNNI3K was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TNNI3K were set to 30010057; 29355681
Phenotypes for gene: TNNI3K were set to Cardiac conduction disease with or without dilated cardiomyopathy 616117
Review for gene: TNNI3K was set to GREEN
gene: TNNI3K was marked as current diagnostic
Added comment: mutliple families reported. Green on England PanelApp
Sources: Expert list
Ectodermal Dysplasia v0.21 KREMEN1 Zornitza Stark Marked gene: KREMEN1 as ready
Ectodermal Dysplasia v0.21 KREMEN1 Zornitza Stark Gene: kremen1 has been classified as Amber List (Moderate Evidence).
Ectodermal Dysplasia v0.21 KREMEN1 Zornitza Stark Publications for gene: KREMEN1 were set to
Ectodermal Dysplasia v0.20 KREMEN1 Zornitza Stark Classified gene: KREMEN1 as Amber List (moderate evidence)
Ectodermal Dysplasia v0.20 KREMEN1 Zornitza Stark Gene: kremen1 has been classified as Amber List (Moderate Evidence).
Ectodermal Dysplasia v0.19 KREMEN1 Zornitza Stark reviewed gene: KREMEN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29526031, 29526031; Phenotypes: Ectodermal dysplasia 13, hair/tooth type, 617392; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ectodermal Dysplasia v0.19 Zornitza Stark Panel name changed from Ectodermal Dysplasia_RMH to Ectodermal Dysplasia
Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Ectodermal Dysplasia v0.18 ENAM Zornitza Stark Marked gene: ENAM as ready
Ectodermal Dysplasia v0.18 ENAM Zornitza Stark Gene: enam has been classified as Red List (Low Evidence).
Ectodermal Dysplasia v0.18 ENAM Zornitza Stark gene: ENAM was added
gene: ENAM was added to Ectodermal Dysplasia_RMH. Sources: Expert list
Mode of inheritance for gene: ENAM was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ENAM were set to Amelogenesis imperfecta, type IB, MIM# 104500; Amelogenesis imperfecta, type IC, MIM# 204650
Review for gene: ENAM was set to RED
Added comment: Affects teeth only.
Sources: Expert list
Ectodermal Dysplasia v0.17 PKP1 Bryony Thompson Marked gene: PKP1 as ready
Ectodermal Dysplasia v0.17 PKP1 Bryony Thompson Gene: pkp1 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.17 PKP1 Bryony Thompson Classified gene: PKP1 as Green List (high evidence)
Ectodermal Dysplasia v0.17 PKP1 Bryony Thompson Gene: pkp1 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.16 PKP1 Bryony Thompson gene: PKP1 was added
gene: PKP1 was added to Ectodermal Dysplasia_RMH. Sources: Expert list
Mode of inheritance for gene: PKP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PKP1 were set to 26288439; 9326952
Phenotypes for gene: PKP1 were set to Ectodermal dysplasia/skin fragility syndrome MIM#604536
Review for gene: PKP1 was set to GREEN
Added comment: Ectodermal dysplasia is a prominent feature of the condition. >3 cases reported.
Sources: Expert list
Microcephaly v0.100 GPT2 Zornitza Stark Marked gene: GPT2 as ready
Microcephaly v0.100 GPT2 Zornitza Stark Gene: gpt2 has been classified as Green List (High Evidence).
Microcephaly v0.100 GPT2 Zornitza Stark Classified gene: GPT2 as Green List (high evidence)
Microcephaly v0.100 GPT2 Zornitza Stark Gene: gpt2 has been classified as Green List (High Evidence).
Microcephaly v0.99 GPT2 Zornitza Stark gene: GPT2 was added
gene: GPT2 was added to Microcephaly. Sources: Expert list
Mode of inheritance for gene: GPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPT2 were set to 27601654; 25758935
Phenotypes for gene: GPT2 were set to Mental retardation, autosomal recessive 49, MIM#616281
Review for gene: GPT2 was set to GREEN
Added comment: Two missense and 1 truncating variants reported, in 3 unrelated consanguineous families with intellectual and developmental disabilities and microcephaly. Functional studies showed loss of enzyme activity.
Sources: Expert list
Ectodermal Dysplasia v0.15 NFKBIA Bryony Thompson Marked gene: NFKBIA as ready
Ectodermal Dysplasia v0.15 NFKBIA Bryony Thompson Gene: nfkbia has been classified as Green List (High Evidence).