PanelApp (test)

Activity

Filter

Cancel
Date Panel Item Activity
80 actions
Tubulinopathies v2.0 TUBGCP4 Gene migrated from ENSG00000137822 to ENSG00000137822 (gene set migration)
Tubulinopathies v2.0 TUBA8 Gene migrated from ENSG00000183785 to ENSG00000183785 (gene set migration)
Tubulinopathies v2.0 TTL Gene migrated from ENSG00000114999 to ENSG00000114999 (gene set migration)
Tubulinopathies v2.0 TUBA1A Gene migrated from ENSG00000167552 to ENSG00000167552 (gene set migration)
Tubulinopathies v2.0 TUBB2A Gene migrated from ENSG00000137267 to ENSG00000137267 (gene set migration)
Tubulinopathies v2.0 TUBB3 Gene migrated from ENSG00000258947 to ENSG00000258947 (gene set migration)
Tubulinopathies v2.0 TUBB2B Gene migrated from ENSG00000137285 to ENSG00000137285 (gene set migration)
Tubulinopathies v2.0 TUBB Gene migrated from ENSG00000196230 to ENSG00000196230 (gene set migration)
Tubulinopathies v2.0 TUBG1 Gene migrated from ENSG00000131462 to ENSG00000131462 (gene set migration)
Tubulinopathies v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.2
Tubulinopathies v1.2 TUBA8 chirag patel Tag disputed tag was added to gene: TUBA8.
Tubulinopathies v1.2 TUBA8 chirag patel reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Tubulinopathies v1.2 TTL Bryony Thompson Marked gene: TTL as ready
Tubulinopathies v1.2 TTL Bryony Thompson Gene: ttl has been classified as Amber List (Moderate Evidence).
Tubulinopathies v1.2 TTL Bryony Thompson Classified gene: TTL as Amber List (moderate evidence)
Tubulinopathies v1.2 TTL Bryony Thompson Gene: ttl has been classified as Amber List (Moderate Evidence).
Tubulinopathies v1.2 TTL Bryony Thompson Classified gene: TTL as Amber List (moderate evidence)
Tubulinopathies v1.2 TTL Bryony Thompson Gene: ttl has been classified as Amber List (Moderate Evidence).
Tubulinopathies v1.1 TTL Mark Cleghorn gene: TTL was added
gene: TTL was added to Tubulinopathies. Sources: Other
Mode of inheritance for gene: TTL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTL were set to complex neurodevelopmental disorder MONDO:0100038
Penetrance for gene: TTL were set to unknown
Review for gene: TTL was set to AMBER
Added comment: TTL
Valentina Serpieri, University of Pavia
ESHG talk 1/6/24

FAM1 (Italy)
2 affected sisters born to consanguineous Pakistani parents
GDD, spastic tetraparesis, optic atrophy, brain anomalies resembling tubulinopathies (dysplasia of corpus callosum, basal ganglia, brainstem)
WES: homozygous TTL:c.1013G>A; p.Cys338Tyr in both affected sisters

Via genematcher
5 more families (9 individuals) w similar phenotypes and biallelic variants in TTL

FAM2 (Egypt): homozygous p.Arg46Pro
FAM3 (Egypt): homozygous p.Arg46Pro
FAM4 (Australia): homozygous p.Gln183Arg
FAM5 (France): homozygous p.Trp147*
FAM6 (Saudi Arabia): homozygous p.His243Tyr

TTL KO mice: death soon after birth, no overt malformations, but defects in organisation of cerebral layers

Functional work on patient fibroblasts
FAM1 – reduced quantity of TTL protein compared to control on Western blot, decreased function of TTL protein (increase in detyrosinated tubulin) compared to controls – infer LoF as mechanism
FAM3 – mentioned but no details
FAM4– mentioned but no details
Sources: Other
Tubulinopathies v1.1 Zornitza Stark HPO terms changed from to Abnormal cortical gyration, HP:0002536
List of related panels changed from to Abnormal cortical gyration; HP:0002536
Tubulinopathies v1.0 Zornitza Stark promoted panel to version 1.0
Tubulinopathies v0.28 TUBG1 Zornitza Stark Marked gene: TUBG1 as ready
Tubulinopathies v0.28 TUBG1 Zornitza Stark Gene: tubg1 has been classified as Green List (High Evidence).
Tubulinopathies v0.28 TUBG1 Zornitza Stark Phenotypes for gene: TUBG1 were changed from to Cortical dysplasia, complex, with other brain malformations 4, MIM# 615412
Tubulinopathies v0.27 TUBG1 Zornitza Stark Publications for gene: TUBG1 were set to
Tubulinopathies v0.26 TUBG1 Zornitza Stark Mode of inheritance for gene: TUBG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.25 TUBG1 Zornitza Stark reviewed gene: TUBG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23603762, 31086189; Phenotypes: Cortical dysplasia, complex, with other brain malformations 4, MIM# 615412; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.25 TUBB3 Zornitza Stark Marked gene: TUBB3 as ready
Tubulinopathies v0.25 TUBB3 Zornitza Stark Gene: tubb3 has been classified as Green List (High Evidence).
Tubulinopathies v0.25 TUBB3 Zornitza Stark Phenotypes for gene: TUBB3 were changed from to Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039
Tubulinopathies v0.24 TUBB3 Zornitza Stark Publications for gene: TUBB3 were set to
Tubulinopathies v0.23 TUBB3 Zornitza Stark Mode of inheritance for gene: TUBB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.22 TUBB3 Zornitza Stark reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20829227, 25059107, 33318778; Phenotypes: Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.22 TUBB2B Zornitza Stark Marked gene: TUBB2B as ready
Tubulinopathies v0.22 TUBB2B Zornitza Stark Gene: tubb2b has been classified as Green List (High Evidence).
Tubulinopathies v0.22 TUBB2B Zornitza Stark Phenotypes for gene: TUBB2B were changed from to Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031
Tubulinopathies v0.21 TUBB2B Zornitza Stark Publications for gene: TUBB2B were set to
Tubulinopathies v0.20 TUBB2B Zornitza Stark Mode of inheritance for gene: TUBB2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.19 TUBB2B Zornitza Stark reviewed gene: TUBB2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 19465910, 22333901, 26732629, 33082561; Phenotypes: Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.19 TUBB Zornitza Stark Marked gene: TUBB as ready
Tubulinopathies v0.19 TUBB Zornitza Stark Gene: tubb has been classified as Green List (High Evidence).
Tubulinopathies v0.19 TUBB Zornitza Stark Phenotypes for gene: TUBB were changed from to Cortical dysplasia, complex, with other brain malformations 6, MIM# 615771
Tubulinopathies v0.18 TUBB Zornitza Stark Publications for gene: TUBB were set to
Tubulinopathies v0.17 TUBB Zornitza Stark Mode of inheritance for gene: TUBB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.16 TUBB Zornitza Stark reviewed gene: TUBB: Rating: GREEN; Mode of pathogenicity: None; Publications: 23246003, 32085672; Phenotypes: Cortical dysplasia, complex, with other brain malformations 6, MIM# 615771; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.16 TUBA1A Zornitza Stark Mode of inheritance for gene: TUBA1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.15 TUBA1A Zornitza Stark reviewed gene: TUBA1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 17218254, 17584854, 18728072; Phenotypes: Lissencephaly 3, MIM# 611603; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.14 Zornitza Stark Panel types changed to Australian Genomics; Victorian Clinical Genetics Services; Rare Disease
Tubulinopathies v0.13 TUBGCP4 Zornitza Stark Marked gene: TUBGCP4 as ready
Tubulinopathies v0.13 TUBGCP4 Zornitza Stark Gene: tubgcp4 has been classified as Red List (Low Evidence).
Tubulinopathies v0.13 TUBGCP4 Zornitza Stark Phenotypes for gene: TUBGCP4 were changed from to Microcephaly and chorioretinopathy, autosomal recessive, 3 (MIM#616335)
Tubulinopathies v0.12 TUBGCP4 Zornitza Stark Publications for gene: TUBGCP4 were set to
Tubulinopathies v0.11 TUBGCP4 Zornitza Stark Mode of inheritance for gene: TUBGCP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Tubulinopathies v0.10 TUBGCP4 Zornitza Stark Classified gene: TUBGCP4 as Red List (low evidence)
Tubulinopathies v0.10 TUBGCP4 Zornitza Stark Gene: tubgcp4 has been classified as Red List (Low Evidence).
Tubulinopathies v0.9 TUBGCP4 Paul De Fazio reviewed gene: TUBGCP4: Rating: RED; Mode of pathogenicity: None; Publications: 25817018, 32270730; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 3 (MIM#616335); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Tubulinopathies v0.9 TUBB2A Zornitza Stark Marked gene: TUBB2A as ready
Tubulinopathies v0.9 TUBB2A Zornitza Stark Gene: tubb2a has been classified as Green List (High Evidence).
Tubulinopathies v0.9 TUBB2A Zornitza Stark Phenotypes for gene: TUBB2A were changed from to Cortical dysplasia, complex, with other brain malformations 5, MIM# 615763
Tubulinopathies v0.8 TUBB2A Zornitza Stark Publications for gene: TUBB2A were set to
Tubulinopathies v0.7 TUBB2A Zornitza Stark Mode of inheritance for gene: TUBB2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.6 TUBB2A Zornitza Stark reviewed gene: TUBB2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32571897; Phenotypes: Cortical dysplasia, complex, with other brain malformations 5, MIM# 615763; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.6 TUBA8 Zornitza Stark Marked gene: TUBA8 as ready
Tubulinopathies v0.6 TUBA8 Zornitza Stark Gene: tuba8 has been classified as Red List (Low Evidence).
Tubulinopathies v0.6 TUBA8 Zornitza Stark Phenotypes for gene: TUBA8 were changed from to Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180
Tubulinopathies v0.5 TUBA8 Zornitza Stark Publications for gene: TUBA8 were set to
Tubulinopathies v0.4 TUBA8 Zornitza Stark Mode of inheritance for gene: TUBA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Tubulinopathies v0.3 TUBA8 Zornitza Stark Classified gene: TUBA8 as Red List (low evidence)
Tubulinopathies v0.3 TUBA8 Zornitza Stark Gene: tuba8 has been classified as Red List (Low Evidence).
Tubulinopathies v0.2 TUBA8 Zornitza Stark reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: 19896110, 31481326, 28388629; Phenotypes: Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Tubulinopathies v0.1 Sebastian Lunke Panel name changed from Tubulinopathies_AustralianGenomics_VCGS to Tubulinopathies
Panel types changed to Australian Genomics; Victorian Clinical Genetics Services
Tubulinopathies v0.0 TUBGCP4 Zornitza Stark gene: TUBGCP4 was added
gene: TUBGCP4 was added to Tubulinopathies_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TUBGCP4 was set to Unknown
Tubulinopathies v0.0 TUBG1 Zornitza Stark gene: TUBG1 was added
gene: TUBG1 was added to Tubulinopathies_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TUBG1 was set to Unknown
Tubulinopathies v0.0 TUBB3 Zornitza Stark gene: TUBB3 was added
gene: TUBB3 was added to Tubulinopathies_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TUBB3 was set to Unknown
Tubulinopathies v0.0 TUBB2B Zornitza Stark gene: TUBB2B was added
gene: TUBB2B was added to Tubulinopathies_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TUBB2B was set to Unknown
Tubulinopathies v0.0 TUBB2A Zornitza Stark gene: TUBB2A was added
gene: TUBB2A was added to Tubulinopathies_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TUBB2A was set to Unknown
Tubulinopathies v0.0 TUBB Zornitza Stark gene: TUBB was added
gene: TUBB was added to Tubulinopathies_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TUBB was set to Unknown
Tubulinopathies v0.0 TUBA8 Zornitza Stark gene: TUBA8 was added
gene: TUBA8 was added to Tubulinopathies_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TUBA8 was set to Unknown
Tubulinopathies v0.0 TUBA1A Zornitza Stark gene: TUBA1A was added
gene: TUBA1A was added to Tubulinopathies_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TUBA1A was set to Unknown
Tubulinopathies v0.0 Zornitza Stark Added panel Tubulinopathies_AustralianGenomics_VCGS