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Mackenzie's Mission_Reproductive Carrier Screening v0.0 EXOSC3 Zornitza Stark gene: EXOSC3 was added
gene: EXOSC3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EXOSC3 were set to Pontocerebellar hypoplasia, type 1B, 614678 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EVC2 Zornitza Stark gene: EVC2 was added
gene: EVC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EVC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EVC2 were set to Ellis-van Creveld syndrome, 225500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EVC Zornitza Stark gene: EVC was added
gene: EVC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EVC were set to Ellis-van Creveld syndrome, 225500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ETHE1 Zornitza Stark gene: ETHE1 was added
gene: ETHE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETHE1 were set to Ethylmalonic encephalopathy, 602473 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ETFDH Zornitza Stark gene: ETFDH was added
gene: ETFDH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFDH were set to Glutaric acidemia IIC, 231680 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ETFB Zornitza Stark gene: ETFB was added
gene: ETFB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFB were set to Glutaric acidemia IIB, 231680 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ETFA Zornitza Stark gene: ETFA was added
gene: ETFA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFA were set to Glutaric acidemia IIA, 231680 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ESCO2 Zornitza Stark gene: ESCO2 was added
gene: ESCO2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ESCO2 were set to SC phocomelia syndrome, 269000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ERCC8 Zornitza Stark gene: ERCC8 was added
gene: ERCC8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC8 were set to Cockayne syndrome, type A, 216400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ERCC6L2 Zornitza Stark gene: ERCC6L2 was added
gene: ERCC6L2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ERCC6L2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC6L2 were set to Bone marrow failure syndrome 2, 615715 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ERCC6 Zornitza Stark gene: ERCC6 was added
gene: ERCC6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC6 were set to Cockayne syndrome, type B, 133540 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ERCC5 Zornitza Stark gene: ERCC5 was added
gene: ERCC5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC5 were set to Xeroderma pigmentosum, group G, 278780 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ERCC4 Zornitza Stark gene: ERCC4 was added
gene: ERCC4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC4 were set to Fanconi anemia, complementation group Q, 615272 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ERCC2 Zornitza Stark gene: ERCC2 was added
gene: ERCC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC2 were set to Cerebrooculofacioskeletal syndrome 2, 610756 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ERBB3 Zornitza Stark gene: ERBB3 was added
gene: ERBB3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ERBB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERBB3 were set to Lethal congenital contractural syndrome 2, 607598 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EPM2A Zornitza Stark gene: EPM2A was added
gene: EPM2A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EPM2A were set to Epilepsy, progressive myoclonic 2A (Lafora), 254780 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EPG5 Zornitza Stark gene: EPG5 was added
gene: EPG5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EPG5 were set to Vici syndrome, 242840 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EPCAM Zornitza Stark gene: EPCAM was added
gene: EPCAM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EPCAM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EPCAM were set to Diarrhea 5, with tufting enteropathy, congenital, 613217 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EOGT Zornitza Stark gene: EOGT was added
gene: EOGT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EOGT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EOGT were set to Adams-Oliver syndrome 4, 615297 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ENPP1 Zornitza Stark gene: ENPP1 was added
gene: ENPP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ENPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ENPP1 were set to Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EML1 Zornitza Stark gene: EML1 was added
gene: EML1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EML1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EML1 were set to Band heterotopia, 600348 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EMG1 Zornitza Stark gene: EMG1 was added
gene: EMG1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EMG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EMG1 were set to Bowen-Conradi syndrome, 211180 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EMD Zornitza Stark gene: EMD was added
gene: EMD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ELP2 Zornitza Stark gene: ELP2 was added
gene: ELP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ELP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ELP2 were set to Mental retardation, autosomal recessive 58, 617270 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ELP1 Zornitza Stark gene: ELP1 was added
gene: ELP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ELP1 were set to Dysautonomia, familial, 223900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ELAC2 Zornitza Stark gene: ELAC2 was added
gene: ELAC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ELAC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ELAC2 were set to Combined oxidative phosphorylation deficiency 17, 615440 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EIF2S3 Zornitza Stark gene: EIF2S3 was added
gene: EIF2S3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EIF2S3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: EIF2S3 were set to MEHMO syndrome, 300148 (3), X-linked recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EIF2B5 Zornitza Stark gene: EIF2B5 was added
gene: EIF2B5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B5 were set to Leukoencephalopathy with vanishing white matter, 603896 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EIF2B4 Zornitza Stark gene: EIF2B4 was added
gene: EIF2B4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EIF2B4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B4 were set to Leukoencephaly with vanishing white matter, 603896 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EIF2B3 Zornitza Stark gene: EIF2B3 was added
gene: EIF2B3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EIF2B3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B3 were set to Leukoencephalopathy with vanishing white matter, 603896 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EIF2B2 Zornitza Stark gene: EIF2B2 was added
gene: EIF2B2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B2 were set to Leukoencephalopathy with vanishing white matter, 603896 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EIF2B1 Zornitza Stark gene: EIF2B1 was added
gene: EIF2B1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EIF2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B1 were set to Leukoencephalopathy with vanishing white matter, 603896 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EIF2AK4 Zornitza Stark gene: EIF2AK4 was added
gene: EIF2AK4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EIF2AK4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2AK4 were set to Pulmonary venoocclusive disease 2, 234810 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EIF2AK3 Zornitza Stark gene: EIF2AK3 was added
gene: EIF2AK3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EIF2AK3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2AK3 were set to Wolcott-Rallison syndrome, 226980 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EFNB1 Zornitza Stark gene: EFNB1 was added
gene: EFNB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EFNB1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: EFNB1 were set to Craniofrontonasal dysplasia, 304110 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EFEMP2 Zornitza Stark gene: EFEMP2 was added
gene: EFEMP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EFEMP2 were set to Cutis laxa, autosomal recessive, type IB, 614437 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EDAR Zornitza Stark gene: EDAR was added
gene: EDAR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EDAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EDAR were set to Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EDA Zornitza Stark gene: EDA was added
gene: EDA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EDA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EDA were set to Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ECHS1 Zornitza Stark gene: ECHS1 was added
gene: ECHS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ECHS1 were set to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ECEL1 Zornitza Stark gene: ECEL1 was added
gene: ECEL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ECEL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ECEL1 were set to Arthrogryposis, distal, type 5D, 615065 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EARS2 Zornitza Stark gene: EARS2 was added
gene: EARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EARS2 were set to Combined oxidative phosphorylation deficiency 12, 614924 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DYSF Zornitza Stark gene: DYSF was added
gene: DYSF was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DYSF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYSF were set to Muscular dystrophy, limb-girdle, type 2B, 253601 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DYNC2LI1 Zornitza Stark gene: DYNC2LI1 was added
gene: DYNC2LI1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DYNC2LI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYNC2LI1 were set to Short-rib thoracic dysplasia 15 with polydactyly, 617088 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DYNC2H1 Zornitza Stark gene: DYNC2H1 was added
gene: DYNC2H1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYNC2H1 were set to Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DYM Zornitza Stark gene: DYM was added
gene: DYM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DYM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYM were set to Dyggve-Melchior-Clausen disease, 223800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DSTYK Zornitza Stark gene: DSTYK was added
gene: DSTYK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DSTYK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DSTYK were set to Spastic paraplegia 23, 270750 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DSP Zornitza Stark gene: DSP was added
gene: DSP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DSP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DSP were set to Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DPH1 Zornitza Stark gene: DPH1 was added
gene: DPH1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPH1 were set to Developmental delay with short stature, dysmorphic features, and sparse hair, 616901 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DPAGT1 Zornitza Stark gene: DPAGT1 was added
gene: DPAGT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPAGT1 were set to Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DONSON Zornitza Stark gene: DONSON was added
gene: DONSON was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DONSON was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DONSON were set to Microcephaly, short stature, and limb abnormalities, 617604 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DOLK Zornitza Stark gene: DOLK was added
gene: DOLK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOLK were set to Congenital disorder of glycosylation, type Im, 610768 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DOK7 Zornitza Stark gene: DOK7 was added
gene: DOK7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOK7 were set to Myasthenic syndrome, congenital, 10, 254300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DOCK8 Zornitza Stark gene: DOCK8 was added
gene: DOCK8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DOCK8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOCK8 were set to Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DOCK6 Zornitza Stark gene: DOCK6 was added
gene: DOCK6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DOCK6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOCK6 were set to Adams-Oliver syndrome 2, 614219 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DOCK2 Zornitza Stark gene: DOCK2 was added
gene: DOCK2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DOCK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOCK2 were set to Immunodeficiency 40, 616433 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DNMT3B Zornitza Stark gene: DNMT3B was added
gene: DNMT3B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNMT3B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNMT3B were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DNAJC6 Zornitza Stark gene: DNAJC6 was added
gene: DNAJC6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAJC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJC6 were set to Parkinson disease 19, juvenile-onset, 615528 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DNAJC21 Zornitza Stark gene: DNAJC21 was added
gene: DNAJC21 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAJC21 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJC21 were set to Bone marrow failure syndrome 3, 617052 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DNAJC19 Zornitza Stark gene: DNAJC19 was added
gene: DNAJC19 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJC19 were set to 3-methylglutaconic aciduria, type V, 610198 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DNAJC12 Zornitza Stark gene: DNAJC12 was added
gene: DNAJC12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJC12 were set to Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DNAI2 Zornitza Stark gene: DNAI2 was added
gene: DNAI2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAI2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAI2 were set to Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DNAI1 Zornitza Stark gene: DNAI1 was added
gene: DNAI1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAI1 were set to Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DNAH5 Zornitza Stark gene: DNAH5 was added
gene: DNAH5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAH5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAH5 were set to Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DNAH11 Zornitza Stark gene: DNAH11 was added
gene: DNAH11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAH11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAH11 were set to Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DNAAF5 Zornitza Stark gene: DNAAF5 was added
gene: DNAAF5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAAF5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF5 were set to Ciliary dyskinesia, primary, 18, 614874 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DNAAF4 Zornitza Stark gene: DNAAF4 was added
gene: DNAAF4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAAF4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF4 were set to Ciliary dyskinesia, primary, 25, 615482 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DNAAF3 Zornitza Stark gene: DNAAF3 was added
gene: DNAAF3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAAF3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF3 were set to Ciliary dyskinesia, primary, 2, 606763 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DNAAF1 Zornitza Stark gene: DNAAF1 was added
gene: DNAAF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF1 were set to Ciliary dyskinesia, primary, 13, 613193 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DMD Zornitza Stark gene: DMD was added
gene: DMD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DMD were set to Duchenne muscular dystrophy, 310200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DLL3 Zornitza Stark gene: DLL3 was added
gene: DLL3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DLL3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLL3 were set to Spondylocostal dysostosis 1, autosomal recessive, 277300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DLG3 Zornitza Stark gene: DLG3 was added
gene: DLG3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DLG3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DLG3 were set to Mental retardation, X-linked 90, 300850 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DLD Zornitza Stark gene: DLD was added
gene: DLD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLD were set to Dihydrolipoamide dehydrogenase deficiency, 246900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DKC1 Zornitza Stark gene: DKC1 was added
gene: DKC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DKC1 were set to Dyskeratosis congenita, X-linked, 305000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DIS3L2 Zornitza Stark gene: DIS3L2 was added
gene: DIS3L2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DIS3L2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DIS3L2 were set to Perlman syndrome, 267000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DHODH Zornitza Stark gene: DHODH was added
gene: DHODH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DHODH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHODH were set to Miller syndrome, 263750 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DHDDS Zornitza Stark gene: DHDDS was added
gene: DHDDS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DHDDS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHDDS were set to Retinitis pigmentosa 59, 613861 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DHCR7 Zornitza Stark gene: DHCR7 was added
gene: DHCR7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome, 270400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DHCR24 Zornitza Stark gene: DHCR24 was added
gene: DHCR24 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHCR24 were set to Desmosterolosis, 602398 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DGUOK Zornitza Stark gene: DGUOK was added
gene: DGUOK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
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 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DGKE Zornitza Stark gene: DGKE was added
gene: DGKE was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DGKE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DGKE were set to Nephrotic syndrome, type 7, 615008 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DGAT1 Zornitza Stark gene: DGAT1 was added
gene: DGAT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DGAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DGAT1 were set to ?Diarrhea 7, protein-losing enteropathy type
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DENND5A Zornitza Stark gene: DENND5A was added
gene: DENND5A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DENND5A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DENND5A were set to Epileptic encephalopathy, early infantile, 49, 617281 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DDX59 Zornitza Stark gene: DDX59 was added
gene: DDX59 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DDX59 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDX59 were set to Orofaciodigital syndrome V, 174300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DDX11 Zornitza Stark gene: DDX11 was added
gene: DDX11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DDX11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDX11 were set to Warsaw breakage syndrome, 613398 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DDR2 Zornitza Stark gene: DDR2 was added
gene: DDR2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DDR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDR2 were set to Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DDHD2 Zornitza Stark gene: DDHD2 was added
gene: DDHD2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DDHD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDHD2 were set to Spastic paraplegia 54, autosomal recessive, 615033 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DDC Zornitza Stark gene: DDC was added
gene: DDC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDC were set to Aromatic L-amino acid decarboxylase deficiency, 608643 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DCX Zornitza Stark gene: DCX was added
gene: DCX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DCX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DCX were set to Lissencephaly, X-linked, 300067 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DCLRE1C Zornitza Stark gene: DCLRE1C was added
gene: DCLRE1C was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DCLRE1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCLRE1C were set to Severe combined immunodeficiency, Athabascan type, 602450 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DCHS1 Zornitza Stark gene: DCHS1 was added
gene: DCHS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DCHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCHS1 were set to Van Maldergem syndrome 1, 601390 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DCDC2 Zornitza Stark gene: DCDC2 was added
gene: DCDC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DCDC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCDC2 were set to Nephronophthisis 19, 616217 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DCAF17 Zornitza Stark gene: DCAF17 was added
gene: DCAF17 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCAF17 were set to Woodhouse-Sakati syndrome, 241080 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DBT Zornitza Stark gene: DBT was added
gene: DBT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DBT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DBT were set to Maple syrup urine disease, type II, 248600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DARS2 Zornitza Stark gene: DARS2 was added
gene: DARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DARS2 were set to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DARS Zornitza Stark gene: DARS was added
gene: DARS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DARS were set to Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 D2HGDH Zornitza Stark gene: D2HGDH was added
gene: D2HGDH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: D2HGDH were set to D-2-hydroxyglutaric aciduria, 600721 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CYP7B1 Zornitza Stark gene: CYP7B1 was added
gene: CYP7B1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP7B1 were set to Bile acid synthesis defect, congenital, 3, 613812 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CYP4F22 Zornitza Stark gene: CYP4F22 was added
gene: CYP4F22 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYP4F22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP4F22 were set to Ichthyosis, congenital, autosomal recessive 5, 604777 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CYP2U1 Zornitza Stark gene: CYP2U1 was added
gene: CYP2U1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP2U1 were set to Spastic paraplegia 56, autosomal recessive, 615030 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CYP27A1 Zornitza Stark gene: CYP27A1 was added
gene: CYP27A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis, 213700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CYP1B1 Zornitza Stark gene: CYP1B1 was added
gene: CYP1B1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYP1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP1B1 were set to Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CYP17A1 Zornitza Stark gene: CYP17A1 was added
gene: CYP17A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYP17A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP17A1 were set to 17,20-lyase deficiency, isolated, 202110 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CYP11B2 Zornitza Stark gene: CYP11B2 was added
gene: CYP11B2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYP11B2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP11B2 were set to Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CYP11A1 Zornitza Stark gene: CYP11A1 was added
gene: CYP11A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYP11A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP11A1 were set to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CYBB Zornitza Stark gene: CYBB was added
gene: CYBB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYBB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CYBB were set to Chronic granulomatous disease, X-linked, 306400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CYBA Zornitza Stark gene: CYBA was added
gene: CYBA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYBA were set to Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CYB5R3 Zornitza Stark gene: CYB5R3 was added
gene: CYB5R3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYB5R3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYB5R3 were set to Methemoglobinemia, type I, 250800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CWC27 Zornitza Stark gene: CWC27 was added
gene: CWC27 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CWC27 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CWC27 were set to Retinitis pigmentosa with or without skeletal anomalies, 250410 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CUL7 Zornitza Stark gene: CUL7 was added
gene: CUL7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CUL7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CUL7 were set to 3-M syndrome 1, 273750 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CUL4B Zornitza Stark gene: CUL4B was added
gene: CUL4B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CUL4B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CUL4B were set to Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CTSK Zornitza Stark gene: CTSK was added
gene: CTSK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSK were set to Pycnodysostosis, 265800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CTSF Zornitza Stark gene: CTSF was added
gene: CTSF was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CTSF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSF were set to Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CTSD Zornitza Stark gene: CTSD was added
gene: CTSD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CTSD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSD were set to Ceroid lipofuscinosis, neuronal, 10, 610127 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CTSC Zornitza Stark gene: CTSC was added
gene: CTSC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSC were set to Papillon-Lefevre syndrome, 245000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CTSA Zornitza Stark gene: CTSA was added
gene: CTSA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CTSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSA were set to Galactosialidosis, 256540 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CTPS1 Zornitza Stark gene: CTPS1 was added
gene: CTPS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CTPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTPS1 were set to Immunodeficiency 24, 615897 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CTNS Zornitza Stark gene: CTNS was added
gene: CTNS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTNS were set to Cystinosis, nephropathic, 219800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CTC1 Zornitza Stark gene: CTC1 was added
gene: CTC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTC1 were set to Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CSTB Zornitza Stark gene: CSTB was added
gene: CSTB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSTB were set to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CSPP1 Zornitza Stark gene: CSPP1 was added
gene: CSPP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSPP1 were set to Joubert syndrome 21, 615636 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CRTAP Zornitza Stark gene: CRTAP was added
gene: CRTAP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CRTAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRTAP were set to Osteogenesis imperfecta, type VII, 610682 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ISPD Zornitza Stark gene: ISPD was added
gene: ISPD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ISPD were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CRLF1 Zornitza Stark gene: CRLF1 was added
gene: CRLF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CRLF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRLF1 were set to Cold-induced sweating syndrome 1, 272430 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CRB2 Zornitza Stark gene: CRB2 was added
gene: CRB2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CRB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRB2 were set to Ventriculomegaly with cystic kidney disease, 219730 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CRB1 Zornitza Stark gene: CRB1 was added
gene: CRB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CRB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRB1 were set to Leber congenital amaurosis 8, 613835 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CPT2 Zornitza Stark gene: CPT2 was added
gene: CPT2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPT2 were set to CPT II deficiency, lethal neonatal, 608836 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CPT1A Zornitza Stark gene: CPT1A was added
gene: CPT1A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPT1A were set to CPT deficiency, hepatic, type IA, 255120 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CPS1 Zornitza Stark gene: CPS1 was added
gene: CPS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPS1 were set to Carbamoylphosphate synthetase I deficiency, 237300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 C5orf42 Zornitza Stark gene: C5orf42 was added
gene: C5orf42 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C5orf42 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C5orf42 were set to Joubert syndrome 17, 614615 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COX20 Zornitza Stark gene: COX20 was added
gene: COX20 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COX20 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX20 were set to Mitochondrial complex IV deficiency, 220110 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COX15 Zornitza Stark gene: COX15 was added
gene: COX15 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COX15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX15 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COX10 Zornitza Stark gene: COX10 was added
gene: COX10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX10 were set to Leigh syndrome due to mitochondrial COX4 deficiency, 256000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COQ8B Zornitza Stark gene: COQ8B was added
gene: COQ8B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COQ8B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ8B were set to Nephrotic syndrome, type 9, 615573 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COQ8A Zornitza Stark gene: COQ8A was added
gene: COQ8A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, primary, 4, 612016 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COQ6 Zornitza Stark gene: COQ6 was added
gene: COQ6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COQ6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ6 were set to Coenzyme Q10 deficiency, primary, 6, 614650 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COQ4 Zornitza Stark gene: COQ4 was added
gene: COQ4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ4 were set to Coenzyme Q10 deficiency, primary, 7, 616276 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COQ2 Zornitza Stark gene: COQ2 was added
gene: COQ2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ2 were set to Coenzyme Q10 deficiency, primary, 1, 607426 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COLQ Zornitza Stark gene: COLQ was added
gene: COLQ was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COLQ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COLQ were set to Myasthenic syndrome, congenital, 5, 603034 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COLEC11 Zornitza Stark gene: COLEC11 was added
gene: COLEC11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COLEC11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COLEC11 were set to 3MC syndrome 2, 265050 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COL7A1 Zornitza Stark gene: COL7A1 was added
gene: COL7A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL7A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL7A1 were set to Epidermolysis bullosa dystrophica, AR, 226600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COL6A3 Zornitza Stark gene: COL6A3 was added
gene: COL6A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL6A3 were set to Ullrich congenital muscular dystrophy 1, 254090 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COL6A2 Zornitza Stark gene: COL6A2 was added
gene: COL6A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL6A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL6A2 were set to Ullrich congenital muscular dystrophy 1, 254090 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COL6A1 Zornitza Stark gene: COL6A1 was added
gene: COL6A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL6A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL6A1 were set to Ullrich congenital muscular dystrophy 1, 254090 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COL4A5 Zornitza Stark gene: COL4A5 was added
gene: COL4A5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL4A5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: COL4A5 were set to Alport syndrome 1, X-linked
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COL4A4 Zornitza Stark gene: COL4A4 was added
gene: COL4A4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL4A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL4A4 were set to Alport syndrome, autosomal recessive, 203780 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COL4A3 Zornitza Stark gene: COL4A3 was added
gene: COL4A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL4A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL4A3 were set to Alport syndrome, autosomal recessive, 203780 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COL2A1 Zornitza Stark gene: COL2A1 was added
gene: COL2A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL2A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL2A1 were set to Otospondylomegaepiphyseal dysplasia, 215150 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COL27A1 Zornitza Stark gene: COL27A1 was added
gene: COL27A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL27A1 were set to Steel Syndrome
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COL18A1 Zornitza Stark gene: COL18A1 was added
gene: COL18A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL18A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL18A1 were set to Knobloch syndrome, type 1, 267750 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COL17A1 Zornitza Stark gene: COL17A1 was added
gene: COL17A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL17A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL17A1 were set to Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COL11A2 Zornitza Stark gene: COL11A2 was added
gene: COL11A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL11A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL11A2 were set to Fibrochondrogenesis 2, 614524 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COL11A1 Zornitza Stark gene: COL11A1 was added
gene: COL11A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL11A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL11A1 were set to Fibrochondrogenesis 1, 228520 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COG7 Zornitza Stark gene: COG7 was added
gene: COG7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COG7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COG7 were set to Congenital disorder of glycosylation, type IIe, 608779 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COG6 Zornitza Stark gene: COG6 was added
gene: COG6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COG6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COG6 were set to Congenital disorder of glycosylation, type IIl, 614576 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 APOPT1 Zornitza Stark gene: APOPT1 was added
gene: APOPT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: APOPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APOPT1 were set to Mitochondrial complex IV deficiency, 220110 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CNTNAP2 Zornitza Stark gene: CNTNAP2 was added
gene: CNTNAP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CNTNAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNTNAP2 were set to Cortical dysplasia-focal epilepsy syndrome, 610042 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CNTNAP1 Zornitza Stark gene: CNTNAP1 was added
gene: CNTNAP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CNTNAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNTNAP1 were set to Lethal congenital contracture syndrome 7, 616286 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CNNM4 Zornitza Stark gene: CNNM4 was added
gene: CNNM4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CNNM4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNNM4 were set to Jalili syndrome, 217080 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CNGB3 Zornitza Stark gene: CNGB3 was added
gene: CNGB3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CNGB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNGB3 were set to Macular degeneration, juvenile, 248200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CNGA3 Zornitza Stark gene: CNGA3 was added
gene: CNGA3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CNGA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNGA3 were set to Achromatopsia-2, 216900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLRN1 Zornitza Stark gene: CLRN1 was added
gene: CLRN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLRN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLRN1 were set to Usher syndrome, type 3A, 276902 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLPP Zornitza Stark gene: CLPP was added
gene: CLPP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLPP were set to Perrault syndrome 3, 614129 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLPB Zornitza Stark gene: CLPB was added
gene: CLPB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLPB were set to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLP1 Zornitza Stark gene: CLP1 was added
gene: CLP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLP1 were set to Pontocerebellar hypoplasia, type 10, 615803 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLN8 Zornitza Stark gene: CLN8 was added
gene: CLN8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN8 were set to Ceroid lipofuscinosis, neuronal, 8, 600143 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLN6 Zornitza Stark gene: CLN6 was added
gene: CLN6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN6 were set to Ceroid lipofuscinosis, neuronal 6, 601780 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLN5 Zornitza Stark gene: CLN5 was added
gene: CLN5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN5 were set to Ceroid lipofuscinosis, neuronal, 5, 256731 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLN3 Zornitza Stark gene: CLN3 was added
gene: CLN3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN3 were set to Ceroid lipofuscinosis, neuronal, 3, 204200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLMP Zornitza Stark gene: CLMP was added
gene: CLMP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLMP were set to Congenital short bowel syndrome, 615237 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLDN19 Zornitza Stark gene: CLDN19 was added
gene: CLDN19 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLDN19 were set to Hypomagnesemia 5, renal, with ocular involvement, 248190 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLDN10 Zornitza Stark gene: CLDN10 was added
gene: CLDN10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLDN10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLDN10 were set to HELIX syndrome, 617671 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLDN1 Zornitza Stark gene: CLDN1 was added
gene: CLDN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLDN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLDN1 were set to Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLCNKB Zornitza Stark gene: CLCNKB was added
gene: CLCNKB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLCNKB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLCNKB were set to Bartter syndrome, type 4b, digenic, 613090 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLCN7 Zornitza Stark gene: CLCN7 was added
gene: CLCN7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLCN7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLCN7 were set to Osteopetrosis, autosomal recessive 4, 611490 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLCN5 Zornitza Stark gene: CLCN5 was added
gene: CLCN5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CLCN5 were set to Dent disease, 300009 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLCN4 Zornitza Stark gene: CLCN4 was added
gene: CLCN4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLCN4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CLCN4 were set to Mental retardation, X-linked 49/15, 300114 (3), X-linked recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLCN2 Zornitza Stark gene: CLCN2 was added
gene: CLCN2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLCN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLCN2 were set to Leukoencephalopathy with ataxia, 615651 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLCF1 Zornitza Stark gene: CLCF1 was added
gene: CLCF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLCF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLCF1 were set to Cold-induced sweating syndrome 2, 610313 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CKAP2L Zornitza Stark gene: CKAP2L was added
gene: CKAP2L was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CKAP2L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CKAP2L were set to Filippi syndrome, 272440 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CIT Zornitza Stark gene: CIT was added
gene: CIT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CIT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CIT were set to Microcephaly 17, primary, autosomal recessive, 617090 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CISD2 Zornitza Stark gene: CISD2 was added
gene: CISD2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CISD2 were set to Wolfram syndrome 2, 604928 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CIITA Zornitza Stark gene: CIITA was added
gene: CIITA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CIITA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CIITA were set to Bare lymphocyte syndrome, type II, complementation group A, 209920 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CIB2 Zornitza Stark gene: CIB2 was added
gene: CIB2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CIB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CIB2 were set to Usher syndrome, type IJ, 614869 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CHSY1 Zornitza Stark gene: CHSY1 was added
gene: CHSY1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CHSY1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHSY1 were set to Temtamy preaxial brachydactyly syndrome, 605282 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CHST3 Zornitza Stark gene: CHST3 was added
gene: CHST3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHST3 were set to Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CHST14 Zornitza Stark gene: CHST14 was added
gene: CHST14 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CHST14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHST14 were set to Ehlers-Danlos syndrome, musculocontractural type 1, 601776 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CHRNG Zornitza Stark gene: CHRNG was added
gene: CHRNG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNG were set to Escobar syndrome, 265000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CHRNE Zornitza Stark gene: CHRNE was added
gene: CHRNE was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CHRNE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNE were set to Myasthenic syndrome, congenital, 4A, slow-channel, 605809 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CHRND Zornitza Stark gene: CHRND was added
gene: CHRND was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CHRND was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRND were set to Myasthenic syndrome, congenital, 3B, fast-channel, 616322 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CHRNA1 Zornitza Stark gene: CHRNA1 was added
gene: CHRNA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CHRNA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNA1 were set to Multiple pterygium syndrome, lethal type, 253290 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CHM Zornitza Stark gene: CHM was added
gene: CHM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CHM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CHM were set to Choroideremia
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CHKB Zornitza Stark gene: CHKB was added
gene: CHKB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type, 602541 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CHAT Zornitza Stark gene: CHAT was added
gene: CHAT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CHAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHAT were set to Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CFTR Zornitza Stark gene: CFTR was added
gene: CFTR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFTR were set to Cystic fibrosis, 219700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CFP Zornitza Stark gene: CFP was added
gene: CFP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CFP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CFP were set to Properdin deficiency, X-linked, 312060 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CFL2 Zornitza Stark gene: CFL2 was added
gene: CFL2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CFL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFL2 were set to Nemaline myopathy 7, autosomal recessive, 610687 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CFI Zornitza Stark gene: CFI was added
gene: CFI was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CFI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFI were set to Complement factor I deficiency, 610984 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CFH Zornitza Stark gene: CFH was added
gene: CFH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CFH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFH were set to Complement factor H deficiency, 609814 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CFD Zornitza Stark gene: CFD was added
gene: CFD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CFD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFD were set to Complement factor D deficiency, 613912 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 C21orf2 Zornitza Stark gene: C21orf2 was added
gene: C21orf2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C21orf2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C21orf2 were set to Retinal dystrophy with macular staphyloma, 617547 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CERS3 Zornitza Stark gene: CERS3 was added
gene: CERS3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CERS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CERS3 were set to Ichthyosis, congenital, autosomal recessive 9, 615023 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CEP78 Zornitza Stark gene: CEP78 was added
gene: CEP78 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CEP78 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP78 were set to Cone-rod dystrophy and hearing loss, 617236 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CEP41 Zornitza Stark gene: CEP41 was added
gene: CEP41 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CEP41 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP41 were set to Joubert syndrome 15, 614464 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CEP290 Zornitza Stark gene: CEP290 was added
gene: CEP290 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP290 were set to Joubert syndrome 5, 610188 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CEP152 Zornitza Stark gene: CEP152 was added
gene: CEP152 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CEP152 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP152 were set to Seckel syndrome 5, 613823 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CEP120 Zornitza Stark gene: CEP120 was added
gene: CEP120 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CEP120 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP120 were set to Short-rib thoracic dysplasia 13 with or without polydactyly, 616300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CENPJ Zornitza Stark gene: CENPJ was added
gene: CENPJ was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CENPJ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CENPJ were set to Microcephaly 6, primary, autosomal recessive, 608393 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CDT1 Zornitza Stark gene: CDT1 was added
gene: CDT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CDT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDT1 were set to Meier-Gorlin syndrome 4, 613804 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CDK5RAP2 Zornitza Stark gene: CDK5RAP2 was added
gene: CDK5RAP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CDK5RAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDK5RAP2 were set to Microcephaly 3, primary, autosomal recessive, 604804 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CDK10 Zornitza Stark gene: CDK10 was added
gene: CDK10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CDK10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDK10 were set to Al Kaissi syndrome, 617694 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CDH3 Zornitza Stark gene: CDH3 was added
gene: CDH3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CDH3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDH3 were set to Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CDH23 Zornitza Stark gene: CDH23 was added
gene: CDH23 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CDH23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDH23 were set to Usher syndrome, type 1D, 601067 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CDH11 Zornitza Stark gene: CDH11 was added
gene: CDH11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CDH11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDH11 were set to Elsahy-Waters syndrome, 211380 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CDC45 Zornitza Stark gene: CDC45 was added
gene: CDC45 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CDC45 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDC45 were set to Meier-Gorlin syndrome 7, 617063 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CD81 Zornitza Stark gene: CD81 was added
gene: CD81 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CD81 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD81 were set to Immunodeficiency, common variable, 6, 613496 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CD55 Zornitza Stark gene: CD55 was added
gene: CD55 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CD55 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD55 were set to Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, 226300 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CD40LG Zornitza Stark gene: CD40LG was added
gene: CD40LG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CD40LG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CD40LG were set to Immunodeficiency, X-linked, with hyper-IgM, 308230 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CD40 Zornitza Stark gene: CD40 was added
gene: CD40 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CD40 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD40 were set to Immunodeficiency with hyper-IgM, type 3, 606843 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CD3D Zornitza Stark gene: CD3D was added
gene: CD3D was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CD3D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD3D were set to Immunodeficiency 19, 615617 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CD27 Zornitza Stark gene: CD27 was added
gene: CD27 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CD27 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD27 were set to Lymphoproliferative syndrome 2, 615122 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CCNO Zornitza Stark gene: CCNO was added
gene: CCNO was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CCNO was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCNO were set to Ciliary diskinesia, primary, 29, 615872 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WISP3 Zornitza Stark gene: WISP3 was added
gene: WISP3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WISP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WISP3 were set to Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CCDC88C Zornitza Stark gene: CCDC88C was added
gene: CCDC88C was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CCDC88C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC88C were set to Hydrocephalus, nonsyndromic, autosomal recessive, 236600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CCDC8 Zornitza Stark gene: CCDC8 was added
gene: CCDC8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CCDC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC8 were set to 3-M syndrome 3, 614205 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CCDC40 Zornitza Stark gene: CCDC40 was added
gene: CCDC40 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CCDC40 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC40 were set to Ciliary dyskinesia, primary, 15, 613808 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CCDC39 Zornitza Stark gene: CCDC39 was added
gene: CCDC39 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CCDC39 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC39 were set to Ciliary dyskinesia, primary, 14, 613807 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CCDC115 Zornitza Stark gene: CCDC115 was added
gene: CCDC115 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CCDC115 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC115 were set to Congenital disorder of glycosylation, type IIo, 616828 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CCDC114 Zornitza Stark gene: CCDC114 was added
gene: CCDC114 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CCDC114 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC114 were set to Ciliary dyskinesia, primary, 20, 615067 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CCDC103 Zornitza Stark gene: CCDC103 was added
gene: CCDC103 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CCDC103 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC103 were set to Ciliary dyskinesia, primary, 17, 614679 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CCBE1 Zornitza Stark gene: CCBE1 was added
gene: CCBE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CCBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCBE1 were set to Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CC2D2A Zornitza Stark gene: CC2D2A was added
gene: CC2D2A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CC2D2A were set to Joubert syndrome 9, 612285 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CC2D1A Zornitza Stark gene: CC2D1A was added
gene: CC2D1A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CC2D1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CC2D1A were set to Mental retardation, autosomal recessive 3, 608443 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CBS Zornitza Stark gene: CBS was added
gene: CBS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CBS were set to Homocystinuria, B6-responsive and nonresponsive types, 236200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CAVIN1 Zornitza Stark gene: CAVIN1 was added
gene: CAVIN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CAVIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CAVIN1 were set to Lipodystrophy, congenital generalized, type 4, 613327 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CASR Zornitza Stark gene: CASR was added
gene: CASR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CASR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CASR were set to Hyperparathyroidism, neonatal, 239200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CASQ2 Zornitza Stark gene: CASQ2 was added
gene: CASQ2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CASQ2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CASQ2 were set to Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CASK Zornitza Stark gene: CASK was added
gene: CASK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CASK were set to Mental retardation, with or without nystagmus
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CARS2 Zornitza Stark gene: CARS2 was added
gene: CARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CARS2 were set to Combined oxidative phosphorylation deficiency 27, 616672 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CARD9 Zornitza Stark gene: CARD9 was added
gene: CARD9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CARD9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CARD9 were set to Candidiasis, familial, 2, autosomal recessive, 212050 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CARD11 Zornitza Stark gene: CARD11 was added
gene: CARD11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CARD11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CARD11 were set to Immunodeficiency 11, 615206 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CAPN3 Zornitza Stark gene: CAPN3 was added
gene: CAPN3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CAPN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CAPN3 were set to Muscular dystrophy, limb-girdle, type 2A, 253600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CANT1 Zornitza Stark gene: CANT1 was added
gene: CANT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CANT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CANT1 were set to Desbuquois dysplasia, 251450 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CABP4 Zornitza Stark gene: CABP4 was added
gene: CABP4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CABP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CABP4 were set to Cone-rod synaptic disorder, congenital nonprogressive, 610427 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CA2 Zornitza Stark gene: CA2 was added
gene: CA2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CA2 were set to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 C8orf37 Zornitza Stark gene: C8orf37 was added
gene: C8orf37 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C8orf37 were set to Cone-rod dystrophy 16, 614500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 C8B Zornitza Stark gene: C8B was added
gene: C8B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C8B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C8B were set to C8 deficiency, type II, 613789 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 C7 Zornitza Stark gene: C7 was added
gene: C7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C7 were set to C7 deficiency, 610102 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 C6 Zornitza Stark gene: C6 was added
gene: C6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C6 were set to C6 deficiency, 612446 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 C5 Zornitza Stark gene: C5 was added
gene: C5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C5 were set to C5 deficiency, 609536 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 C3 Zornitza Stark gene: C3 was added
gene: C3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C3 were set to C3 deficiency, 613779 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 C2CD3 Zornitza Stark gene: C2CD3 was added
gene: C2CD3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C2CD3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C2CD3 were set to Orofaciodigital syndrome XIV
Mackenzie's Mission_Reproductive Carrier Screening v0.0 C1QC Zornitza Stark gene: C1QC was added
gene: C1QC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C1QC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C1QC were set to C1q deficiency, 613652 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 C1QB Zornitza Stark gene: C1QB was added
gene: C1QB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C1QB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C1QB were set to C1q deficiency, 613652 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 C1QA Zornitza Stark gene: C1QA was added
gene: C1QA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C1QA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C1QA were set to C1q deficiency, 613652 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 C19orf12 Zornitza Stark gene: C19orf12 was added
gene: C19orf12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C19orf12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C19orf12 were set to Neurodegeneration with brain iron accumulation 4, 614298 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 C12orf65 Zornitza Stark gene: C12orf65 was added
gene: C12orf65 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C12orf65 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C12orf65 were set to Combined oxidative phosphorylation deficiency 7, 613559 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 C12orf57 Zornitza Stark gene: C12orf57 was added
gene: C12orf57 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C12orf57 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C12orf57 were set to Temtamy syndrome, 218340 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BUB1B Zornitza Stark gene: BUB1B was added
gene: BUB1B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BUB1B were set to Mosaic variegated aneuploidy syndrome 1, 257300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BTK Zornitza Stark gene: BTK was added
gene: BTK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BTK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: BTK were set to Agammaglobulinemia and isolated hormone deficiency, 307200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BSND Zornitza Stark gene: BSND was added
gene: BSND was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BSND was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BSND were set to Bartter syndrome, type 4a, 602522 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BSCL2 Zornitza Stark gene: BSCL2 was added
gene: BSCL2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BSCL2 were set to Encephalopathy, progressive, with or without lipodystrophy, 615924 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BRWD3 Zornitza Stark gene: BRWD3 was added
gene: BRWD3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BRWD3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: BRWD3 were set to Mental retardation, X-linked 93, 300659 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BRF1 Zornitza Stark gene: BRF1 was added
gene: BRF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BRF1 were set to Cerebellofaciodental syndrome, 616202 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BRAT1 Zornitza Stark gene: BRAT1 was added
gene: BRAT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BRAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BRAT1 were set to Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BOLA3 Zornitza Stark gene: BOLA3 was added
gene: BOLA3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BOLA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BOLA3 were set to Multiple mitochondrial dysfunctions syndrome 2, 614299 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BMPR1B Zornitza Stark gene: BMPR1B was added
gene: BMPR1B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BMPR1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BMPR1B were set to Acromesomelic dysplasia, Demirhan type, 609441 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BMPER Zornitza Stark gene: BMPER was added
gene: BMPER was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BMPER was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BMPER were set to Diaphanospondylodysostosis, 608022 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BLM Zornitza Stark gene: BLM was added
gene: BLM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLM were set to Bloom syndrome, 210900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BIN1 Zornitza Stark gene: BIN1 was added
gene: BIN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BIN1 were set to Myopathy, centronuclear, autosomal recessive, 255200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BGN Zornitza Stark gene: BGN was added
gene: BGN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BGN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: BGN were set to Meester-Loeys syndrome, 300989 (3), X-linked
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BCS1L Zornitza Stark gene: BCS1L was added
gene: BCS1L was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCS1L were set to GRACILE syndrome, 603358 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BCKDK Zornitza Stark gene: BCKDK was added
gene: BCKDK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BCKDK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCKDK were set to Branched-chain ketoacid dehydrogenase kinase deficiency, 614923 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BCKDHB Zornitza Stark gene: BCKDHB was added
gene: BCKDHB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCKDHB were set to Maple syrup urine disease, type Ib, 248600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BCKDHA Zornitza Stark gene: BCKDHA was added
gene: BCKDHA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCKDHA were set to Maple syrup urine disease, type Ia, 248600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BBS9 Zornitza Stark gene: BBS9 was added
gene: BBS9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS9 were set to Bardet-Biedl syndrome 9, 615986 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BBS7 Zornitza Stark gene: BBS7 was added
gene: BBS7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS7 were set to Bardet-Biedl syndrome 7, 615984 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BBS5 Zornitza Stark gene: BBS5 was added
gene: BBS5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS5 were set to Bardet-Biedl syndrome 5, 615983 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BBS4 Zornitza Stark gene: BBS4 was added
gene: BBS4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS4 were set to Bardet-Biedl syndrome 4, 615982 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BBS2 Zornitza Stark gene: BBS2 was added
gene: BBS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS2 were set to Bardet-Biedl syndrome 2, 615981 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BBS12 Zornitza Stark gene: BBS12 was added
gene: BBS12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS12 were set to Bardet-Biedl syndrome 12, 615989 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BBS10 Zornitza Stark gene: BBS10 was added
gene: BBS10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS10 were set to Bardet-Biedl syndrome 10, 615987 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BBS1 Zornitza Stark gene: BBS1 was added
gene: BBS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS1 were set to Bardet-Biedl syndrome 1, 209900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 B4GALT7 Zornitza Stark gene: B4GALT7 was added
gene: B4GALT7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B4GALT7 were set to Ehlers-Danlos syndrome, progeroid type, 1, 130070 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 B4GALNT1 Zornitza Stark gene: B4GALNT1 was added
gene: B4GALNT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: B4GALNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B4GALNT1 were set to Spastic paraplegia 26, autosomal recessive, 609195 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 B3GLCT Zornitza Stark gene: B3GLCT was added
gene: B3GLCT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GLCT were set to Peters-plus syndrome, 261540 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 B3GAT3 Zornitza Stark gene: B3GAT3 was added
gene: B3GAT3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GAT3 were set to Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 B3GALT6 Zornitza Stark gene: B3GALT6 was added
gene: B3GALT6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: B3GALT6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GALT6 were set to Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 B3GALNT2 Zornitza Stark gene: B3GALNT2 was added
gene: B3GALNT2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: B3GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GALNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, 615181 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AUH Zornitza Stark gene: AUH was added
gene: AUH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AUH were set to 3-methylglutaconic aciduria, type I, 250950 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATRX Zornitza Stark gene: ATRX was added
gene: ATRX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATRX were set to Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATR Zornitza Stark gene: ATR was added
gene: ATR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATR were set to Seckel syndrome 1, 210600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATP8B1 Zornitza Stark gene: ATP8B1 was added
gene: ATP8B1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATP8B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP8B1 were set to Cholestasis, progressive familial intrahepatic 1, 211600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATP8A2 Zornitza Stark gene: ATP8A2 was added
gene: ATP8A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATP8A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP8A2 were set to ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATP7B Zornitza Stark gene: ATP7B was added
gene: ATP7B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP7B were set to Wilson disease, 277900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATP7A Zornitza Stark gene: ATP7A was added
gene: ATP7A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATP7A were set to Menkes disease, 309400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATP6V1B1 Zornitza Stark gene: ATP6V1B1 was added
gene: ATP6V1B1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP6V1B1 were set to Renal tubular acidosis with deafness, 267300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATP6V0A4 Zornitza Stark gene: ATP6V0A4 was added
gene: ATP6V0A4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATP6V0A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP6V0A4 were set to Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATP6V0A2 Zornitza Stark gene: ATP6V0A2 was added
gene: ATP6V0A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP6V0A2 were set to Cutis laxa, autosomal recessive, type IIA, 219200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATP6AP1 Zornitza Stark gene: ATP6AP1 was added
gene: ATP6AP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATP6AP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATP6AP1 were set to Immunodeficiency 47, 300972 (3), X-linked recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATP13A2 Zornitza Stark gene: ATP13A2 was added
gene: ATP13A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP13A2 were set to Spastic paraplegia 78, autosomal recessive, 617225 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATOH7 Zornitza Stark gene: ATOH7 was added
gene: ATOH7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATOH7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATOH7 were set to Persistent hyperplastic primary vitreous, autosomal recessive, 221900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATM Zornitza Stark gene: ATM was added
gene: ATM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATM were set to Ataxia-telangiectasia, 208900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATF6 Zornitza Stark gene: ATF6 was added
gene: ATF6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATF6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATF6 were set to Achromatopsia 7, 616517 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATCAY Zornitza Stark gene: ATCAY was added
gene: ATCAY was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATCAY was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATCAY were set to Ataxia, cerebellar, Cayman type, 601238 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATAD1 Zornitza Stark gene: ATAD1 was added
gene: ATAD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATAD1 were set to Hyperekplexia 4, 618011 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ASS1 Zornitza Stark gene: ASS1 was added
gene: ASS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASS1 were set to Citrullinemia, 215700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ASPM Zornitza Stark gene: ASPM was added
gene: ASPM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ASPM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASPM were set to Microcephaly 5, primary, autosomal recessive, 608716 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ASPA Zornitza Stark gene: ASPA was added
gene: ASPA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASPA were set to Canavan disease, 271900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ASNS Zornitza Stark gene: ASNS was added
gene: ASNS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASNS were set to Asparagine synthetase deficiency, 615574 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ASL Zornitza Stark gene: ASL was added
gene: ASL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASL were set to Argininosuccinic aciduria, 207900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ASCC1 Zornitza Stark gene: ASCC1 was added
gene: ASCC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ASCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASCC1 were set to Barrett esophagus/esophageal adenocarcinoma, 614266 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ASAH1 Zornitza Stark gene: ASAH1 was added
gene: ASAH1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASAH1 were set to Farber lipogranulomatosis, 228000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ARX Zornitza Stark gene: ARX was added
gene: ARX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ARX were set to Hydranencephaly with abnormal genitalia, 300215 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ARV1 Zornitza Stark gene: ARV1 was added
gene: ARV1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARV1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARV1 were set to Epileptic encephalopathy, early infantile, 38, 617020 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ARSB Zornitza Stark gene: ARSB was added
gene: ARSB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSB were set to Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ARSA Zornitza Stark gene: ARSA was added
gene: ARSA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSA were set to Metachromatic leukodystrophy, 250100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ARPC1B Zornitza Stark gene: ARPC1B was added
gene: ARPC1B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARPC1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARPC1B were set to Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ARMC4 Zornitza Stark gene: ARMC4 was added
gene: ARMC4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARMC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARMC4 were set to Ciliary dyskinesia, primary, 23, 615451 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ARL6 Zornitza Stark gene: ARL6 was added
gene: ARL6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARL6 were set to Bardet-Biedl syndrome 3, 600151 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ARL13B Zornitza Stark gene: ARL13B was added
gene: ARL13B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARL13B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARL13B were set to Joubert syndrome 8, 612291 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ARHGEF9 Zornitza Stark gene: ARHGEF9 was added
gene: ARHGEF9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARHGEF9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ARHGEF9 were set to Epileptic encephalopathy, early infantile, 8, 300607 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ARG1 Zornitza Stark gene: ARG1 was added
gene: ARG1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARG1 were set to Argininemia, 207800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ARFGEF2 Zornitza Stark gene: ARFGEF2 was added
gene: ARFGEF2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARFGEF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARFGEF2 were set to Periventricular heterotopia with microcephaly, 608097 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AQP2 Zornitza Stark gene: AQP2 was added
gene: AQP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AQP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AQP2 were set to Diabetes insipidus, nephrogenic, 125800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 APTX Zornitza Stark gene: APTX was added
gene: APTX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APTX were set to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AP4S1 Zornitza Stark gene: AP4S1 was added
gene: AP4S1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AP4S1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP4S1 were set to Spastic paraplegia 52, autosomal recessive, 614067 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AP4M1 Zornitza Stark gene: AP4M1 was added
gene: AP4M1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP4M1 were set to Spastic paraplegia 50, autosomal recessive, 612936 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AP4B1 Zornitza Stark gene: AP4B1 was added
gene: AP4B1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive, 614066 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AP3B2 Zornitza Stark gene: AP3B2 was added
gene: AP3B2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AP3B2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP3B2 were set to Epileptic encephalopathy, early infantile, 48, 617276 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AP1S2 Zornitza Stark gene: AP1S2 was added
gene: AP1S2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AP1S2 were set to Mental retardation, X-linked syndromic 5, 304340 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ANTXR2 Zornitza Stark gene: ANTXR2 was added
gene: ANTXR2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ANTXR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANTXR2 were set to Hyaline fibromatosis syndrome, 228600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ANTXR1 Zornitza Stark gene: ANTXR1 was added
gene: ANTXR1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ANTXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANTXR1 were set to GAPO syndrome, 230740 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ANKS6 Zornitza Stark gene: ANKS6 was added
gene: ANKS6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ANKS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANKS6 were set to Nephronophthisis 16, 615382 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AMT Zornitza Stark gene: AMT was added
gene: AMT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMT were set to Glycine encephalopathy, 605899 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AMPD2 Zornitza Stark gene: AMPD2 was added
gene: AMPD2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMPD2 were set to Pontocerebellar hypoplasia, type 9, 615809 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALS2 Zornitza Stark gene: ALS2 was added
gene: ALS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALS2 were set to Primary lateral sclerosis, juvenile, 606353 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALPL Zornitza Stark gene: ALPL was added
gene: ALPL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALPL were set to Hypophosphatasia, infantile, 241500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALOXE3 Zornitza Stark gene: ALOXE3 was added
gene: ALOXE3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALOXE3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALOXE3 were set to Ichthyosis, congenital, autosomal recessive 3, 606545 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALOX12B Zornitza Stark gene: ALOX12B was added
gene: ALOX12B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALOX12B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALOX12B were set to Ichthyosis, congenital, autosomal recessive 2, 242100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALMS1 Zornitza Stark gene: ALMS1 was added
gene: ALMS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALMS1 were set to Alstrom syndrome, 203800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALG9 Zornitza Stark gene: ALG9 was added
gene: ALG9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG9 were set to Congenital disorder of glycosylation, type Il, 608776 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALG8 Zornitza Stark gene: ALG8 was added
gene: ALG8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG8 were set to Congenital disorder of glycosylation, type Ih, 608104 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALG6 Zornitza Stark gene: ALG6 was added
gene: ALG6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALG6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG6 were set to Congenital disorder of glycosylation, type Ic, 603147 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALG3 Zornitza Stark gene: ALG3 was added
gene: ALG3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG3 were set to Congenital disorder of glycosylation, type Id, 601110 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALG2 Zornitza Stark gene: ALG2 was added
gene: ALG2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG2 were set to Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALG12 Zornitza Stark gene: ALG12 was added
gene: ALG12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALG12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG12 were set to Congenital disorder of glycosylation, type Ig, 607143 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALG11 Zornitza Stark gene: ALG11 was added
gene: ALG11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALG11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG11 were set to Congenital disorder of glycosylation, type Ip, 613661 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALG1 Zornitza Stark gene: ALG1 was added
gene: ALG1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG1 were set to Congenital disorder of glycosylation, type Ik, 608540 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALDOB Zornitza Stark gene: ALDOB was added
gene: ALDOB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDOB were set to Fructose intolerance, 229600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALDH7A1 Zornitza Stark gene: ALDH7A1 was added
gene: ALDH7A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH7A1 were set to Epilepsy, pyridoxine-dependent, 266100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALDH5A1 Zornitza Stark gene: ALDH5A1 was added
gene: ALDH5A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH5A1 were set to Succinic semialdehyde dehydrogenase deficiency, 271980 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALDH3A2 Zornitza Stark gene: ALDH3A2 was added
gene: ALDH3A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome, 270200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALDH1A3 Zornitza Stark gene: ALDH1A3 was added
gene: ALDH1A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALDH1A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH1A3 were set to Microphthalmia, isolated 8, 615113 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALDH18A1 Zornitza Stark gene: ALDH18A1 was added
gene: ALDH18A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALDH18A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH18A1 were set to Spastic paraplegia 9B, autosomal recessive, 616586 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALAD Zornitza Stark gene: ALAD was added
gene: ALAD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALAD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALAD were set to Porphyria, acute hepatic, 612740 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AKR1D1 Zornitza Stark gene: AKR1D1 was added
gene: AKR1D1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AKR1D1 were set to Bile acid synthesis defect, congenital, 2, 235555 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AK2 Zornitza Stark gene: AK2 was added
gene: AK2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AK2 were set to Reticular dysgenesis, 267500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AIPL1 Zornitza Stark gene: AIPL1 was added
gene: AIPL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AIPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AIPL1 were set to Cone-rod dystrophy, 604393 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AIMP1 Zornitza Stark gene: AIMP1 was added
gene: AIMP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AIMP1 were set to Leukodystrophy, hypomyelinating, 3, 260600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AIFM1 Zornitza Stark gene: AIFM1 was added
gene: AIFM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AIFM1 were set to Cowchock syndrome, 310490 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AHI1 Zornitza Stark gene: AHI1 was added
gene: AHI1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AHI1 were set to Joubert syndrome-3, 608629 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AGXT Zornitza Stark gene: AGXT was added
gene: AGXT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGXT were set to Hyperoxaluria, primary, type 1, 259900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AGT Zornitza Stark gene: AGT was added
gene: AGT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AGT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGT were set to Renal tubular dysgenesis, 267430 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AGRN Zornitza Stark gene: AGRN was added
gene: AGRN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AGRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGRN were set to Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AGPS Zornitza Stark gene: AGPS was added
gene: AGPS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGPS were set to Chondrodysplasia punctata, rhizomelic, type 3, 600121 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AGL Zornitza Stark gene: AGL was added
gene: AGL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGL were set to Glycogen storage disease IIIa, 232400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AGK Zornitza Stark gene: AGK was added
gene: AGK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGK were set to Sengers syndrome, 212350 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AGBL5 Zornitza Stark gene: AGBL5 was added
gene: AGBL5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AGBL5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGBL5 were set to Retinitis pigmentosa 75, 617023 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AGA Zornitza Stark gene: AGA was added
gene: AGA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGA were set to Aspartylglucosaminuria, 208400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ADSL Zornitza Stark gene: ADSL was added
gene: ADSL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADSL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADSL were set to Adenylosuccinase deficiency, 103050 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ADGRV1 Zornitza Stark gene: ADGRV1 was added
gene: ADGRV1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADGRV1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADGRV1 were set to Usher syndrome, type 2C, 605472 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ADGRG1 Zornitza Stark gene: ADGRG1 was added
gene: ADGRG1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADGRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADGRG1 were set to Polymicrogyria, bilateral frontoparietal, 606854 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ADAT3 Zornitza Stark gene: ADAT3 was added
gene: ADAT3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAT3 were set to Mental retardation, autosomal recessive 36, 615286 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ADAR Zornitza Stark gene: ADAR was added
gene: ADAR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6, 615010 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ADAMTSL2 Zornitza Stark gene: ADAMTSL2 was added
gene: ADAMTSL2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTSL2 were set to Geleophysic dysplasia 1, 231050 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ADAMTS2 Zornitza Stark gene: ADAMTS2 was added
gene: ADAMTS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADAMTS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTS2 were set to Ehlers-Danlos syndrome, type VIIC, 225410 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ADAMTS13 Zornitza Stark gene: ADAMTS13 was added
gene: ADAMTS13 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTS13 were set to Thrombotic thrombocytopenic purpura, familial, 274150 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ADA2 Zornitza Stark gene: ADA2 was added
gene: ADA2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADA2 were set to Polyarteritis nodosa, childhood-onset, 615688 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ADA Zornitza Stark gene: ADA was added
gene: ADA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADA were set to Adenosine deaminase deficiency, partial, 102700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ACTA1 Zornitza Stark gene: ACTA1 was added
gene: ACTA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ACTA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACTA1 were set to Myopathy, congenital, with fiber-type disproportion 1, 255310 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ACSF3 Zornitza Stark gene: ACSF3 was added
gene: ACSF3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ACSF3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACSF3 were set to Combined malonic and methylmalonic aciduria, 614265 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ACOX1 Zornitza Stark gene: ACOX1 was added
gene: ACOX1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ACOX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACOX1 were set to Peroxisomal acyl-CoA oxidase deficiency, 264470 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ACO2 Zornitza Stark gene: ACO2 was added
gene: ACO2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACO2 were set to Infantile cerebellar-retinal degeneration, 614559 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ACE Zornitza Stark gene: ACE was added
gene: ACE was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ACE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACE were set to Renal tubular dysgenesis, 267430 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ACAT1 Zornitza Stark gene: ACAT1 was added
gene: ACAT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAT1 were set to Alpha-methylacetoacetic aciduria, 203750 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ACADVL Zornitza Stark gene: ACADVL was added
gene: ACADVL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADVL were set to VLCAD deficiency, 201475 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ACAD9 Zornitza Stark gene: ACAD9 was added
gene: ACAD9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency due to ACAD9 deficiency, 611126 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ABHD5 Zornitza Stark gene: ABHD5 was added
gene: ABHD5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABHD5 were set to Chanarin-Dorfman syndrome, 275630 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ABCD1 Zornitza Stark gene: ABCD1 was added
gene: ABCD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ABCD1 were set to Adrenoleukodystrophy, 300100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ABCC8 Zornitza Stark gene: ABCC8 was added
gene: ABCC8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABCC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCC8 were set to Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ABCC6 Zornitza Stark gene: ABCC6 was added
gene: ABCC6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCC6 were set to Arterial calcification, generalized, of infancy, 2, 614473 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ABCB7 Zornitza Stark gene: ABCB7 was added
gene: ABCB7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ABCB7 were set to Anemia, sideroblastic, with ataxia, 301310 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ABCB4 Zornitza Stark gene: ABCB4 was added
gene: ABCB4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABCB4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCB4 were set to Cholestasis, progressive familial intrahepatic 3, 602347 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ABCB11 Zornitza Stark gene: ABCB11 was added
gene: ABCB11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABCB11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCB11 were set to Cholestasis, progressive familial intrahepatic 2, 601847 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ABCA4 Zornitza Stark gene: ABCA4 was added
gene: ABCA4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABCA4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA4 were set to Cone-rod dystrophy 3, 604116 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ABCA3 Zornitza Stark gene: ABCA3 was added
gene: ABCA3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABCA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA3 were set to Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ABCA12 Zornitza Stark gene: ABCA12 was added
gene: ABCA12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABCA12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA12 were set to Ichthyosis, congenital, autosomal recessive 4A, 601277 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ABAT Zornitza Stark gene: ABAT was added
gene: ABAT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABAT were set to GABA-transaminase deficiency, 613163 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AARS2 Zornitza Stark gene: AARS2 was added
gene: AARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AARS2 were set to Combined oxidative phosphorylation deficiency 8, 614096 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AAAS Zornitza Stark gene: AAAS was added
gene: AAAS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AAAS were set to Achalasia-addisonianism-alacrimia syndrome, 231550 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 Zornitza Stark Added panel Mackenzie's Mission_Reproductive Carrier Screening
Hereditary Spastic Paraplegia v0.73 SLC19A3 Bryony Thompson reviewed gene: SLC19A3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) MIM#607483; Mode of inheritance: None
Hereditary Spastic Paraplegia v0.73 IFRD1 Bryony Thompson reviewed gene: IFRD1: Rating: RED; Mode of pathogenicity: None; Publications: 29362493; Phenotypes: Hereditary spastic paraplegia, peripheral neuropathy, ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia v0.73 IFIH1 Bryony Thompson reviewed gene: IFIH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25243380, 31427910, 24686847, 24995871; Phenotypes: Aicardi-Goutieres syndrome 7 MIM#615846; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia v0.73 IBA57 Bryony Thompson Marked gene: IBA57 as ready
Hereditary Spastic Paraplegia v0.73 IBA57 Bryony Thompson Gene: iba57 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.73 IBA57 Bryony Thompson Classified gene: IBA57 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.73 IBA57 Bryony Thompson Gene: iba57 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.72 IBA57 Bryony Thompson gene: IBA57 was added
gene: IBA57 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IBA57 were set to 25609768; 30258207
Phenotypes for gene: IBA57 were set to Spastic paraplegia 74, autosomal recessive MIM#616451
Review for gene: IBA57 was set to GREEN
Added comment: Three families with spastic paraparesis as a feature of the condition.
Sources: Expert list
Hereditary Spastic Paraplegia v0.71 HARS2 Bryony Thompson reviewed gene: HARS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Perrault syndrome 2 MIM#614926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.71 HACE1 Bryony Thompson reviewed gene: HACE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26424145, 26437029; Phenotypes: Spastic paraplegia and psychomotor retardation with or without seizures MIM#616756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.71 GCH1 Bryony Thompson Marked gene: GCH1 as ready
Hereditary Spastic Paraplegia v0.71 GCH1 Bryony Thompson Gene: gch1 has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia v0.71 GCH1 Bryony Thompson Mode of inheritance for gene: GCH1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia v0.70 GCH1 Bryony Thompson Classified gene: GCH1 as Amber List (moderate evidence)
Hereditary Spastic Paraplegia v0.70 GCH1 Bryony Thompson Gene: gch1 has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia v0.69 GAD1 Bryony Thompson Marked gene: GAD1 as ready
Hereditary Spastic Paraplegia v0.69 GAD1 Bryony Thompson Gene: gad1 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia v0.69 GAD1 Bryony Thompson Classified gene: GAD1 as Red List (low evidence)
Hereditary Spastic Paraplegia v0.69 GAD1 Bryony Thompson Gene: gad1 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia v0.68 FOXG1 Bryony Thompson Marked gene: FOXG1 as ready
Hereditary Spastic Paraplegia v0.68 FOXG1 Bryony Thompson Gene: foxg1 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia v0.68 FOXG1 Bryony Thompson Classified gene: FOXG1 as Red List (low evidence)
Hereditary Spastic Paraplegia v0.68 FOXG1 Bryony Thompson Gene: foxg1 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia v0.67 FOXG1 Bryony Thompson reviewed gene: FOXG1: Rating: RED; Mode of pathogenicity: None; Publications: 19578037; Phenotypes: Rett syndrome, congenital variant MIM#613454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia v0.67 FARS2 Bryony Thompson reviewed gene: FARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26553276, 25851414, 29126765; Phenotypes: Spastic paraplegia 77, autosomal recessive MIM#617046; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.67 EXOSC3 Bryony Thompson reviewed gene: EXOSC3: Rating: AMBER; Mode of pathogenicity: None; Publications: 25149867, 23975261; Phenotypes: Complicated hereditary spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.67 RNF170 Bryony Thompson Marked gene: RNF170 as ready
Hereditary Spastic Paraplegia v0.67 RNF170 Bryony Thompson Gene: rnf170 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.67 RNF170 Bryony Thompson Classified gene: RNF170 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.67 RNF170 Bryony Thompson Gene: rnf170 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.66 RNF170 Bryony Thompson gene: RNF170 was added
gene: RNF170 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature
Mode of inheritance for gene: RNF170 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNF170 were set to 31636353
Phenotypes for gene: RNF170 were set to Hereditary spastic paraplegia
Review for gene: RNF170 was set to GREEN
Added comment: Four families reported with a complicated HSP phenotype.
Sources: Literature
Hereditary Spastic Paraplegia v0.65 ERLIN1 Bryony Thompson Marked gene: ERLIN1 as ready
Hereditary Spastic Paraplegia v0.65 ERLIN1 Bryony Thompson Gene: erlin1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.65 ERLIN1 Bryony Thompson reviewed gene: ERLIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: Spastic paraplegia 62 MIM#615681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.65 ENTPD1 Bryony Thompson reviewed gene: ENTPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 30652007; Phenotypes: Spastic paraplegia 64, autosomal recessive MIM#615683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2351 CPT1C Bryony Thompson Marked gene: CPT1C as ready
Mendeliome v0.2351 CPT1C Bryony Thompson Gene: cpt1c has been classified as Green List (High Evidence).
Mendeliome v0.2351 CPT1C Bryony Thompson Classified gene: CPT1C as Green List (high evidence)
Mendeliome v0.2351 CPT1C Bryony Thompson Gene: cpt1c has been classified as Green List (High Evidence).
Mendeliome v0.2350 CPT1C Bryony Thompson gene: CPT1C was added
gene: CPT1C was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: CPT1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CPT1C were set to 25751282; 23973755
Phenotypes for gene: CPT1C were set to Spastic paraplegia 73, autosomal dominant MIM#616282
Review for gene: CPT1C was set to GREEN
Added comment: Two unrelated families dominant HSP and a supportive mouse model.
Sources: Expert list
Hereditary Spastic Paraplegia v0.65 CLPP Bryony Thompson reviewed gene: CLPP: Rating: RED; Mode of pathogenicity: None; Publications: 22037954; Phenotypes: Perrault syndrome 3 MIM#614129; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.64 MARS2 Bryony Thompson Marked gene: MARS2 as ready
Hereditary Spastic Paraplegia v0.64 MARS2 Bryony Thompson Gene: mars2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.64 MARS2 Bryony Thompson Classified gene: MARS2 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.64 MARS2 Bryony Thompson Added comment: Comment on list classification: CNVs (duplications) are the only reported cause of this condition, which may not be detected using WES.
Hereditary Spastic Paraplegia v0.64 MARS2 Bryony Thompson Gene: mars2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.63 MARS2 Bryony Thompson gene: MARS2 was added
gene: MARS2 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
SV/CNV tags were added to gene: MARS2.
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: Large duplications identified in 17 French-Canadian families. Spasticity can be present at birth and precede ataxia.
Sources: Expert list
Mendeliome v0.2349 ATP2B4 Bryony Thompson Marked gene: ATP2B4 as ready
Mendeliome v0.2349 ATP2B4 Bryony Thompson Gene: atp2b4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2349 ATP2B4 Bryony Thompson Classified gene: ATP2B4 as Amber List (moderate evidence)
Mendeliome v0.2349 ATP2B4 Bryony Thompson Gene: atp2b4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2348 ATP2B4 Bryony Thompson gene: ATP2B4 was added
gene: ATP2B4 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ATP2B4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP2B4 were set to 25119969; 25798335; 29691679
Phenotypes for gene: ATP2B4 were set to Hereditary spastic paraplegia
Review for gene: ATP2B4 was set to AMBER
Added comment: One Chinese family segregating a missense variant with HSP and one HSP case with a assumed de novo nonsense variant. Supporting in vitro functional assays for the missense variant.
Sources: Expert list
Hereditary Spastic Paraplegia v0.62 ATP1A1 Bryony Thompson Deleted their review
Hereditary Spastic Paraplegia v0.62 ATP1A1 Bryony Thompson gene: ATP1A1 was added
gene: ATP1A1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature
Mode of inheritance for gene: ATP1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP1A1 were set to 31705535
Phenotypes for gene: ATP1A1 were set to Hereditary spastic paraplegia
Review for gene: ATP1A1 was set to RED
Added comment: Sources: Literature
Hereditary Spastic Paraplegia v0.61 ARL6IP1 Bryony Thompson reviewed gene: ARL6IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 31272422, 30980493, 28471035; Phenotypes: Spastic paraplegia 61, autosomal recessive 615685; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.61 ARG1 Bryony Thompson reviewed gene: ARG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29726057; Phenotypes: Argininemia MIM#207800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.61 AMPD2 Bryony Thompson Classified gene: AMPD2 as Red List (low evidence)
Hereditary Spastic Paraplegia v0.61 AMPD2 Bryony Thompson Gene: ampd2 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia v0.60 AMPD2 Bryony Thompson reviewed gene: AMPD2: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: Spastic paraplegia 63 MIM#615686; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.60 ALDH3A2 Bryony Thompson Marked gene: ALDH3A2 as ready
Hereditary Spastic Paraplegia v0.60 ALDH3A2 Bryony Thompson Gene: aldh3a2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.60 ALDH3A2 Bryony Thompson reviewed gene: ALDH3A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 8528251, 29704247; Phenotypes: Sjogren-Larsson syndrome MIM#270200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.436 GMPR Bryony Thompson Classified gene: GMPR as Red List (low evidence)
Mitochondrial disease v0.436 GMPR Bryony Thompson Added comment: Comment on list classification: Insufficient evidence currently.
Mitochondrial disease v0.436 GMPR Bryony Thompson Gene: gmpr has been classified as Red List (Low Evidence).
Mitochondrial disease v0.435 GMPR Bryony Thompson gene: GMPR was added
gene: GMPR was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: GMPR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GMPR were set to 31600844
Phenotypes for gene: GMPR were set to progressive external ophthalmoplegia
Review for gene: GMPR was set to AMBER
Added comment: A heterozygous missense was identified in a case with late-onset adPEO and multiple mtDNA deletions in the cases skeletal muscle. GMPR deficiency was confirmed, but marked defects of mtDNA replication or nucleotide homeostasis was not demonstrated in patient cells. No other functional assays conducted.
Sources: Literature
Hydrops fetalis v0.112 PRF1 Tegan French gene: PRF1 was added
gene: PRF1 was added to Hydrops fetalis. Sources: Other
Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRF1 were set to PMID: 19595804; 26199792; 30070073
Phenotypes for gene: PRF1 were set to Aplastic anemia; Hemophagocytic lymphohistiocytosis, familial, 2 AR; Lymphoma, non-Hodgkin
Penetrance for gene: PRF1 were set to Complete
Review for gene: PRF1 was set to GREEN
Added comment: Heeg et al report 12 patients presenting with FHLH2 in utero or in first 10 days of life from registry and publication data (these 12 genetically confirmed)
PMID: 19595804

Vermulen et al report two siblings with homozygous PRF1 variants, first sib died in utero with hydrops and second sib presented in neonatal period
PMID: 26199792

Iwatani et al report newborn infant with comp het PRF1 variants, and in utero ascites
PMID: 30070073
Sources: Other
Cataract v0.133 LSS Bryony Thompson Classified gene: LSS as Green List (high evidence)
Cataract v0.133 LSS Bryony Thompson Gene: lss has been classified as Green List (High Evidence).
Cataract v0.132 LSS Bryony Thompson changed review comment from: Three families reported with congenital cataracts with biallelic variants in LSS.
Sources: Literature; to: Three families reported with congenital cataracts with biallelic variants in LSS. Mouse model with cataracts.
Sources: Literature
Ectodermal Dysplasia v0.23 LSS Bryony Thompson Marked gene: LSS as ready
Ectodermal Dysplasia v0.23 LSS Bryony Thompson Gene: lss has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.23 LSS Bryony Thompson Classified gene: LSS as Green List (high evidence)
Ectodermal Dysplasia v0.23 LSS Bryony Thompson Gene: lss has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.22 LSS Bryony Thompson gene: LSS was added
gene: LSS was added to Ectodermal Dysplasia. Sources: Literature
Mode of inheritance for gene: LSS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSS were set to 30723320; 32101538
Phenotypes for gene: LSS were set to Alopecia-mental retardation syndrome 4 MIM#618840; Hypotrichosis 14 MIM#618275
Review for gene: LSS was set to GREEN
Added comment: Seven families with biallelic variants with a neuroectordermal syndrome, including alopecia. Mouse model has hypotrichosis cataracts.
Sources: Literature
Cataract v0.132 LSS Bryony Thompson gene: LSS was added
gene: LSS was added to Cataract. Sources: Literature
Mode of inheritance for gene: LSS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSS were set to 26200341; 29016354
Phenotypes for gene: LSS were set to Cataract 44 MIM#616509
Review for gene: LSS was set to GREEN
Added comment: Three families reported with congenital cataracts with biallelic variants in LSS.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2526 CACNB4 Bryony Thompson Classified gene: CACNB4 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2526 CACNB4 Bryony Thompson Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2525 CACNB4 Bryony Thompson gene: CACNB4 was added
gene: CACNB4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CACNB4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CACNB4 were set to 32176688
Phenotypes for gene: CACNB4 were set to intellectual disability; psychomotor retardation; blindness; epilepsy; movement disorder; cerebellar atrophy
Review for gene: CACNB4 was set to AMBER
Added comment: A homozygous missense variant (Leu126Pro) was identified in two siblings with intellectual disability, psychomotor retardation, blindness, epilepsy, movement disorder and cerebellar atrophy. In vitro functional assays of the variant identify three potential pathomechanisms: impairs the formation of synaptic P/Q-type calcium channel complexes; prevents activity-dependent nuclear targeting and thus β4-dependent nuclear functions; disturbs complex formation between β4b and the TRAF2 and NCK interacting kinase TNIK.
Sources: Literature
Mitochondrial disease v0.434 CHCHD2 Zornitza Stark Marked gene: CHCHD2 as ready
Mitochondrial disease v0.434 CHCHD2 Zornitza Stark Gene: chchd2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.434 IDH3A Zornitza Stark Marked gene: IDH3A as ready
Mitochondrial disease v0.434 IDH3A Zornitza Stark Gene: idh3a has been classified as Green List (High Evidence).
Mitochondrial disease v0.434 PITRM1 Zornitza Stark Marked gene: PITRM1 as ready
Mitochondrial disease v0.434 PITRM1 Zornitza Stark Gene: pitrm1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.434 SLC22A5 Zornitza Stark Marked gene: SLC22A5 as ready
Mitochondrial disease v0.434 SLC22A5 Zornitza Stark Gene: slc22a5 has been classified as Green List (High Evidence).
Mitochondrial disease v0.434 NSUN3 Zornitza Stark Marked gene: NSUN3 as ready
Mitochondrial disease v0.434 NSUN3 Zornitza Stark Gene: nsun3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.434 OXA1L Zornitza Stark Marked gene: OXA1L as ready
Mitochondrial disease v0.434 OXA1L Zornitza Stark Gene: oxa1l has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.434 PTCD3 Zornitza Stark Marked gene: PTCD3 as ready
Mitochondrial disease v0.434 PTCD3 Zornitza Stark Gene: ptcd3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.434 SLC25A10 Zornitza Stark Marked gene: SLC25A10 as ready
Mitochondrial disease v0.434 SLC25A10 Zornitza Stark Gene: slc25a10 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.434 TIMMDC1 Zornitza Stark Marked gene: TIMMDC1 as ready
Mitochondrial disease v0.434 TIMMDC1 Zornitza Stark Gene: timmdc1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.434 TIMM22 Zornitza Stark Marked gene: TIMM22 as ready
Mitochondrial disease v0.434 TIMM22 Zornitza Stark Gene: timm22 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.434 TMEM65 Zornitza Stark Marked gene: TMEM65 as ready
Mitochondrial disease v0.434 TMEM65 Zornitza Stark Gene: tmem65 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.434 USMG5 Zornitza Stark Marked gene: USMG5 as ready
Mitochondrial disease v0.434 USMG5 Zornitza Stark Gene: usmg5 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.434 CISD2 Zornitza Stark Marked gene: CISD2 as ready
Mitochondrial disease v0.434 CISD2 Zornitza Stark Gene: cisd2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.434 CISD2 Zornitza Stark Classified gene: CISD2 as Green List (high evidence)
Mitochondrial disease v0.434 CISD2 Zornitza Stark Gene: cisd2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.433 COX5A Zornitza Stark Marked gene: COX5A as ready
Mitochondrial disease v0.433 COX5A Zornitza Stark Gene: cox5a has been classified as Red List (Low Evidence).
Mitochondrial disease v0.433 KIF5A Zornitza Stark Marked gene: KIF5A as ready
Mitochondrial disease v0.433 KIF5A Zornitza Stark Gene: kif5a has been classified as Red List (Low Evidence).
Mitochondrial disease v0.433 KIF5A Zornitza Stark Classified gene: KIF5A as Red List (low evidence)
Mitochondrial disease v0.433 KIF5A Zornitza Stark Gene: kif5a has been classified as Red List (Low Evidence).
Mitochondrial disease v0.432 KIF5A Zornitza Stark Classified gene: KIF5A as Amber List (moderate evidence)
Mitochondrial disease v0.432 KIF5A Zornitza Stark Gene: kif5a has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.431 PET117 Zornitza Stark Marked gene: PET117 as ready
Mitochondrial disease v0.431 PET117 Zornitza Stark Gene: pet117 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.431 PTCD1 Zornitza Stark Marked gene: PTCD1 as ready
Mitochondrial disease v0.431 PTCD1 Zornitza Stark Gene: ptcd1 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.431 COX4I1 Zornitza Stark Marked gene: COX4I1 as ready
Mitochondrial disease v0.431 COX4I1 Zornitza Stark Gene: cox4i1 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.431 COX4I1 Zornitza Stark Publications for gene: COX4I1 were set to 28766551
Mitochondrial disease v0.430 COX4I1 Zornitza Stark changed review comment from: Two more variants reported in PMID: 22592081: one is non-coding and the other rare missense, appear to have been identified in separate individuals.; to: Two more variants reported in PMID: 22592081: one is non-coding and the other rare missense, appear to have been identified in separate individuals, i.e. heterozygous in each individual.
Mitochondrial disease v0.430 MT-TS2 Zornitza Stark Tag mtDNA tag was added to gene: MT-TS2.
Mitochondrial disease v0.430 MT-TK Zornitza Stark Tag mtDNA tag was added to gene: MT-TK.
Mitochondrial disease v0.430 MT-TE Zornitza Stark Tag mtDNA tag was added to gene: MT-TE.
Mitochondrial disease v0.430 MT-TC Zornitza Stark Tag mtDNA tag was added to gene: MT-TC.
Mitochondrial disease v0.430 MT-RNR1 Zornitza Stark Tag mtDNA tag was added to gene: MT-RNR1.
Mitochondrial disease v0.430 MT-ND6 Zornitza Stark Tag mtDNA tag was added to gene: MT-ND6.
Mitochondrial disease v0.430 MT-ND4L Zornitza Stark Tag mtDNA tag was added to gene: MT-ND4L.
Mitochondrial disease v0.430 MT-ND2 Zornitza Stark Tag mtDNA tag was added to gene: MT-ND2.
Mitochondrial disease v0.430 MT-ATP8 Zornitza Stark Tag mtDNA tag was added to gene: MT-ATP8.
Mitochondrial disease v0.430 MT-TY Zornitza Stark Marked gene: MT-TY as ready
Mitochondrial disease v0.430 MT-TY Zornitza Stark Gene: mt-ty has been classified as Green List (High Evidence).
Mitochondrial disease v0.430 MT-TY Zornitza Stark Tag somatic tag was added to gene: MT-TY.
Tag mtDNA tag was added to gene: MT-TY.
Mitochondrial disease v0.430 MT-TY Zornitza Stark Classified gene: MT-TY as Green List (high evidence)
Mitochondrial disease v0.430 MT-TY Zornitza Stark Gene: mt-ty has been classified as Green List (High Evidence).
Mitochondrial disease v0.429 MT-TY Zornitza Stark gene: MT-TY was added
gene: MT-TY was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TY was set to MITOCHONDRIAL
Phenotypes for gene: MT-TY were set to Progressive external ophthalmoplegia; Cardiomyopathy; Myopathy
Review for gene: MT-TY was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.428 MT-TW Zornitza Stark Marked gene: MT-TW as ready
Mitochondrial disease v0.428 MT-TW Zornitza Stark Gene: mt-tw has been classified as Green List (High Evidence).
Mitochondrial disease v0.428 MT-TW Zornitza Stark Tag mtDNA tag was added to gene: MT-TW.
Mitochondrial disease v0.428 MT-TW Zornitza Stark Classified gene: MT-TW as Green List (high evidence)
Mitochondrial disease v0.428 MT-TW Zornitza Stark Gene: mt-tw has been classified as Green List (High Evidence).
Mitochondrial disease v0.427 MT-TW Zornitza Stark gene: MT-TW was added
gene: MT-TW was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TW was set to MITOCHONDRIAL
Phenotypes for gene: MT-TW were set to Encephalomyopathy
Review for gene: MT-TW was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.426 MT-TV Zornitza Stark Tag mtDNA tag was added to gene: MT-TV.
Mitochondrial disease v0.426 MT-TV Zornitza Stark Marked gene: MT-TV as ready
Mitochondrial disease v0.426 MT-TV Zornitza Stark Gene: mt-tv has been classified as Green List (High Evidence).
Mitochondrial disease v0.426 MT-TV Zornitza Stark Classified gene: MT-TV as Green List (high evidence)
Mitochondrial disease v0.426 MT-TV Zornitza Stark Gene: mt-tv has been classified as Green List (High Evidence).
Mitochondrial disease v0.425 MT-TV Zornitza Stark gene: MT-TV was added
gene: MT-TV was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TV was set to MITOCHONDRIAL
Phenotypes for gene: MT-TV were set to Ataxia; Seizures; Deafness
Review for gene: MT-TV was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.424 MT-TT Zornitza Stark Marked gene: MT-TT as ready
Mitochondrial disease v0.424 MT-TT Zornitza Stark Gene: mt-tt has been classified as Red List (Low Evidence).
Mitochondrial disease v0.424 MT-TT Zornitza Stark Tag mtDNA tag was added to gene: MT-TT.
Mitochondrial disease v0.424 MT-TT Zornitza Stark gene: MT-TT was added
gene: MT-TT was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TT was set to MITOCHONDRIAL
Review for gene: MT-TT was set to RED
Added comment: Sources: Expert list
Mitochondrial disease v0.423 MT-TS2 Zornitza Stark Marked gene: MT-TS2 as ready
Mitochondrial disease v0.423 MT-TS2 Zornitza Stark Gene: mt-ts2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.423 MT-TS2 Zornitza Stark Classified gene: MT-TS2 as Green List (high evidence)
Mitochondrial disease v0.423 MT-TS2 Zornitza Stark Gene: mt-ts2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.422 MT-TS2 Zornitza Stark gene: MT-TS2 was added
gene: MT-TS2 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TS2 was set to MITOCHONDRIAL
Phenotypes for gene: MT-TS2 were set to MERRF; MELAS; Cerebellar ataxia
Review for gene: MT-TS2 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.421 MT-TS1 Zornitza Stark Marked gene: MT-TS1 as ready
Mitochondrial disease v0.421 MT-TS1 Zornitza Stark Gene: mt-ts1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.421 MT-TS1 Zornitza Stark Tag mtDNA tag was added to gene: MT-TS1.
Mitochondrial disease v0.421 MT-TS1 Zornitza Stark Classified gene: MT-TS1 as Green List (high evidence)
Mitochondrial disease v0.421 MT-TS1 Zornitza Stark Gene: mt-ts1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.420 MT-TS1 Zornitza Stark gene: MT-TS1 was added
gene: MT-TS1 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TS1 was set to MITOCHONDRIAL
Phenotypes for gene: MT-TS1 were set to MERRF; MELAS; Deafness
Review for gene: MT-TS1 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.419 MT-TR Zornitza Stark Marked gene: MT-TR as ready
Mitochondrial disease v0.419 MT-TR Zornitza Stark Gene: mt-tr has been classified as Green List (High Evidence).
Mitochondrial disease v0.419 MT-TR Zornitza Stark Tag mtDNA tag was added to gene: MT-TR.
Mitochondrial disease v0.419 MT-TR Zornitza Stark Classified gene: MT-TR as Green List (high evidence)
Mitochondrial disease v0.419 MT-TR Zornitza Stark Gene: mt-tr has been classified as Green List (High Evidence).
Mitochondrial disease v0.418 MT-TR Zornitza Stark gene: MT-TR was added
gene: MT-TR was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TR was set to MITOCHONDRIAL
Phenotypes for gene: MT-TR were set to Encephalomyopathy
Review for gene: MT-TR was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.417 MT-TQ Zornitza Stark Marked gene: MT-TQ as ready
Mitochondrial disease v0.417 MT-TQ Zornitza Stark Gene: mt-tq has been classified as Green List (High Evidence).
Mitochondrial disease v0.417 MT-TQ Zornitza Stark Tag mtDNA tag was added to gene: MT-TQ.
Mitochondrial disease v0.417 MT-TQ Zornitza Stark Classified gene: MT-TQ as Green List (high evidence)
Mitochondrial disease v0.417 MT-TQ Zornitza Stark Gene: mt-tq has been classified as Green List (High Evidence).
Mitochondrial disease v0.416 MT-TQ Zornitza Stark gene: MT-TQ was added
gene: MT-TQ was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TQ was set to MITOCHONDRIAL
Phenotypes for gene: MT-TQ were set to MELAS; deafness; mitochondrial myopathy
Review for gene: MT-TQ was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.415 MT-TP Zornitza Stark Marked gene: MT-TP as ready
Mitochondrial disease v0.415 MT-TP Zornitza Stark Gene: mt-tp has been classified as Green List (High Evidence).
Mitochondrial disease v0.415 MT-TP Zornitza Stark Tag mtDNA tag was added to gene: MT-TP.
Mitochondrial disease v0.415 MT-TP Zornitza Stark Classified gene: MT-TP as Green List (high evidence)
Mitochondrial disease v0.415 MT-TP Zornitza Stark Gene: mt-tp has been classified as Green List (High Evidence).
Mitochondrial disease v0.414 MT-TP Zornitza Stark gene: MT-TP was added
gene: MT-TP was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TP was set to MITOCHONDRIAL
Phenotypes for gene: MT-TP were set to MERRF; myopathy
Review for gene: MT-TP was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.413 MT-TN Zornitza Stark Marked gene: MT-TN as ready
Mitochondrial disease v0.413 MT-TN Zornitza Stark Gene: mt-tn has been classified as Green List (High Evidence).
Mitochondrial disease v0.413 MT-TN Zornitza Stark Classified gene: MT-TN as Green List (high evidence)
Mitochondrial disease v0.413 MT-TN Zornitza Stark Gene: mt-tn has been classified as Green List (High Evidence).
Mitochondrial disease v0.412 MT-TN Zornitza Stark gene: MT-TN was added
gene: MT-TN was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TN was set to MITOCHONDRIAL
Phenotypes for gene: MT-TN were set to Mitochondrial myopathy
Review for gene: MT-TN was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.411 MT-TM Zornitza Stark Marked gene: MT-TM as ready
Mitochondrial disease v0.411 MT-TM Zornitza Stark Gene: mt-tm has been classified as Green List (High Evidence).
Mitochondrial disease v0.411 MT-TM Zornitza Stark Tag mtDNA tag was added to gene: MT-TM.
Mitochondrial disease v0.411 MT-TM Zornitza Stark Classified gene: MT-TM as Green List (high evidence)
Mitochondrial disease v0.411 MT-TM Zornitza Stark Gene: mt-tm has been classified as Green List (High Evidence).
Mitochondrial disease v0.410 MT-TM Zornitza Stark gene: MT-TM was added
gene: MT-TM was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TM was set to MITOCHONDRIAL
Phenotypes for gene: MT-TM were set to Mitochondrial myopathy
Review for gene: MT-TM was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.409 MT-TL2 Zornitza Stark Marked gene: MT-TL2 as ready
Mitochondrial disease v0.409 MT-TL2 Zornitza Stark Gene: mt-tl2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.409 MT-TL2 Zornitza Stark Tag mtDNA tag was added to gene: MT-TL2.
Mitochondrial disease v0.409 MT-TL2 Zornitza Stark Classified gene: MT-TL2 as Green List (high evidence)
Mitochondrial disease v0.409 MT-TL2 Zornitza Stark Gene: mt-tl2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.408 MT-TL2 Zornitza Stark gene: MT-TL2 was added
gene: MT-TL2 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TL2 was set to MITOCHONDRIAL
Phenotypes for gene: MT-TL2 were set to Myopathy; Cardiomyopathy; Encephalomyopathy
Review for gene: MT-TL2 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.407 MT-TL1 Zornitza Stark Marked gene: MT-TL1 as ready
Mitochondrial disease v0.407 MT-TL1 Zornitza Stark Gene: mt-tl1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.407 MT-TL1 Zornitza Stark Tag mtDNA tag was added to gene: MT-TL1.
Mitochondrial disease v0.407 MT-TL1 Zornitza Stark Classified gene: MT-TL1 as Green List (high evidence)
Mitochondrial disease v0.407 MT-TL1 Zornitza Stark Gene: mt-tl1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.406 MT-TL1 Zornitza Stark gene: MT-TL1 was added
gene: MT-TL1 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL
Phenotypes for gene: MT-TL1 were set to MELAS
Review for gene: MT-TL1 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.405 MT-TK Zornitza Stark Marked gene: MT-TK as ready
Mitochondrial disease v0.405 MT-TK Zornitza Stark Gene: mt-tk has been classified as Green List (High Evidence).
Mitochondrial disease v0.405 MT-TK Zornitza Stark Classified gene: MT-TK as Green List (high evidence)
Mitochondrial disease v0.405 MT-TK Zornitza Stark Gene: mt-tk has been classified as Green List (High Evidence).
Mitochondrial disease v0.404 MT-TK Zornitza Stark gene: MT-TK was added
gene: MT-TK was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TK was set to MITOCHONDRIAL
Phenotypes for gene: MT-TK were set to MERRF; Encephalopathy; Deafness; Cardiomyopathy
Review for gene: MT-TK was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.403 MT-TI Zornitza Stark Marked gene: MT-TI as ready
Mitochondrial disease v0.403 MT-TI Zornitza Stark Gene: mt-ti has been classified as Green List (High Evidence).
Mitochondrial disease v0.403 MT-TI Zornitza Stark Tag mtDNA tag was added to gene: MT-TI.
Mitochondrial disease v0.403 MT-TI Zornitza Stark Classified gene: MT-TI as Green List (high evidence)
Mitochondrial disease v0.403 MT-TI Zornitza Stark Gene: mt-ti has been classified as Green List (High Evidence).
Mitochondrial disease v0.402 MT-TI Zornitza Stark gene: MT-TI was added
gene: MT-TI was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TI was set to MITOCHONDRIAL
Phenotypes for gene: MT-TI were set to Mitochondrial myopathy; Encephalopathy
Review for gene: MT-TI was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.401 MT-TH Zornitza Stark Tag mtDNA tag was added to gene: MT-TH.
Mitochondrial disease v0.401 MT-TH Zornitza Stark Marked gene: MT-TH as ready
Mitochondrial disease v0.401 MT-TH Zornitza Stark Gene: mt-th has been classified as Green List (High Evidence).
Mitochondrial disease v0.401 MT-TH Zornitza Stark Classified gene: MT-TH as Green List (high evidence)
Mitochondrial disease v0.401 MT-TH Zornitza Stark Gene: mt-th has been classified as Green List (High Evidence).
Mitochondrial disease v0.400 MT-TH Zornitza Stark gene: MT-TH was added
gene: MT-TH was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TH was set to MITOCHONDRIAL
Phenotypes for gene: MT-TH were set to Dilated cardiomyopathy; Retinopathy; Deafness; MELAS; MERFF
Review for gene: MT-TH was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.399 MT-TG Zornitza Stark Marked gene: MT-TG as ready
Mitochondrial disease v0.399 MT-TG Zornitza Stark Gene: mt-tg has been classified as Green List (High Evidence).
Mitochondrial disease v0.399 MT-TG Zornitza Stark Tag mtDNA tag was added to gene: MT-TG.
Mitochondrial disease v0.399 MT-TG Zornitza Stark Classified gene: MT-TG as Green List (high evidence)
Mitochondrial disease v0.399 MT-TG Zornitza Stark Gene: mt-tg has been classified as Green List (High Evidence).
Mitochondrial disease v0.398 MT-TG Zornitza Stark gene: MT-TG was added
gene: MT-TG was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TG was set to MITOCHONDRIAL
Phenotypes for gene: MT-TG were set to Cardiomyopathy
Review for gene: MT-TG was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.397 MT-TF Zornitza Stark Marked gene: MT-TF as ready
Mitochondrial disease v0.397 MT-TF Zornitza Stark Gene: mt-tf has been classified as Green List (High Evidence).
Mitochondrial disease v0.397 MT-TF Zornitza Stark Tag mtDNA tag was added to gene: MT-TF.
Mitochondrial disease v0.397 MT-TF Zornitza Stark Classified gene: MT-TF as Green List (high evidence)
Mitochondrial disease v0.397 MT-TF Zornitza Stark Gene: mt-tf has been classified as Green List (High Evidence).
Mitochondrial disease v0.396 MT-TF Zornitza Stark gene: MT-TF was added
gene: MT-TF was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TF was set to MITOCHONDRIAL
Phenotypes for gene: MT-TF were set to MELAS; MERFF; Encephalopathy; Myopathy
Review for gene: MT-TF was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.395 MT-TE Zornitza Stark Marked gene: MT-TE as ready
Mitochondrial disease v0.395 MT-TE Zornitza Stark Gene: mt-te has been classified as Green List (High Evidence).
Mitochondrial disease v0.395 MT-TE Zornitza Stark Classified gene: MT-TE as Green List (high evidence)
Mitochondrial disease v0.395 MT-TE Zornitza Stark Gene: mt-te has been classified as Green List (High Evidence).
Mitochondrial disease v0.394 MT-TE Zornitza Stark gene: MT-TE was added
gene: MT-TE was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TE was set to MITOCHONDRIAL
Phenotypes for gene: MT-TE were set to Mitochondrial myopathy; Deafness; Diabetes
Review for gene: MT-TE was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.393 MT-TD Zornitza Stark Marked gene: MT-TD as ready
Mitochondrial disease v0.393 MT-TD Zornitza Stark Gene: mt-td has been classified as Green List (High Evidence).
Mitochondrial disease v0.393 MT-TD Zornitza Stark Tag mtDNA tag was added to gene: MT-TD.
Mitochondrial disease v0.393 MT-TD Zornitza Stark Classified gene: MT-TD as Green List (high evidence)
Mitochondrial disease v0.393 MT-TD Zornitza Stark Gene: mt-td has been classified as Green List (High Evidence).
Mitochondrial disease v0.392 MT-TD Zornitza Stark gene: MT-TD was added
gene: MT-TD was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TD was set to MITOCHONDRIAL
Phenotypes for gene: MT-TD were set to Mitochondrial myopathy
Review for gene: MT-TD was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.391 MT-TC Zornitza Stark Marked gene: MT-TC as ready
Mitochondrial disease v0.391 MT-TC Zornitza Stark Gene: mt-tc has been classified as Green List (High Evidence).
Mitochondrial disease v0.391 MT-TC Zornitza Stark Classified gene: MT-TC as Green List (high evidence)
Mitochondrial disease v0.391 MT-TC Zornitza Stark Gene: mt-tc has been classified as Green List (High Evidence).
Mitochondrial disease v0.390 MT-TC Zornitza Stark gene: MT-TC was added
gene: MT-TC was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TC was set to MITOCHONDRIAL
Phenotypes for gene: MT-TC were set to MELAS; Dystonia
Review for gene: MT-TC was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.389 MT-TA Zornitza Stark Marked gene: MT-TA as ready
Mitochondrial disease v0.389 MT-TA Zornitza Stark Gene: mt-ta has been classified as Green List (High Evidence).
Mitochondrial disease v0.389 MT-TA Zornitza Stark Tag mtDNA tag was added to gene: MT-TA.
Mitochondrial disease v0.389 MT-TA Zornitza Stark Classified gene: MT-TA as Green List (high evidence)
Mitochondrial disease v0.389 MT-TA Zornitza Stark Gene: mt-ta has been classified as Green List (High Evidence).
Mitochondrial disease v0.388 MT-TA Zornitza Stark gene: MT-TA was added
gene: MT-TA was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TA was set to MITOCHONDRIAL
Phenotypes for gene: MT-TA were set to Mitochondrial myopathy
Review for gene: MT-TA was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.387 MT-RNR1 Zornitza Stark Marked gene: MT-RNR1 as ready
Mitochondrial disease v0.387 MT-RNR1 Zornitza Stark Gene: mt-rnr1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.387 MT-RNR1 Zornitza Stark Classified gene: MT-RNR1 as Green List (high evidence)
Mitochondrial disease v0.387 MT-RNR1 Zornitza Stark Gene: mt-rnr1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.386 MT-RNR1 Zornitza Stark gene: MT-RNR1 was added
gene: MT-RNR1 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-RNR1 was set to MITOCHONDRIAL
Phenotypes for gene: MT-RNR1 were set to Deafness; Cardiomyopathy
Review for gene: MT-RNR1 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.385 MT-ND6 Zornitza Stark Marked gene: MT-ND6 as ready
Mitochondrial disease v0.385 MT-ND6 Zornitza Stark Gene: mt-nd6 has been classified as Green List (High Evidence).
Mitochondrial disease v0.385 MT-ND6 Zornitza Stark Classified gene: MT-ND6 as Green List (high evidence)
Mitochondrial disease v0.385 MT-ND6 Zornitza Stark Gene: mt-nd6 has been classified as Green List (High Evidence).
Mitochondrial disease v0.384 MT-ND6 Zornitza Stark gene: MT-ND6 was added
gene: MT-ND6 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND6 were set to Mitochondrial cardiomyopathy complex I deficiency; Leber's optic neuropathy; MELAS; Dystonia; Striatal necrosis, bilateral
Review for gene: MT-ND6 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.383 MT-ND5 Zornitza Stark Tag mtDNA tag was added to gene: MT-ND5.
Mitochondrial disease v0.383 MT-ND5 Zornitza Stark Marked gene: MT-ND5 as ready
Mitochondrial disease v0.383 MT-ND5 Zornitza Stark Gene: mt-nd5 has been classified as Green List (High Evidence).
Mitochondrial disease v0.383 MT-ND5 Zornitza Stark Classified gene: MT-ND5 as Green List (high evidence)
Mitochondrial disease v0.383 MT-ND5 Zornitza Stark Gene: mt-nd5 has been classified as Green List (High Evidence).
Mitochondrial disease v0.382 MT-ND5 Zornitza Stark gene: MT-ND5 was added
gene: MT-ND5 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-ND5 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND5 were set to Mitochondrial complex I deficiency; Leber's optic neuropathy; MERFF
Review for gene: MT-ND5 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.381 MT-ND4L Zornitza Stark Marked gene: MT-ND4L as ready
Mitochondrial disease v0.381 MT-ND4L Zornitza Stark Gene: mt-nd4l has been classified as Green List (High Evidence).
Mitochondrial disease v0.381 MT-ND4L Zornitza Stark Classified gene: MT-ND4L as Green List (high evidence)
Mitochondrial disease v0.381 MT-ND4L Zornitza Stark Gene: mt-nd4l has been classified as Green List (High Evidence).
Mitochondrial disease v0.380 MT-ND4L Zornitza Stark gene: MT-ND4L was added
gene: MT-ND4L was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-ND4L was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND4L were set to Leber's optic atrophy
Review for gene: MT-ND4L was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.379 MT-ND4 Zornitza Stark Tag mtDNA tag was added to gene: MT-ND4.
Mitochondrial disease v0.379 MT-ND4 Zornitza Stark Marked gene: MT-ND4 as ready
Mitochondrial disease v0.379 MT-ND4 Zornitza Stark Gene: mt-nd4 has been classified as Green List (High Evidence).
Mitochondrial disease v0.379 MT-ND4 Zornitza Stark Classified gene: MT-ND4 as Green List (high evidence)
Mitochondrial disease v0.379 MT-ND4 Zornitza Stark Gene: mt-nd4 has been classified as Green List (High Evidence).
Mitochondrial disease v0.378 MT-ND4 Zornitza Stark gene: MT-ND4 was added
gene: MT-ND4 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-ND4 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND4 were set to Mitochondrial complex I deficiency; Leber's optic neuropathy; Dystonia
Review for gene: MT-ND4 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.377 MT-ND3 Zornitza Stark Tag mtDNA tag was added to gene: MT-ND3.
Mitochondrial disease v0.377 MT-ND3 Zornitza Stark Marked gene: MT-ND3 as ready
Mitochondrial disease v0.377 MT-ND3 Zornitza Stark Gene: mt-nd3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.377 MT-ND3 Zornitza Stark Classified gene: MT-ND3 as Green List (high evidence)
Mitochondrial disease v0.377 MT-ND3 Zornitza Stark Gene: mt-nd3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.376 MT-ND3 Zornitza Stark gene: MT-ND3 was added
gene: MT-ND3 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-ND3 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND3 were set to Complex I deficiency
Review for gene: MT-ND3 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.375 MT-ND2 Zornitza Stark Marked gene: MT-ND2 as ready
Mitochondrial disease v0.375 MT-ND2 Zornitza Stark Gene: mt-nd2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.375 MT-ND2 Zornitza Stark Classified gene: MT-ND2 as Green List (high evidence)
Mitochondrial disease v0.375 MT-ND2 Zornitza Stark Gene: mt-nd2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.374 MT-ND2 Zornitza Stark gene: MT-ND2 was added
gene: MT-ND2 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-ND2 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND2 were set to Mitochondrial complex I deficiency; Leber's optic neuropathy
Review for gene: MT-ND2 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.373 MT-ND1 Zornitza Stark Marked gene: MT-ND1 as ready
Mitochondrial disease v0.373 MT-ND1 Zornitza Stark Gene: mt-nd1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.373 MT-ND1 Zornitza Stark Tag mtDNA tag was added to gene: MT-ND1.
Mitochondrial disease v0.373 MT-ND1 Zornitza Stark Classified gene: MT-ND1 as Green List (high evidence)
Mitochondrial disease v0.373 MT-ND1 Zornitza Stark Gene: mt-nd1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.372 MT-ND1 Zornitza Stark gene: MT-ND1 was added
gene: MT-ND1 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-ND1 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND1 were set to Mitochondrial complex I deficiency; Leber's optic neuropathy; Deafness; Dystonia
Review for gene: MT-ND1 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.371 MT-CYB Zornitza Stark Tag mtDNA tag was added to gene: MT-CYB.
Mitochondrial disease v0.371 MT-CYB Zornitza Stark Marked gene: MT-CYB as ready
Mitochondrial disease v0.371 MT-CYB Zornitza Stark Gene: mt-cyb has been classified as Green List (High Evidence).
Mitochondrial disease v0.371 MT-CYB Zornitza Stark Classified gene: MT-CYB as Green List (high evidence)
Mitochondrial disease v0.371 MT-CYB Zornitza Stark Gene: mt-cyb has been classified as Green List (High Evidence).
Mitochondrial disease v0.370 MT-CYB Zornitza Stark gene: MT-CYB was added
gene: MT-CYB was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-CYB was set to MITOCHONDRIAL
Phenotypes for gene: MT-CYB were set to Leber's optic atrophy; Encephalomyopathy; Cardiomyopathy
Review for gene: MT-CYB was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.369 MT-CO2 Zornitza Stark Tag mtDNA tag was added to gene: MT-CO2.
Mitochondrial disease v0.369 MT-CO2 Zornitza Stark Marked gene: MT-CO2 as ready
Mitochondrial disease v0.369 MT-CO2 Zornitza Stark Gene: mt-co2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.369 MT-CO2 Zornitza Stark Classified gene: MT-CO2 as Green List (high evidence)
Mitochondrial disease v0.369 MT-CO2 Zornitza Stark Gene: mt-co2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.368 MT-CO2 Zornitza Stark gene: MT-CO2 was added
gene: MT-CO2 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-CO2 was set to MITOCHONDRIAL
Phenotypes for gene: MT-CO2 were set to Cytochrome c oxidase deficiency
Review for gene: MT-CO2 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.367 MT-CO1 Zornitza Stark Marked gene: MT-CO1 as ready
Mitochondrial disease v0.367 MT-CO1 Zornitza Stark Gene: mt-co1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.367 MT-CO1 Zornitza Stark Tag mtDNA tag was added to gene: MT-CO1.
Mitochondrial disease v0.367 MT-CO1 Zornitza Stark Classified gene: MT-CO1 as Green List (high evidence)
Mitochondrial disease v0.367 MT-CO1 Zornitza Stark Gene: mt-co1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.366 MT-CO1 Zornitza Stark gene: MT-CO1 was added
gene: MT-CO1 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-CO1 was set to MITOCHONDRIAL
Phenotypes for gene: MT-CO1 were set to Leber's optic atrophy; Sideroblastic anaemia; Cytochrome c oxidase deficiency; Myoglobinuria
Review for gene: MT-CO1 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.365 MT-ATP8 Zornitza Stark Marked gene: MT-ATP8 as ready
Mitochondrial disease v0.365 MT-ATP8 Zornitza Stark Gene: mt-atp8 has been classified as Green List (High Evidence).
Mitochondrial disease v0.365 MT-ATP8 Zornitza Stark Classified gene: MT-ATP8 as Green List (high evidence)
Mitochondrial disease v0.365 MT-ATP8 Zornitza Stark Gene: mt-atp8 has been classified as Green List (High Evidence).
Mitochondrial disease v0.364 MT-ATP8 Zornitza Stark gene: MT-ATP8 was added
gene: MT-ATP8 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-ATP8 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ATP8 were set to Mitochondrial cardiomyopathy complex V (ATP synthase) deficiency
Review for gene: MT-ATP8 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.363 MT-ATP6 Zornitza Stark Marked gene: MT-ATP6 as ready
Mitochondrial disease v0.363 MT-ATP6 Zornitza Stark Gene: mt-atp6 has been classified as Green List (High Evidence).
Mitochondrial disease v0.363 MT-ATP6 Zornitza Stark Tag mtDNA tag was added to gene: MT-ATP6.
Mitochondrial disease v0.363 MT-ATP6 Zornitza Stark Classified gene: MT-ATP6 as Green List (high evidence)
Mitochondrial disease v0.363 MT-ATP6 Zornitza Stark Gene: mt-atp6 has been classified as Green List (High Evidence).
Mitochondrial disease v0.362 MT-ATP6 Zornitza Stark gene: MT-ATP6 was added
gene: MT-ATP6 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ATP6 were set to Mitochondrial complex V (ATP synthase) deficiency
Review for gene: MT-ATP6 was set to GREEN
Added comment: Sources: Expert list
Hereditary Spastic Paraplegia v0.60 ACOX1 Zornitza Stark Marked gene: ACOX1 as ready
Hereditary Spastic Paraplegia v0.60 ACOX1 Zornitza Stark Gene: acox1 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia v0.60 ACOX1 Zornitza Stark Publications for gene: ACOX1 were set to
Hereditary Spastic Paraplegia v0.59 ARSI Zornitza Stark Marked gene: ARSI as ready
Hereditary Spastic Paraplegia v0.59 ARSI Zornitza Stark Gene: arsi has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia v0.59 CCT5 Zornitza Stark Marked gene: CCT5 as ready
Hereditary Spastic Paraplegia v0.59 CCT5 Zornitza Stark Gene: cct5 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia v0.59 KLC2 Zornitza Stark Marked gene: KLC2 as ready
Hereditary Spastic Paraplegia v0.59 KLC2 Zornitza Stark Gene: klc2 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia v0.59 ZFYVE26 Zornitza Stark Marked gene: ZFYVE26 as ready
Hereditary Spastic Paraplegia v0.59 ZFYVE26 Zornitza Stark Gene: zfyve26 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.59 ZFYVE26 Zornitza Stark Classified gene: ZFYVE26 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.59 ZFYVE26 Zornitza Stark Gene: zfyve26 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.58 ZFYVE26 Zornitza Stark gene: ZFYVE26 was added
gene: ZFYVE26 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZFYVE26 were set to Spastic paraplegia 15, autosomal recessive, MIM# 270700
Review for gene: ZFYVE26 was set to GREEN
Added comment: Complex form of spastic paraplegia, associated with other neurologic dysfunction, including variable intellectual disability, hearing and visual defects, and thin corpus callosum. Late childhood onset reported.
Sources: Expert list
Hereditary Spastic Paraplegia v0.57 VAMP1 Zornitza Stark Marked gene: VAMP1 as ready
Hereditary Spastic Paraplegia v0.57 VAMP1 Zornitza Stark Gene: vamp1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.57 VAMP1 Zornitza Stark Classified gene: VAMP1 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.57 VAMP1 Zornitza Stark Gene: vamp1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.56 VAMP1 Zornitza Stark gene: VAMP1 was added
gene: VAMP1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: VAMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VAMP1 were set to Spastic ataxia 1, autosomal dominant, MIM# 108600
Review for gene: VAMP1 was set to GREEN
Added comment: Spasticity is a prominent feature of this condition.
Sources: Expert list
Hereditary Spastic Paraplegia v0.55 SPG7 Zornitza Stark Marked gene: SPG7 as ready
Hereditary Spastic Paraplegia v0.55 SPG7 Zornitza Stark Gene: spg7 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.55 SPG7 Zornitza Stark Classified gene: SPG7 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.55 SPG7 Zornitza Stark Gene: spg7 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.54 SPG7 Zornitza Stark gene: SPG7 was added
gene: SPG7 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: SPG7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SPG7 were set to 22571692
Phenotypes for gene: SPG7 were set to Spastic paraplegia 7, autosomal recessive, MIM# 607259
Review for gene: SPG7 was set to GREEN
Added comment: Typical onset is in adulthood, but some individuals with late childhood onset reported. Most affected individuals have had bi-allelic variants; some reports of mono-allelic variants.
Sources: Expert list
Hereditary Spastic Paraplegia v0.53 SPG11 Zornitza Stark Marked gene: SPG11 as ready
Hereditary Spastic Paraplegia v0.53 SPG11 Zornitza Stark Gene: spg11 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.53 SPG11 Zornitza Stark Classified gene: SPG11 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.53 SPG11 Zornitza Stark Gene: spg11 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.52 SPG11 Zornitza Stark gene: SPG11 was added
gene: SPG11 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG11 were set to 18067136
Phenotypes for gene: SPG11 were set to Spastic paraplegia 11, autosomal recessive, MIM# 604360
Review for gene: SPG11 was set to GREEN
Added comment: ID, thin corpus callosum, neuropathy reported in some individuals.
Sources: Expert list
Hereditary Spastic Paraplegia v0.51 SPAST Zornitza Stark Marked gene: SPAST as ready
Hereditary Spastic Paraplegia v0.51 SPAST Zornitza Stark Gene: spast has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.51 SPAST Zornitza Stark Classified gene: SPAST as Green List (high evidence)
Hereditary Spastic Paraplegia v0.51 SPAST Zornitza Stark Gene: spast has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.50 SPAST Zornitza Stark gene: SPAST was added
gene: SPAST was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SPAST were set to Spastic paraplegia 4, autosomal dominant, MIM# 182601
Review for gene: SPAST was set to GREEN
Added comment: Wide variation in age of onset, but onset as early as infancy reported.
Sources: Expert list
Hereditary Spastic Paraplegia v0.49 SLC33A1 Zornitza Stark Marked gene: SLC33A1 as ready
Hereditary Spastic Paraplegia v0.49 SLC33A1 Zornitza Stark Gene: slc33a1 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia v0.49 SLC33A1 Zornitza Stark gene: SLC33A1 was added
gene: SLC33A1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: SLC33A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC33A1 were set to 19061983; 20461110
Phenotypes for gene: SLC33A1 were set to Spastic paraplegia 42, autosomal dominant, MIM# 612539
Review for gene: SLC33A1 was set to RED
Added comment: Single large multi-generational family reported, age of onset varied from 4 to 42 years. Bi-allelic variants in this gene cause a severe neurodegenerative phenotype.
Sources: Expert list
Hereditary Spastic Paraplegia v0.48 SELENOI Zornitza Stark Marked gene: SELENOI as ready
Hereditary Spastic Paraplegia v0.48 SELENOI Zornitza Stark Gene: selenoi has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia v0.48 SELENOI Zornitza Stark Phenotypes for gene: SELENOI were changed from severe complicated hereditary spastic paraplegia, sensorineural-deafness, blindness, and seizures to Spastic paraplegia 81, autosomal recessive 618768; developmental delay; spasticity; periventricular white mater abnormalities; peripheral neuropathy; seizures; bifid uvula in some affected individuals
Hereditary Spastic Paraplegia v0.47 SELENOI Zornitza Stark Classified gene: SELENOI as Amber List (moderate evidence)
Hereditary Spastic Paraplegia v0.47 SELENOI Zornitza Stark Gene: selenoi has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia v0.46 SELENOI Zornitza Stark reviewed gene: SELENOI: Rating: AMBER; Mode of pathogenicity: None; Publications: 28052917, 29500230; Phenotypes: Spastic paraplegia 81, autosomal recessive 618768, developmental delay, spasticity, periventricular white mater abnormalities, peripheral neuropathy, seizures, bifid uvula in some affected individuals; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.46 SACS Zornitza Stark Marked gene: SACS as ready
Hereditary Spastic Paraplegia v0.46 SACS Zornitza Stark Gene: sacs has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.46 SACS Zornitza Stark Classified gene: SACS as Green List (high evidence)
Hereditary Spastic Paraplegia v0.46 SACS Zornitza Stark Gene: sacs has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.45 SACS Zornitza Stark edited their review of gene: SACS: Changed phenotypes: Spastic ataxia, Charlevoix-Saguenay type, MIM# 270550
Hereditary Spastic Paraplegia v0.45 SACS Zornitza Stark gene: SACS was added
gene: SACS was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type, MIM@ 270550
Review for gene: SACS was set to GREEN
Added comment: Complex neurological phenotype but spasticity is prominent.
Sources: Expert list
Hereditary Spastic Paraplegia v0.44 REEP1 Zornitza Stark Marked gene: REEP1 as ready
Hereditary Spastic Paraplegia v0.44 REEP1 Zornitza Stark Gene: reep1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.44 REEP1 Zornitza Stark Classified gene: REEP1 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.44 REEP1 Zornitza Stark Gene: reep1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.43 REEP1 Zornitza Stark gene: REEP1 was added
gene: REEP1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: REEP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: REEP1 were set to 16826527; 19034539
Phenotypes for gene: REEP1 were set to Spastic paraplegia 31, autosomal dominant, MIM# 610250
Review for gene: REEP1 was set to GREEN
Added comment: Gene also causes a neuropathy, and the two manifestations may represent a spectrum of disease. Age of onset highly variable, but onset in late childhood described.
Sources: Expert list
Hereditary Spastic Paraplegia v0.42 PLP1 Zornitza Stark Marked gene: PLP1 as ready
Hereditary Spastic Paraplegia v0.42 PLP1 Zornitza Stark Gene: plp1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.42 PLP1 Zornitza Stark Classified gene: PLP1 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.42 PLP1 Zornitza Stark Gene: plp1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.41 PLP1 Zornitza Stark gene: PLP1 was added
gene: PLP1 was added to Hereditary Spastic Paraplegia - paediatric. 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 15627202; 8012387
Phenotypes for gene: PLP1 were set to Spastic paraplegia 2, X-linked, MIM# 312920
Review for gene: PLP1 was set to GREEN
Added comment: Allelic disorder to Pelizaeus-Merzbacher disease.
Sources: Expert list
Hereditary Spastic Paraplegia v0.40 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Hereditary Spastic Paraplegia v0.39 NIPA1 Zornitza Stark Marked gene: NIPA1 as ready
Hereditary Spastic Paraplegia v0.39 NIPA1 Zornitza Stark Gene: nipa1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.39 NIPA1 Zornitza Stark Classified gene: NIPA1 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.39 NIPA1 Zornitza Stark Gene: nipa1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.38 NIPA1 Zornitza Stark gene: NIPA1 was added
gene: NIPA1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: NIPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NIPA1 were set to 14508710; 15711826
Phenotypes for gene: NIPA1 were set to Spastic paraplegia 6, autosomal dominant, MIM# 600363
Review for gene: NIPA1 was set to GREEN
Added comment: Onset typically in second/third decade, but onset in late childhood also reported.
Sources: Expert list
Hereditary Spastic Paraplegia v0.37 KIF5A Zornitza Stark Marked gene: KIF5A as ready
Hereditary Spastic Paraplegia v0.37 KIF5A Zornitza Stark Gene: kif5a has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.37 KIF5A Zornitza Stark Classified gene: KIF5A as Green List (high evidence)
Hereditary Spastic Paraplegia v0.37 KIF5A Zornitza Stark Gene: kif5a has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.36 KIF5A Zornitza Stark gene: KIF5A was added
gene: KIF5A was added to Hereditary Spastic Paraplegia - paediatric. 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 16489470; 21623771; 15452312; 18853458; 16476820
Phenotypes for gene: KIF5A were set to Spastic paraplegia 10, autosomal dominant, MIM# 604187
Review for gene: KIF5A was set to GREEN
Added comment: Highly variable phenotype: some individuals have onset of a 'pure' spastic paraplegia, with lower limb spasticity, hyperreflexia, extensor plantar responses, and variable involvement of the upper limbs beginning in childhood or young adulthood. Some individuals show distal sensory impairment, which can be part of the 'pure' phenotype. However, some individuals also show an axonal sensorimotor peripheral neuropathy with distal sensory impairment and distal muscle atrophy reminiscent of CMT. Rarely, individuals with KIF5A mutations may have additional neurologic features, including parkinsonism or cognitive decline, consistent with a 'complicated' phenotype. Spastic paraplegia and peripheral neuropathy in isolation likely represent extreme ends of the phenotypic spectrum of KIF5A mutations.
Sources: Expert list
Hereditary Spastic Paraplegia v0.35 KIF1A Zornitza Stark Marked gene: KIF1A as ready
Hereditary Spastic Paraplegia v0.35 KIF1A Zornitza Stark Gene: kif1a has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.35 KIF1A Zornitza Stark Classified gene: KIF1A as Green List (high evidence)
Hereditary Spastic Paraplegia v0.35 KIF1A Zornitza Stark Gene: kif1a has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.34 KIF1A Zornitza Stark gene: KIF1A was added
gene: KIF1A was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: KIF1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KIF1A were set to 26410750; 21487076; 22258533; 32096284; 31488895; 29159194; 25585697
Phenotypes for gene: KIF1A were set to Spastic paraplegia 30, MIM# 610357
Review for gene: KIF1A was set to GREEN
Added comment: Spastic paraplegia-30 (SPG30) is a neurologic disorder characterized by onset of slowly progressive spastic paraplegia in the first or second decades of life. Affected individuals have unsteady spastic gait and hyperreflexia of the lower limbs. Some patients have a 'pure' form of the disorder, limited to spastic paraplegia, whereas others may have a 'complicated' form that includes cognitive dysfunction, learning disabilities, or behavioral abnormalities, peripheral sensorimotor neuropathy, urinary sphincter problems, and/or cerebellar atrophy with thin corpus callosum on brain imaging. The phenotypic features represent a spectrum of abnormalities of the central, peripheral, and autonomic nervous system.
Mono-allelic and bi-allelic variants can both cause HSP, multiple families reported with both.
Sources: Expert list
Hereditary Spastic Paraplegia v0.33 HSPD1 Zornitza Stark Marked gene: HSPD1 as ready
Hereditary Spastic Paraplegia v0.33 HSPD1 Zornitza Stark Gene: hspd1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.33 HSPD1 Zornitza Stark Classified gene: HSPD1 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.33 HSPD1 Zornitza Stark Gene: hspd1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.32 HSPD1 Zornitza Stark gene: HSPD1 was added
gene: HSPD1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: HSPD1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: HSPD1 were set to Leukodystrophy, hypomyelinating, 4, MIM# 612233; Spastic paraplegia 13, autosomal dominant, MIM# 605280
Review for gene: HSPD1 was set to GREEN
Added comment: Bi-allelic variants cause a paediatric-onset leukodystrophy, with spasticity as a feature. Mono-allelic variants have been associated with adult-onset HSP.
Sources: Expert list
Hereditary Spastic Paraplegia v0.31 GJC2 Zornitza Stark Marked gene: GJC2 as ready
Hereditary Spastic Paraplegia v0.31 GJC2 Zornitza Stark Gene: gjc2 has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia v0.31 GJC2 Zornitza Stark Classified gene: GJC2 as Amber List (moderate evidence)
Hereditary Spastic Paraplegia v0.31 GJC2 Zornitza Stark Gene: gjc2 has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia v0.30 GJC2 Zornitza Stark gene: GJC2 was added
gene: GJC2 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GJC2 were set to 19056803; 31431325; 25059390
Phenotypes for gene: GJC2 were set to Spastic paraplegia 44, autosomal recessive, MIM# 613206
Review for gene: GJC2 was set to AMBER
Added comment: Bi-allelic variants in GJC2 are associated with severe infantile-onset hypomyelinating leukodystrophy. One family reported with a milder phenotype, where spasticity was prominent. Onset of symptoms was in late childhood, with more marked progression in the third decade. Another family reported with an ataxia-predominant phenotype, and another with subclinical leukodystrophy. Hence the link between this gene and isolated HSP is not fully established at this stage.
Sources: Expert list
Hereditary Spastic Paraplegia v0.29 GBA2 Zornitza Stark Marked gene: GBA2 as ready
Hereditary Spastic Paraplegia v0.29 GBA2 Zornitza Stark Gene: gba2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.29 GBA2 Zornitza Stark Classified gene: GBA2 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.29 GBA2 Zornitza Stark Gene: gba2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.28 GBA2 Zornitza Stark gene: GBA2 was added
gene: GBA2 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBA2 were set to 23332916; 23332917
Phenotypes for gene: GBA2 were set to Spastic paraplegia 46, autosomal recessive, MIM# 614409
Review for gene: GBA2 was set to GREEN
Added comment: A neurodegenerative disorder characterized by onset in childhood of slowly progressive spastic paraplegia and cerebellar signs. Some patients have cognitive impairment, cataracts, and cerebral, cerebellar, and corpus callosum atrophy on brain imaging.
Sources: Expert list
Hereditary Spastic Paraplegia v0.27 FA2H Zornitza Stark Marked gene: FA2H as ready
Hereditary Spastic Paraplegia v0.27 FA2H Zornitza Stark Gene: fa2h has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.27 FA2H Zornitza Stark Classified gene: FA2H as Green List (high evidence)
Hereditary Spastic Paraplegia v0.27 FA2H Zornitza Stark Gene: fa2h has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.26 FA2H Zornitza Stark gene: FA2H was added
gene: FA2H was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FA2H were set to 20104589; 23745665; 19068277; 20853438; 22146942
Phenotypes for gene: FA2H were set to Spastic paraplegia 35, autosomal recessive, MIM# 612319
Review for gene: FA2H was set to GREEN
Added comment: Complex form of HSP characterized by childhood onset of gait difficulties due to progressive spastic paraparesis, dysarthria, and mild cognitive decline associated with leukodystrophy on brain imaging. Other variable neurologic features, such as dystonia, optic atrophy, and seizures may also occur. In addition, some indviduals have radiographic evidence of neurodegeneration with brain iron accumulation (NBIA).
Sources: Expert list
Early-onset Parkinson disease v0.30 HTT Bryony Thompson Classified gene: HTT as Green List (high evidence)
Early-onset Parkinson disease v0.30 HTT Bryony Thompson Gene: htt has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.25 ERLIN2 Zornitza Stark Marked gene: ERLIN2 as ready
Hereditary Spastic Paraplegia v0.25 ERLIN2 Zornitza Stark Gene: erlin2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.25 ERLIN2 Zornitza Stark Phenotypes for gene: ERLIN2 were changed from Spastic paraplegia 18, autosomal recessive, MIM# 611225 to Spastic paraplegia 18, autosomal recessive, MIM# 611225; Spastic paraplegia, dominant
Hereditary Spastic Paraplegia v0.24 ERLIN2 Zornitza Stark Classified gene: ERLIN2 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.24 ERLIN2 Zornitza Stark Gene: erlin2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.23 ERLIN2 Zornitza Stark gene: ERLIN2 was added
gene: ERLIN2 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: ERLIN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ERLIN2 were set to 23109145; 21330303; 32094424; 29528531
Phenotypes for gene: ERLIN2 were set to Spastic paraplegia 18, autosomal recessive, MIM# 611225
Review for gene: ERLIN2 was set to GREEN
Added comment: B-allelic variants: early onset complex HSP, including ID and contractures. Mono-allelic variants reported with isolated HSP, variable age of onset including childhood.
Sources: Expert list
Hereditary Spastic Paraplegia v0.22 ELOVL1 Zornitza Stark Marked gene: ELOVL1 as ready
Hereditary Spastic Paraplegia v0.22 ELOVL1 Zornitza Stark Gene: elovl1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.22 ELOVL1 Zornitza Stark Classified gene: ELOVL1 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.22 ELOVL1 Zornitza Stark Gene: elovl1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.21 ELOVL1 Zornitza Stark gene: ELOVL1 was added
gene: ELOVL1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: ELOVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ELOVL1 were set to 29496980; 32123819; 30487246
Phenotypes for gene: ELOVL1 were set to Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, MIM# 618527
Review for gene: ELOVL1 was set to GREEN
Added comment: Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic features (IKSHD) is characterized by epidermal hyperproliferation and increased keratinization, resulting in ichthyosis; hypomyelination of central white matter, causing spastic paraplegia and central nystagmus; and optic atrophy, resulting in reduction of peripheral vision and visual acuity. Affected individuals have mild facial dysmorphism.

Same two individuals reported in two publications. Both had the same variant, p.S165F, which arose de novo, suggesting the residue is important in pathogenesis. Mouse model.
Sources: Expert list
Hereditary Spastic Paraplegia v0.20 DDHD2 Zornitza Stark Marked gene: DDHD2 as ready
Hereditary Spastic Paraplegia v0.20 DDHD2 Zornitza Stark Gene: ddhd2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.20 DDHD2 Zornitza Stark Classified gene: DDHD2 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.20 DDHD2 Zornitza Stark Gene: ddhd2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.19 DDHD2 Zornitza Stark gene: DDHD2 was added
gene: DDHD2 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: DDHD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDHD2 were set to 23486545; 24482476; 23176823
Phenotypes for gene: DDHD2 were set to Spastic paraplegia 54, autosomal recessive, MIM# 615033
Review for gene: DDHD2 was set to GREEN
Added comment: At least 7 families reported. Affected individuals have delayed development, intellectual disability, and early-onset spasticity of the lower limbs. Brain MRI shows a thin corpus callosum and periventricular white matter lesions. Brain magnetic resonance spectroscopy shows an abnormal lipid peak.
Sources: Expert list
Hereditary Spastic Paraplegia v0.18 DDHD1 Zornitza Stark Marked gene: DDHD1 as ready
Hereditary Spastic Paraplegia v0.18 DDHD1 Zornitza Stark Gene: ddhd1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.18 DDHD1 Zornitza Stark Classified gene: DDHD1 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.18 DDHD1 Zornitza Stark Gene: ddhd1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.17 DDHD1 Zornitza Stark gene: DDHD1 was added
gene: DDHD1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: DDHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDHD1 were set to 23176821
Phenotypes for gene: DDHD1 were set to Spastic paraplegia 28, autosomal recessive, MIM# 609340
Review for gene: DDHD1 was set to GREEN
Added comment: At least three unrelated families reported, childhood onset.
Sources: Expert list
Hereditary Spastic Paraplegia v0.16 CYP7B1 Zornitza Stark Marked gene: CYP7B1 as ready
Hereditary Spastic Paraplegia v0.16 CYP7B1 Zornitza Stark Gene: cyp7b1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.16 CYP7B1 Zornitza Stark Classified gene: CYP7B1 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.16 CYP7B1 Zornitza Stark Gene: cyp7b1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.15 CYP7B1 Zornitza Stark gene: CYP7B1 was added
gene: CYP7B1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP7B1 were set to 19439420; 18252231
Phenotypes for gene: CYP7B1 were set to Spastic paraplegia 5A, autosomal recessive, MIM# 270800
Review for gene: CYP7B1 was set to GREEN
Added comment: Some individuals have pure spastic paraplegia affecting only gait, whereas others may have a complicated phenotype with additional manifestations, including optic atrophy or cerebellar ataxia. Onset highly variable, but childhood onset described in multiple individuals.
Sources: Expert list
Early-onset Dementia v0.47 ATN1 Bryony Thompson Classified gene: ATN1 as Green List (high evidence)
Early-onset Dementia v0.47 ATN1 Bryony Thompson Added comment: Comment on list classification: Note: trinucleotide repeat is the only cause of dementia for this gene. STRs are currently not detectable in WES/WGS technologies.
Early-onset Dementia v0.47 ATN1 Bryony Thompson Gene: atn1 has been classified as Green List (High Evidence).
Early-onset Dementia v0.46 ATN1 Bryony Thompson Deleted their comment
Early-onset Dementia v0.46 ATN1 Bryony Thompson Classified gene: ATN1 as Green List (high evidence)
Early-onset Dementia v0.46 ATN1 Bryony Thompson Added comment: Comment on list classification: STR only cause of dementia for this gene
Early-onset Dementia v0.46 ATN1 Bryony Thompson Gene: atn1 has been classified as Green List (High Evidence).
Early-onset Dementia v0.45 ATN1 Bryony Thompson gene: ATN1 was added
gene: ATN1 was added to Early-onset Dementia. Sources: Expert list
Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATN1 were set to 7633415
Phenotypes for gene: ATN1 were set to Dentatorubral-pallidoluysian atrophy MIM#125370
Mode of pathogenicity for gene: ATN1 was set to Other
Review for gene: ATN1 was set to GREEN
Added comment: DRPLA contains various combinations of myoclonus, seizures, ataxia, choreoathetosis, and dementia, and is only caused by trinucleotide repeat expansion. Mean age of onset is 30 years of age. From OMIM: In 22 patients unstable expansion of a CAG unit in the DRPLA gene was identified. Each patient was a heterozygote with 1 allele in the normal range (8-25 repeat units) and a second expanded allele with the range of 54-68 repeat units. There were no overlaps in the number of CAG repeat units between control chromosomes and DRPLA chromosomes.
Sources: Expert list
Ataxia v0.209 ABHD12 Zornitza Stark Marked gene: ABHD12 as ready
Ataxia v0.209 ABHD12 Zornitza Stark Gene: abhd12 has been classified as Green List (High Evidence).
Ataxia v0.209 ACO2 Zornitza Stark Marked gene: ACO2 as ready
Ataxia v0.209 ACO2 Zornitza Stark Gene: aco2 has been classified as Green List (High Evidence).
Ataxia v0.209 ACO2 Zornitza Stark Phenotypes for gene: ACO2 were changed from Infantile cerebellar-retinal degeneration to Infantile cerebellar-retinal degeneration, MIM#614559
Ataxia v0.208 ADGRG1 Zornitza Stark Marked gene: ADGRG1 as ready
Ataxia v0.208 ADGRG1 Zornitza Stark Gene: adgrg1 has been classified as Green List (High Evidence).
Ataxia v0.208 ADPRHL2 Zornitza Stark Marked gene: ADPRHL2 as ready
Ataxia v0.208 ADPRHL2 Zornitza Stark Gene: adprhl2 has been classified as Green List (High Evidence).
Ataxia v0.208 AHI1 Zornitza Stark Marked gene: AHI1 as ready
Ataxia v0.208 AHI1 Zornitza Stark Gene: ahi1 has been classified as Green List (High Evidence).
Ataxia v0.208 AHI1 Zornitza Stark Publications for gene: AHI1 were set to
Ataxia v0.207 ANO10 Zornitza Stark Marked gene: ANO10 as ready
Ataxia v0.207 ANO10 Zornitza Stark Gene: ano10 has been classified as Green List (High Evidence).
Ataxia v0.207 ARMC9 Zornitza Stark Marked gene: ARMC9 as ready
Ataxia v0.207 ARMC9 Zornitza Stark Gene: armc9 has been classified as Red List (Low Evidence).
Ataxia v0.207 ARMC9 Zornitza Stark Phenotypes for gene: ARMC9 were changed from Joubert syndrome 30 to Joubert syndrome 30, MIM#617622
Ataxia v0.206 ARMC9 Zornitza Stark Classified gene: ARMC9 as Red List (low evidence)
Ataxia v0.206 ARMC9 Zornitza Stark Gene: armc9 has been classified as Red List (Low Evidence).
Ataxia v0.205 ARSA Zornitza Stark Marked gene: ARSA as ready
Ataxia v0.205 ARSA Zornitza Stark Gene: arsa has been classified as Green List (High Evidence).
Ataxia v0.205 ATP8A2 Zornitza Stark Marked gene: ATP8A2 as ready
Ataxia v0.205 ATP8A2 Zornitza Stark Gene: atp8a2 has been classified as Green List (High Evidence).
Ataxia v0.205 ATP8A2 Zornitza Stark Phenotypes for gene: ATP8A2 were changed from Cerebellar ataxia, mental retardation and dysequilibirum syndrome 4 to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, MIM#615268
Ataxia v0.204 ATP8A2 Zornitza Stark Publications for gene: ATP8A2 were set to
Ataxia v0.203 CA8 Zornitza Stark Marked gene: CA8 as ready
Ataxia v0.203 CA8 Zornitza Stark Gene: ca8 has been classified as Green List (High Evidence).
Ataxia v0.203 CA8 Zornitza Stark Publications for gene: CA8 were set to
Ataxia v0.202 CAMTA1 Zornitza Stark Marked gene: CAMTA1 as ready
Ataxia v0.202 CAMTA1 Zornitza Stark Gene: camta1 has been classified as Green List (High Evidence).
Ataxia v0.202 CAMTA1 Zornitza Stark Publications for gene: CAMTA1 were set to
Ataxia v0.201 DOCK3 Zornitza Stark Marked gene: DOCK3 as ready
Ataxia v0.201 DOCK3 Zornitza Stark Gene: dock3 has been classified as Green List (High Evidence).
Ataxia v0.201 IRF2BPL Zornitza Stark Marked gene: IRF2BPL as ready
Ataxia v0.201 IRF2BPL Zornitza Stark Gene: irf2bpl has been classified as Green List (High Evidence).
Ataxia v0.201 IRF2BPL Zornitza Stark Publications for gene: IRF2BPL were set to
Ataxia v0.200 KCNA1 Zornitza Stark Marked gene: KCNA1 as ready
Ataxia v0.200 KCNA1 Zornitza Stark Gene: kcna1 has been classified as Green List (High Evidence).
Ataxia v0.200 KCNA1 Zornitza Stark Publications for gene: KCNA1 were set to
Ataxia v0.199 KCNA1 Zornitza Stark Mode of pathogenicity for gene: KCNA1 was changed from to Other
Ataxia v0.198 KCNA2 Zornitza Stark Marked gene: KCNA2 as ready
Ataxia v0.198 KCNA2 Zornitza Stark Gene: kcna2 has been classified as Green List (High Evidence).
Ataxia v0.198 KCNA2 Zornitza Stark Publications for gene: KCNA2 were set to
Ataxia v0.197 LAMA1 Zornitza Stark Marked gene: LAMA1 as ready
Ataxia v0.197 LAMA1 Zornitza Stark Gene: lama1 has been classified as Green List (High Evidence).
Ataxia v0.197 MAPK8IP3 Zornitza Stark Marked gene: MAPK8IP3 as ready
Ataxia v0.197 MAPK8IP3 Zornitza Stark Gene: mapk8ip3 has been classified as Green List (High Evidence).
Ataxia v0.197 MAPK8IP3 Zornitza Stark Phenotypes for gene: MAPK8IP3 were changed from Intellectual Disability with variable brain anomalies to Intellectual Disability with variable brain anomalies; Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431
Ataxia v0.196 MAPK8IP3 Zornitza Stark Publications for gene: MAPK8IP3 were set to
Ataxia v0.195 MVK Zornitza Stark Marked gene: MVK as ready
Ataxia v0.195 MVK Zornitza Stark Gene: mvk has been classified as Green List (High Evidence).
Ataxia v0.195 MVK Zornitza Stark Publications for gene: MVK were set to
Ataxia v0.194 NKX2-1 Zornitza Stark Marked gene: NKX2-1 as ready
Ataxia v0.194 NKX2-1 Zornitza Stark Gene: nkx2-1 has been classified as Green List (High Evidence).
Ataxia v0.194 NKX2-1 Zornitza Stark Publications for gene: NKX2-1 were set to
Ataxia v0.193 NPC2 Zornitza Stark Marked gene: NPC2 as ready
Ataxia v0.193 NPC2 Zornitza Stark Gene: npc2 has been classified as Green List (High Evidence).
Ataxia v0.193 OPA1 Zornitza Stark Marked gene: OPA1 as ready
Ataxia v0.193 OPA1 Zornitza Stark Gene: opa1 has been classified as Green List (High Evidence).
Ataxia v0.193 OPA1 Zornitza Stark Publications for gene: OPA1 were set to
Ataxia v0.192 OPHN1 Zornitza Stark Marked gene: OPHN1 as ready
Ataxia v0.192 OPHN1 Zornitza Stark Gene: ophn1 has been classified as Green List (High Evidence).
Ataxia v0.192 PLA2G6 Zornitza Stark Marked gene: PLA2G6 as ready
Ataxia v0.192 PLA2G6 Zornitza Stark Gene: pla2g6 has been classified as Green List (High Evidence).
Ataxia v0.192 PNKD Zornitza Stark Marked gene: PNKD as ready
Ataxia v0.192 PNKD Zornitza Stark Gene: pnkd has been classified as Green List (High Evidence).
Ataxia v0.192 PNKP Zornitza Stark Marked gene: PNKP as ready
Ataxia v0.192 PNKP Zornitza Stark Gene: pnkp has been classified as Green List (High Evidence).
Ataxia v0.192 PNKP Zornitza Stark Publications for gene: PNKP were set to
Ataxia v0.191 POLR3A Zornitza Stark Marked gene: POLR3A as ready
Ataxia v0.191 POLR3A Zornitza Stark Gene: polr3a has been classified as Green List (High Evidence).
Ataxia v0.191 SRD5A3 Zornitza Stark Marked gene: SRD5A3 as ready
Ataxia v0.191 SRD5A3 Zornitza Stark Gene: srd5a3 has been classified as Green List (High Evidence).
Ataxia v0.191 PRRT2 Zornitza Stark Marked gene: PRRT2 as ready
Ataxia v0.191 PRRT2 Zornitza Stark Gene: prrt2 has been classified as Green List (High Evidence).
Ataxia v0.191 TBC1D23 Zornitza Stark Marked gene: TBC1D23 as ready
Ataxia v0.191 TBC1D23 Zornitza Stark Gene: tbc1d23 has been classified as Green List (High Evidence).
Ataxia v0.191 TCTN1 Zornitza Stark Marked gene: TCTN1 as ready
Ataxia v0.191 TCTN1 Zornitza Stark Gene: tctn1 has been classified as Green List (High Evidence).
Ataxia v0.191 TDP2 Zornitza Stark Marked gene: TDP2 as ready
Ataxia v0.191 TDP2 Zornitza Stark Gene: tdp2 has been classified as Green List (High Evidence).
Ataxia v0.191 TTC19 Zornitza Stark Marked gene: TTC19 as ready
Ataxia v0.191 TTC19 Zornitza Stark Gene: ttc19 has been classified as Green List (High Evidence).
Ataxia v0.191 UCHL1 Zornitza Stark Marked gene: UCHL1 as ready
Ataxia v0.191 UCHL1 Zornitza Stark Gene: uchl1 has been classified as Green List (High Evidence).
Ataxia v0.191 WDR81 Zornitza Stark Marked gene: WDR81 as ready
Ataxia v0.191 WDR81 Zornitza Stark Gene: wdr81 has been classified as Green List (High Evidence).
Ataxia v0.191 WDR81 Zornitza Stark Publications for gene: WDR81 were set to
Ataxia v0.190 WFS1 Zornitza Stark Marked gene: WFS1 as ready
Ataxia v0.190 WFS1 Zornitza Stark Gene: wfs1 has been classified as Green List (High Evidence).
Ataxia v0.190 WFS1 Zornitza Stark Phenotypes for gene: WFS1 were changed from Wolfram syndrome 1, 222300 to Wolfram syndrome 1, 222300
Ataxia v0.189 WFS1 Zornitza Stark Publications for gene: WFS1 were set to
Ataxia v0.188 MTPAP Zornitza Stark Marked gene: MTPAP as ready
Ataxia v0.188 MTPAP Zornitza Stark Gene: mtpap has been classified as Amber List (Moderate Evidence).
Ataxia v0.188 UBR4 Zornitza Stark Marked gene: UBR4 as ready
Ataxia v0.188 UBR4 Zornitza Stark Gene: ubr4 has been classified as Amber List (Moderate Evidence).
Ataxia v0.188 UBR4 Zornitza Stark Publications for gene: UBR4 were set to 23982692
Ataxia v0.187 BBS10 Zornitza Stark Marked gene: BBS10 as ready
Ataxia v0.187 BBS10 Zornitza Stark Gene: bbs10 has been classified as Red List (Low Evidence).
Ataxia v0.187 BBS12 Zornitza Stark Marked gene: BBS12 as ready
Ataxia v0.187 BBS12 Zornitza Stark Gene: bbs12 has been classified as Red List (Low Evidence).
Ataxia v0.187 BBS2 Zornitza Stark Marked gene: BBS2 as ready
Ataxia v0.187 BBS2 Zornitza Stark Gene: bbs2 has been classified as Red List (Low Evidence).
Ataxia v0.187 BBS4 Zornitza Stark Marked gene: BBS4 as ready
Ataxia v0.187 BBS4 Zornitza Stark Gene: bbs4 has been classified as Red List (Low Evidence).
Ataxia v0.187 BBS5 Zornitza Stark Marked gene: BBS5 as ready
Ataxia v0.187 BBS5 Zornitza Stark Gene: bbs5 has been classified as Red List (Low Evidence).
Ataxia v0.187 BBS7 Zornitza Stark Marked gene: BBS7 as ready
Ataxia v0.187 BBS7 Zornitza Stark Gene: bbs7 has been classified as Red List (Low Evidence).
Ataxia v0.187 CHMP1A Zornitza Stark Marked gene: CHMP1A as ready
Ataxia v0.187 CHMP1A Zornitza Stark Gene: chmp1a has been classified as Red List (Low Evidence).
Ataxia v0.187 BBS9 Zornitza Stark Marked gene: BBS9 as ready
Ataxia v0.187 BBS9 Zornitza Stark Gene: bbs9 has been classified as Red List (Low Evidence).
Ataxia v0.187 PCDH12 Zornitza Stark Marked gene: PCDH12 as ready
Ataxia v0.187 PCDH12 Zornitza Stark Gene: pcdh12 has been classified as Red List (Low Evidence).
Ataxia v0.187 PCYT2 Zornitza Stark Marked gene: PCYT2 as ready
Ataxia v0.187 PCYT2 Zornitza Stark Gene: pcyt2 has been classified as Red List (Low Evidence).
Ataxia v0.187 SAR1B Zornitza Stark Marked gene: SAR1B as ready
Ataxia v0.187 SAR1B Zornitza Stark Gene: sar1b has been classified as Red List (Low Evidence).
Ataxia v0.187 TRIM32 Zornitza Stark Marked gene: TRIM32 as ready
Ataxia v0.187 TRIM32 Zornitza Stark Gene: trim32 has been classified as Red List (Low Evidence).
Ataxia v0.187 TUBB2A Zornitza Stark Marked gene: TUBB2A as ready
Ataxia v0.187 TUBB2A Zornitza Stark Gene: tubb2a has been classified as Red List (Low Evidence).
Ataxia v0.187 ZNF592 Zornitza Stark Marked gene: ZNF592 as ready
Ataxia v0.187 ZNF592 Zornitza Stark Gene: znf592 has been classified as Red List (Low Evidence).
Ataxia v0.187 TTC8 Zornitza Stark Marked gene: TTC8 as ready
Ataxia v0.187 TTC8 Zornitza Stark Gene: ttc8 has been classified as Red List (Low Evidence).
Ataxia v0.187 AAAS Zornitza Stark Marked gene: AAAS as ready
Ataxia v0.187 AAAS Zornitza Stark Gene: aaas has been classified as Green List (High Evidence).
Ataxia v0.187 GPAA1 Zornitza Stark Marked gene: GPAA1 as ready
Ataxia v0.187 GPAA1 Zornitza Stark Gene: gpaa1 has been classified as Green List (High Evidence).
Ataxia v0.187 RUBCN Zornitza Stark Marked gene: RUBCN as ready
Ataxia v0.187 RUBCN Zornitza Stark Gene: rubcn has been classified as Green List (High Evidence).
Ataxia v0.187 RUBCN Zornitza Stark Phenotypes for gene: RUBCN were changed from ?Spinocerebellar ataxia, autosomal recessive 15 to Spinocerebellar ataxia, autosomal recessive 15, MIM#615705
Ataxia v0.186 SVBP Zornitza Stark Marked gene: SVBP as ready
Ataxia v0.186 SVBP Zornitza Stark Gene: svbp has been classified as Green List (High Evidence).
Ataxia v0.186 SVBP Zornitza Stark Publications for gene: SVBP were set to
Ataxia v0.185 KCNQ2 Zornitza Stark Marked gene: KCNQ2 as ready
Ataxia v0.185 KCNQ2 Zornitza Stark Gene: kcnq2 has been classified as Amber List (Moderate Evidence).
Ataxia v0.185 KCNQ2 Zornitza Stark Publications for gene: KCNQ2 were set to
Ataxia v0.184 CCDC28B Zornitza Stark Marked gene: CCDC28B as ready
Ataxia v0.184 CCDC28B Zornitza Stark Gene: ccdc28b has been classified as Red List (Low Evidence).
Ataxia v0.184 CCDC28B Zornitza Stark Mode of inheritance for gene: CCDC28B was changed from BIALLELIC, autosomal or pseudoautosomal to Other
Ataxia v0.183 COQ5 Zornitza Stark Marked gene: COQ5 as ready
Ataxia v0.183 COQ5 Zornitza Stark Gene: coq5 has been classified as Red List (Low Evidence).
Ataxia v0.183 CYP2U1 Zornitza Stark Marked gene: CYP2U1 as ready
Ataxia v0.183 CYP2U1 Zornitza Stark Gene: cyp2u1 has been classified as Red List (Low Evidence).
Ataxia v0.183 ELOVL1 Zornitza Stark Marked gene: ELOVL1 as ready
Ataxia v0.183 ELOVL1 Zornitza Stark Gene: elovl1 has been classified as Red List (Low Evidence).
Ataxia v0.183 TSEN2 Zornitza Stark Marked gene: TSEN2 as ready
Ataxia v0.183 TSEN2 Zornitza Stark Gene: tsen2 has been classified as Red List (Low Evidence).
Ataxia v0.183 TSEN34 Zornitza Stark Marked gene: TSEN34 as ready
Ataxia v0.183 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Mendeliome v0.2345 SEC63 Zornitza Stark Marked gene: SEC63 as ready
Mendeliome v0.2345 SEC63 Zornitza Stark Gene: sec63 has been classified as Green List (High Evidence).
Mendeliome v0.2345 SEC63 Zornitza Stark Phenotypes for gene: SEC63 were changed from to Polycystic liver disease 2, MIM# 617004
Mendeliome v0.2344 SEC63 Zornitza Stark Publications for gene: SEC63 were set to
Mendeliome v0.2343 SEC63 Zornitza Stark Mode of inheritance for gene: SEC63 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2342 CYP1B1 Zornitza Stark Marked gene: CYP1B1 as ready
Mendeliome v0.2342 CYP1B1 Zornitza Stark Gene: cyp1b1 has been classified as Green List (High Evidence).
Mendeliome v0.2342 CYP1B1 Zornitza Stark Phenotypes for gene: CYP1B1 were changed from to Anterior segment dysgenesis 6, multiple subtypes, 617315; Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300
Mendeliome v0.2341 CYP1B1 Zornitza Stark Publications for gene: CYP1B1 were set to
Mendeliome v0.2340 CYP1B1 Zornitza Stark Mode of inheritance for gene: CYP1B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2339 DAG1 Zornitza Stark Marked gene: DAG1 as ready
Mendeliome v0.2339 DAG1 Zornitza Stark Gene: dag1 has been classified as Green List (High Evidence).
Mendeliome v0.2339 DAG1 Zornitza Stark Phenotypes for gene: DAG1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818; Walker-Warburg syndrome and tectocerebellar dysgraphia
Mendeliome v0.2338 DAG1 Zornitza Stark Publications for gene: DAG1 were set to
Mendeliome v0.2337 DAG1 Zornitza Stark Mode of inheritance for gene: DAG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.657 DPYD Zornitza Stark Marked gene: DPYD as ready
Genetic Epilepsy v0.657 DPYD Zornitza Stark Gene: dpyd has been classified as Green List (High Evidence).
Genetic Epilepsy v0.657 DPYD Zornitza Stark Phenotypes for gene: DPYD were changed from to Dihydropyrimidine dehydrogenase deficiency, MIM# 274270
Genetic Epilepsy v0.656 DPYD Zornitza Stark Publications for gene: DPYD were set to
Genetic Epilepsy v0.656 DPYD Zornitza Stark Mode of inheritance for gene: DPYD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.655 DPYD Zornitza Stark Tag SV/CNV tag was added to gene: DPYD.
Genetic Epilepsy v0.655 DPYD Zornitza Stark reviewed gene: DPYD: Rating: GREEN; Mode of pathogenicity: None; Publications: 19296131, 10071185; Phenotypes: Dihydropyrimidine dehydrogenase deficiency, MIM# 274270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2336 DPYD Zornitza Stark Marked gene: DPYD as ready
Mendeliome v0.2336 DPYD Zornitza Stark Gene: dpyd has been classified as Green List (High Evidence).
Mendeliome v0.2336 DPYD Zornitza Stark Phenotypes for gene: DPYD were changed from to 5-fluorouracil toxicity 274270; Dihydropyrimidine dehydrogenase deficiency 274270
Mendeliome v0.2335 DPYD Zornitza Stark Publications for gene: DPYD were set to
Mendeliome v0.2334 DPYD Zornitza Stark Mode of inheritance for gene: DPYD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2333 MFSD8 Zornitza Stark Marked gene: MFSD8 as ready
Mendeliome v0.2333 MFSD8 Zornitza Stark Gene: mfsd8 has been classified as Green List (High Evidence).
Mendeliome v0.2333 MFSD8 Zornitza Stark Phenotypes for gene: MFSD8 were changed from to Ceroid lipofuscinosis, neuronal, 7 610951; Macular dystrophy with central cone involvement 616170
Mendeliome v0.2332 MFSD8 Zornitza Stark Publications for gene: MFSD8 were set to
Mendeliome v0.2331 MFSD8 Zornitza Stark Mode of inheritance for gene: MFSD8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2330 NF1 Zornitza Stark Marked gene: NF1 as ready
Mendeliome v0.2330 NF1 Zornitza Stark Gene: nf1 has been classified as Green List (High Evidence).
Mendeliome v0.2330 NF1 Zornitza Stark Phenotypes for gene: NF1 were changed from to Leukemia, juvenile myelomonocytic 607785; Neurofibromatosis, familial spinal 162210; Neurofibromatosis, type 1 162200; Neurofibromatosis-Noonan syndrome 601321; Watson syndrome 193520
Mendeliome v0.2329 NF1 Zornitza Stark Mode of inheritance for gene: NF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.336 TECTA Zornitza Stark Marked gene: TECTA as ready
Deafness_IsolatedAndComplex v0.336 TECTA Zornitza Stark Gene: tecta has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.336 TECTA Zornitza Stark Phenotypes for gene: TECTA were changed from to Deafness, autosomal recessive 21 603629; Deafness, autosomal dominant 8/12 601543
Deafness_IsolatedAndComplex v0.335 TECTA Zornitza Stark Publications for gene: TECTA were set to
Deafness_IsolatedAndComplex v0.334 TECTA Zornitza Stark Mode of inheritance for gene: TECTA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.333 TECTA Zornitza Stark reviewed gene: TECTA: Rating: GREEN; Mode of pathogenicity: None; Publications: 22718023, 17136632, 31554319, 21520338; Phenotypes: Deafness, autosomal recessive 21 603629, Deafness, autosomal dominant 8/12 601543; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2328 TECTA Zornitza Stark Marked gene: TECTA as ready
Mendeliome v0.2328 TECTA Zornitza Stark Added comment: Comment when marking as ready: Both recessive and dominant deafness associations assessed as DEFINITIVE by ClinGen.
Mendeliome v0.2328 TECTA Zornitza Stark Gene: tecta has been classified as Green List (High Evidence).
Mendeliome v0.2328 TECTA Zornitza Stark Phenotypes for gene: TECTA were changed from to Deafness, autosomal recessive 21 603629; Deafness, autosomal dominant 8/12 601543
Mendeliome v0.2327 TECTA Zornitza Stark Publications for gene: TECTA were set to
Mendeliome v0.2326 TECTA Zornitza Stark Mode of pathogenicity for gene: TECTA was changed from to Other
Mendeliome v0.2325 TECTA Zornitza Stark Mode of inheritance for gene: TECTA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Microcephaly v0.112 TRAPPC9 Zornitza Stark Marked gene: TRAPPC9 as ready
Microcephaly v0.112 TRAPPC9 Zornitza Stark Gene: trappc9 has been classified as Green List (High Evidence).
Microcephaly v0.112 TRAPPC9 Zornitza Stark Phenotypes for gene: TRAPPC9 were changed from to Mental retardation, autosomal recessive 13, MIM# 613192
Microcephaly v0.111 TRAPPC9 Zornitza Stark Publications for gene: TRAPPC9 were set to
Microcephaly v0.110 TRAPPC9 Zornitza Stark Mode of inheritance for gene: TRAPPC9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.109 TRAPPC9 Zornitza Stark reviewed gene: TRAPPC9: Rating: GREEN; Mode of pathogenicity: None; Publications: 22549410, 20004765, 20004763, 30853973; Phenotypes: Mental retardation, autosomal recessive 13, MIM# 613192; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2324 TRAPPC9 Zornitza Stark Publications for gene: TRAPPC9 were set to 22549410; 20004765; 20004763
Mendeliome v0.2323 TRAPPC9 Zornitza Stark Marked gene: TRAPPC9 as ready
Mendeliome v0.2323 TRAPPC9 Zornitza Stark Gene: trappc9 has been classified as Green List (High Evidence).
Mendeliome v0.2323 TRAPPC9 Zornitza Stark Phenotypes for gene: TRAPPC9 were changed from to Mental retardation, autosomal recessive 13, MIM# 613192
Mendeliome v0.2322 TRAPPC9 Zornitza Stark Publications for gene: TRAPPC9 were set to
Mendeliome v0.2321 TRAPPC9 Zornitza Stark Mode of inheritance for gene: TRAPPC9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2320 TRAPPC9 Zornitza Stark reviewed gene: TRAPPC9: Rating: GREEN; Mode of pathogenicity: None; Publications: 22549410, 20004765, 20004763; Phenotypes: Mental retardation, autosomal recessive 13, MIM# 613192; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2320 SOS1 Zornitza Stark Marked gene: SOS1 as ready
Mendeliome v0.2320 SOS1 Zornitza Stark Added comment: Comment when marking as ready: The association with Noonan syndrome is well established; the association with gingival fibromatosis is questionable.
Mendeliome v0.2320 SOS1 Zornitza Stark Gene: sos1 has been classified as Green List (High Evidence).
Mendeliome v0.2320 SOS1 Zornitza Stark Phenotypes for gene: SOS1 were changed from to ?Fibromatosis, gingival, 1, 135300; Noonan syndrome 4, 610733
Mendeliome v0.2319 SOS1 Zornitza Stark Publications for gene: SOS1 were set to
Mendeliome v0.2318 SOS1 Zornitza Stark Mode of pathogenicity for gene: SOS1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mendeliome v0.2317 SOS1 Zornitza Stark Mode of inheritance for gene: SOS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.19 F11 Zornitza Stark Marked gene: F11 as ready
Bleeding and Platelet Disorders v0.19 F11 Zornitza Stark Gene: f11 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.19 F11 Zornitza Stark Phenotypes for gene: F11 were changed from to Factor XI deficiency, autosomal dominant 612416; Factor XI deficiency, autosomal recessive, MIM#612416
Bleeding and Platelet Disorders v0.18 F11 Zornitza Stark Publications for gene: F11 were set to
Bleeding and Platelet Disorders v0.17 F11 Zornitza Stark Mode of inheritance for gene: F11 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.16 F11 Zornitza Stark reviewed gene: F11: Rating: GREEN; Mode of pathogenicity: None; Publications: 18446632, 15026311; Phenotypes: Factor XI deficiency, autosomal dominant 612416, Factor XI deficiency, autosomal recessive, MIM#612416; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.2316 F11 Zornitza Stark Marked gene: F11 as ready
Mendeliome v0.2316 F11 Zornitza Stark Gene: f11 has been classified as Green List (High Evidence).
Mendeliome v0.2316 F11 Zornitza Stark Phenotypes for gene: F11 were changed from to Factor XI deficiency, autosomal dominant 612416; Factor XI deficiency, autosomal recessive, MIM#612416
Mendeliome v0.2315 F11 Zornitza Stark Publications for gene: F11 were set to
Mendeliome v0.2314 F11 Zornitza Stark Mode of inheritance for gene: F11 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.2313 MED13L Zornitza Stark Marked gene: MED13L as ready
Mendeliome v0.2313 MED13L Zornitza Stark Added comment: Comment when marking as ready: The evidence for isolated CHD much less compelling than the association with a neurodevelopmental syndrome.
Mendeliome v0.2313 MED13L Zornitza Stark Gene: med13l has been classified as Green List (High Evidence).
Mendeliome v0.2313 MED13L Zornitza Stark Phenotypes for gene: MED13L were changed from to Mental retardation and distinctive facial features with or without cardiac defects 616789; Transposition of the great arteries, dextro-looped 1 608808
Autism v0.83 FMR1 Bryony Thompson Tag STR tag was added to gene: FMR1.
Hydrocephalus_Ventriculomegaly v0.15 FMR1 Bryony Thompson Tag STR tag was added to gene: FMR1.
Mendeliome v0.2312 FMR1 Bryony Thompson Tag STR tag was added to gene: FMR1.
Intellectual disability syndromic and non-syndromic v0.2524 FMR1 Bryony Thompson Tag STR tag was added to gene: FMR1.
Mendeliome v0.2312 DMPK Bryony Thompson Tag STR tag was added to gene: DMPK.
Mendeliome v0.2312 MED13L Zornitza Stark Publications for gene: MED13L were set to
Mendeliome v0.2311 MED13L Zornitza Stark Mode of inheritance for gene: MED13L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2310 PROKR2 Zornitza Stark Marked gene: PROKR2 as ready
Mendeliome v0.2310 PROKR2 Zornitza Stark Gene: prokr2 has been classified as Green List (High Evidence).
Callosome v0.123 PROKR2 Zornitza Stark Marked gene: PROKR2 as ready
Callosome v0.123 PROKR2 Zornitza Stark Gene: prokr2 has been classified as Amber List (Moderate Evidence).
Callosome v0.123 PROKR2 Zornitza Stark Phenotypes for gene: PROKR2 were changed from to Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200
Callosome v0.122 PROKR2 Zornitza Stark Mode of inheritance for gene: PROKR2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Callosome v0.121 PROKR2 Zornitza Stark Classified gene: PROKR2 as Amber List (moderate evidence)
Callosome v0.121 PROKR2 Zornitza Stark Gene: prokr2 has been classified as Amber List (Moderate Evidence).
Incidentalome v0.16 C9orf72 Bryony Thompson Tag STR tag was added to gene: C9orf72.
Callosome v0.120 PROKR2 Zornitza Stark reviewed gene: PROKR2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early-onset Parkinson disease v0.29 C9orf72 Bryony Thompson Marked gene: C9orf72 as ready
Early-onset Parkinson disease v0.29 C9orf72 Bryony Thompson Gene: c9orf72 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.29 C9orf72 Bryony Thompson Classified gene: C9orf72 as Green List (high evidence)
Early-onset Parkinson disease v0.29 C9orf72 Bryony Thompson Gene: c9orf72 has been classified as Green List (High Evidence).
Mendeliome v0.2310 BEAN1 Bryony Thompson Tag STR tag was added to gene: BEAN1.
Differences of Sex Development v0.14 PROKR2 Zornitza Stark reviewed gene: PROKR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18826963, 29161432; Phenotypes: Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2310 CCT5 Bryony Thompson Classified gene: CCT5 as Amber List (moderate evidence)
Mendeliome v0.2310 CCT5 Bryony Thompson Gene: cct5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2309 CCT5 Bryony Thompson reviewed gene: CCT5: Rating: AMBER; Mode of pathogenicity: None; Publications: 16399879, 25124038, 25345891; Phenotypes: Neuropathy, hereditary sensory, with spastic paraplegia MIM#256840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.55 CCT5 Bryony Thompson Classified gene: CCT5 as Amber List (moderate evidence)
Hereditary Neuropathy v0.55 CCT5 Bryony Thompson Gene: cct5 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.54 CCT5 Bryony Thompson edited their review of gene: CCT5: Changed rating: AMBER
Hereditary Neuropathy v0.54 CCT5 Bryony Thompson Classified gene: CCT5 as Red List (low evidence)
Hereditary Neuropathy v0.54 CCT5 Bryony Thompson Gene: cct5 has been classified as Red List (Low Evidence).
Hereditary Neuropathy v0.53 CCT5 Bryony Thompson reviewed gene: CCT5: Rating: RED; Mode of pathogenicity: None; Publications: 16399879, 25124038, 25345891; Phenotypes: Neuropathy, hereditary sensory, with spastic paraplegia MIM#256840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2309 PROKR2 Zornitza Stark Phenotypes for gene: PROKR2 were changed from to Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200
Mendeliome v0.2308 PROKR2 Zornitza Stark Publications for gene: PROKR2 were set to
Mendeliome v0.2307 PROKR2 Zornitza Stark Mode of pathogenicity for gene: PROKR2 was changed from to Other
Mendeliome v0.2306 PROKR2 Zornitza Stark Mode of inheritance for gene: PROKR2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.14 CCT5 Bryony Thompson Classified gene: CCT5 as Red List (low evidence)
Hereditary Spastic Paraplegia v0.14 CCT5 Bryony Thompson Gene: cct5 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia v0.13 CCT5 Bryony Thompson reviewed gene: CCT5: Rating: RED; Mode of pathogenicity: None; Publications: 16399879; Phenotypes: Neuropathy, hereditary sensory, with spastic paraplegia MIM#256840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.13 BSCL2 Bryony Thompson Marked gene: BSCL2 as ready
Hereditary Spastic Paraplegia v0.13 BSCL2 Bryony Thompson Gene: bscl2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.13 BSCL2 Bryony Thompson Classified gene: BSCL2 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.13 BSCL2 Bryony Thompson Gene: bscl2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.12 BSCL2 Bryony Thompson gene: BSCL2 was added
gene: BSCL2 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BSCL2 were set to Silver spastic paraplegia syndrome MIM#270685; Encephalopathy, progressive, with or without lipodystrophy MIM#615924
Review for gene: BSCL2 was set to GREEN
Added comment: Variable age of onset, including paediatric onset.
Sources: Expert list
Hereditary Spastic Paraplegia v0.11 B4GALNT1 Bryony Thompson Marked gene: B4GALNT1 as ready
Hereditary Spastic Paraplegia v0.11 B4GALNT1 Bryony Thompson Gene: b4galnt1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.11 B4GALNT1 Bryony Thompson Classified gene: B4GALNT1 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.11 B4GALNT1 Bryony Thompson Gene: b4galnt1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.10 B4GALNT1 Bryony Thompson gene: B4GALNT1 was added
gene: B4GALNT1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: B4GALNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B4GALNT1 were set to Spastic paraplegia 26, autosomal recessive MIM#609195
Review for gene: B4GALNT1 was set to GREEN
Added comment: Onset in first or second decades of life.
Sources: Expert list
Hereditary Spastic Paraplegia v0.9 ARSI Bryony Thompson reviewed gene: ARSI: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: Complex spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.9 ATL1 Bryony Thompson Marked gene: ATL1 as ready
Hereditary Spastic Paraplegia v0.9 ATL1 Bryony Thompson Gene: atl1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.9 ATL1 Bryony Thompson Classified gene: ATL1 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.9 ATL1 Bryony Thompson Gene: atl1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.8 ATL1 Bryony Thompson gene: ATL1 was added
gene: ATL1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: ATL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATL1 were set to Spastic paraplegia 3A, autosomal dominant MIM#182600
Review for gene: ATL1 was set to GREEN
Added comment: Usually shows early age at onset.
Sources: Expert list
Mendeliome v0.2305 PROKR2 Elena Savva reviewed gene: PROKR2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID:18826963, 29161432; Phenotypes: Hypogonadotropic hypogonadism 3 with or without anosmia 244200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Malformations of cortical development_Superpanel v0.0 Bryony Thompson Added Panel Malformations of cortical development Superpanel
Set child panels to: Polymicrogyria and Schizencephaly; Lissencephaly and Band Heterotopia; Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly; Cobblestone Malformations
Mendeliome v0.2305 MED13L Elena Savva reviewed gene: MED13L: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID 29511999; Phenotypes: Mental retardation and distinctive facial features with or without cardiac defects 616789, Transposition of the great arteries, dextro-looped 1 608808; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.2305 F11 Elena Savva reviewed gene: F11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:18446632, 15026311; Phenotypes: Factor XI deficiency, autosomal dominant 612416, Factor XI deficiency, autosomal recessive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2305 SOS1 Elena Savva reviewed gene: SOS1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 25062969, 17143285, 17143282; Phenotypes: ?Fibromatosis, gingival, 1, 135300, Noonan syndrome 4, 610733; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.2305 XRCC1 Bryony Thompson Marked gene: XRCC1 as ready
Mendeliome v0.2305 XRCC1 Bryony Thompson Gene: xrcc1 has been classified as Green List (High Evidence).
Mendeliome v0.2305 XRCC1 Bryony Thompson Classified gene: XRCC1 as Green List (high evidence)
Mendeliome v0.2305 XRCC1 Bryony Thompson Gene: xrcc1 has been classified as Green List (High Evidence).
Mendeliome v0.2304 XRCC1 Bryony Thompson gene: XRCC1 was added
gene: XRCC1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: XRCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XRCC1 were set to 28002403; 29472272
Phenotypes for gene: XRCC1 were set to Spinocerebellar ataxia, autosomal recessive 26 MIM#617633
Review for gene: XRCC1 was set to GREEN
Added comment: Three South Asian cases (one with early adult onset and the other two with onset in childhood) reported with slowly progressive cerebellar ataxia accompanied by sensorimotor neuropathy. All with the recurrent splice variant (c.1293G>C, 2 homozygotes and a compound heterozygote). Mice with conditional deletion of the Xrcc1 gene in the brain showed cerebellar ataxia.
Sources: Expert list
Hereditary Neuropathy v0.53 XRCC1 Bryony Thompson Classified gene: XRCC1 as Green List (high evidence)
Hereditary Neuropathy v0.53 XRCC1 Bryony Thompson Gene: xrcc1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.52 XRCC1 Bryony Thompson gene: XRCC1 was added
gene: XRCC1 was added to Hereditary Neuropathy - complex. Sources: Expert list
Mode of inheritance for gene: XRCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XRCC1 were set to 28002403; 29472272
Phenotypes for gene: XRCC1 were set to Spinocerebellar ataxia, autosomal recessive 26 MIM#617633
Review for gene: XRCC1 was set to GREEN
Added comment: Three South Asian cases (one with early adult onset and the other two with onset in childhood) reported with slowly progressive cerebellar ataxia accompanied by sensorimotor neuropathy. All with the recurrent splice variant (c.1293G>C, 2 homozygotes and a compound heterozygote). Mice with conditional deletion of the Xrcc1 gene in the brain showed cerebellar ataxia.
Sources: Expert list
Ataxia v0.183 XRCC1 Bryony Thompson Marked gene: XRCC1 as ready
Ataxia v0.183 XRCC1 Bryony Thompson Gene: xrcc1 has been classified as Green List (High Evidence).
Ataxia v0.183 XRCC1 Bryony Thompson Classified gene: XRCC1 as Green List (high evidence)
Ataxia v0.183 XRCC1 Bryony Thompson Gene: xrcc1 has been classified as Green List (High Evidence).
Ataxia v0.182 XRCC1 Bryony Thompson gene: XRCC1 was added
gene: XRCC1 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: XRCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XRCC1 were set to 28002403; 29472272
Phenotypes for gene: XRCC1 were set to Spinocerebellar ataxia, autosomal recessive 26 MIM#617633
Review for gene: XRCC1 was set to GREEN
Added comment: Three South Asian cases (one with early adult onset and the other two with onset in childhood) reported with slowly progressive cerebellar ataxia accompanied by sensorimotor neuropathy. All with the recurrent splice variant (c.1293G>C, 2 homozygotes and a compound heterozygote). Mice with conditional deletion of the Xrcc1 gene in the brain showed cerebellar ataxia.
Sources: Expert list
Mendeliome v0.2303 TRAPPC9 Elena Savva reviewed gene: TRAPPC9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal recessive 13, 613192; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2303 TECTA Elena Savva reviewed gene: TECTA: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID:22718023, 17136632, 31554319, 21520338; Phenotypes: Deafness, autosomal recessive 21 603629, Deafness, autosomal dominant 8/12 601543; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.2303 NF1 Elena Savva reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukemia, juvenile myelomonocytic 607785, Neurofibromatosis, familial spinal 162210, Neurofibromatosis, type 1 162200, Neurofibromatosis-Noonan syndrome 601321, Watson syndrome 193520; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.2303 TRPC3 Bryony Thompson Marked gene: TRPC3 as ready
Mendeliome v0.2303 TRPC3 Bryony Thompson Gene: trpc3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2303 TRPC3 Bryony Thompson Classified gene: TRPC3 as Amber List (moderate evidence)
Mendeliome v0.2303 TRPC3 Bryony Thompson Gene: trpc3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2302 TRPC3 Bryony Thompson gene: TRPC3 was added
gene: TRPC3 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: TRPC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPC3 were set to 25477146; 19351902
Phenotypes for gene: TRPC3 were set to Spinocerebellar ataxia 41 MIM#616410
Mode of pathogenicity for gene: TRPC3 was set to Other
Review for gene: TRPC3 was set to AMBER
Added comment: A heterozygous gain-of function missense has been identified in a 40-year-old man with adult-onset spinocerebellar ataxia. A mouse model of dominant cerebellar ataxia, termed 'moonwalker', contains a gain-of-function variant in this gene.
Sources: Expert list
Mendeliome v0.2301 MFSD8 Elena Savva reviewed gene: MFSD8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:31006324; Phenotypes: Ceroid lipofuscinosis, neuronal, 7 610951, Macular dystrophy with central cone involvement 616170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2301 DPYD Elena Savva reviewed gene: DPYD: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29152729; Phenotypes: 5-fluorouracil toxicity 274270, Dihydropyrimidine dehydrogenase deficiency 274270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2301 DAG1 Elena Savva reviewed gene: DAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29337005, 25503980; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818, Walker-Warburg syndrome and tectocerebellar dysgraphia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2301 CYP1B1 Elena Savva reviewed gene: CYP1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:21730847, 27243976; Phenotypes: Anterior segment dysgenesis 6, multiple subtypes, 617315, Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2301 SEC63 Elena Savva reviewed gene: SEC63: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23209713, 20095989; Phenotypes: Polycystic liver disease 2 617004; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Ataxia v0.181 RUBCN Bryony Thompson Classified gene: RUBCN as Green List (high evidence)
Ataxia v0.181 RUBCN Bryony Thompson Added comment: Comment on list classification: Also supporting in vitro functional assays.
Ataxia v0.181 RUBCN Bryony Thompson Gene: rubcn has been classified as Green List (High Evidence).
Ataxia v0.180 PCDH12 Bryony Thompson reviewed gene: PCDH12: Rating: RED; Mode of pathogenicity: None; Publications: 30459466; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.180 C5orf42 Zornitza Stark Marked gene: C5orf42 as ready
Ataxia v0.180 C5orf42 Zornitza Stark Gene: c5orf42 has been classified as Green List (High Evidence).
Ataxia v0.180 C5orf42 Zornitza Stark Phenotypes for gene: C5orf42 were changed from Joubert syndrome 17 to Joubert syndrome 17, MIM# 614615
Ataxia v0.179 C5orf42 Zornitza Stark reviewed gene: C5orf42: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 17, MIM# 614615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.179 ATCAY Zornitza Stark Marked gene: ATCAY as ready
Ataxia v0.179 ATCAY Zornitza Stark Gene: atcay has been classified as Amber List (Moderate Evidence).
Ataxia v0.179 ATCAY Zornitza Stark Phenotypes for gene: ATCAY were changed from Cayman Ataxia, 601238; Cerebellar Ataxia, Cayman type; Ataxia, cerebellar, Cayman type to Ataxia, cerebellar, Cayman type, MIM# 601238
Ataxia v0.178 ATCAY Zornitza Stark Publications for gene: ATCAY were set to
Ataxia v0.177 ATCAY Zornitza Stark Classified gene: ATCAY as Amber List (moderate evidence)
Ataxia v0.177 ATCAY Zornitza Stark Gene: atcay has been classified as Amber List (Moderate Evidence).
Ataxia v0.176 ATCAY Zornitza Stark reviewed gene: ATCAY: Rating: AMBER; Mode of pathogenicity: None; Publications: 14556008; Phenotypes: Ataxia, cerebellar, Cayman type, MIM# 601238; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.176 ARL13B Zornitza Stark Marked gene: ARL13B as ready
Ataxia v0.176 ARL13B Zornitza Stark Gene: arl13b has been classified as Green List (High Evidence).
Ataxia v0.176 ARL13B Zornitza Stark Phenotypes for gene: ARL13B were changed from Joubert syndrome 8 to Joubert syndrome 8, MIM# 612291
Ataxia v0.175 ARL13B Zornitza Stark reviewed gene: ARL13B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 8, MIM# 612291; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.175 NKX2-1 Bryony Thompson reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10931427, 27066577, 26839702, 26103969; Phenotypes: Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978, Chorea, hereditary benign MIM#118700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia v0.175 PEX7 Zornitza Stark Marked gene: PEX7 as ready
Ataxia v0.175 PEX7 Zornitza Stark Gene: pex7 has been classified as Green List (High Evidence).
Ataxia v0.175 PEX7 Zornitza Stark Phenotypes for gene: PEX7 were changed from Refsum disease; Peroxisome biogenesis disorder 9B to Refsum disease; Peroxisome biogenesis disorder 9B, MIM#614879
Ataxia v0.174 PEX7 Zornitza Stark reviewed gene: PEX7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 9B, MIM# 614879; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.174 PHYH Zornitza Stark Marked gene: PHYH as ready
Ataxia v0.174 PHYH Zornitza Stark Gene: phyh has been classified as Green List (High Evidence).
Ataxia v0.174 PHYH Zornitza Stark Phenotypes for gene: PHYH were changed from Refsum disease to Refsum disease, MIM# 266500
Ataxia v0.173 PHYH Zornitza Stark reviewed gene: PHYH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Refsum disease, MIM# 266500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.173 PMPCB Zornitza Stark Marked gene: PMPCB as ready
Ataxia v0.173 PMPCB Zornitza Stark Gene: pmpcb has been classified as Green List (High Evidence).
Ataxia v0.173 PMPCB Zornitza Stark Publications for gene: PMPCB were set to
Ataxia v0.172 PMPCB Zornitza Stark reviewed gene: PMPCB: Rating: GREEN; Mode of pathogenicity: None; Publications: 29576218; Phenotypes: Multiple mitochondrial dysfunctions syndrome 6, MIM# 617954; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.172 POLR3B Zornitza Stark Marked gene: POLR3B as ready
Ataxia v0.172 POLR3B Zornitza Stark Gene: polr3b has been classified as Green List (High Evidence).
Ataxia v0.172 POLR3B Zornitza Stark Phenotypes for gene: POLR3B were changed from Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism to Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM#614381
Ataxia v0.171 MVK Bryony Thompson reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: None; Publications: 12563048, 10401001, 28095071; Phenotypes: Mevalonic aciduria MIM#610377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.171 POLR3B Zornitza Stark Publications for gene: POLR3B were set to
Ataxia v0.170 POLR3B Zornitza Stark reviewed gene: POLR3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 22036171, 22036172; Phenotypes: Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 614381; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.170 PTRH2 Zornitza Stark Marked gene: PTRH2 as ready
Ataxia v0.170 PTRH2 Zornitza Stark Gene: ptrh2 has been classified as Green List (High Evidence).
Ataxia v0.170 PTRH2 Zornitza Stark Publications for gene: PTRH2 were set to
Ataxia v0.169 PTRH2 Zornitza Stark reviewed gene: PTRH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25558065, 25574476, 31057140, 27129381; Phenotypes: Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, MIM# 616263; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.169 RARS2 Zornitza Stark Marked gene: RARS2 as ready
Ataxia v0.169 RARS2 Zornitza Stark Gene: rars2 has been classified as Red List (Low Evidence).
Ataxia v0.169 RARS2 Zornitza Stark Publications for gene: RARS2 were set to 31429931
Ataxia v0.168 RARS2 Zornitza Stark reviewed gene: RARS2: Rating: RED; Mode of pathogenicity: None; Publications: 17847012, 25809939, 20635367; Phenotypes: Pontocerebellar hypoplasia, type 6, MIM# 611523; Mode of inheritance: None
Ataxia v0.168 RPGRIP1L Zornitza Stark Marked gene: RPGRIP1L as ready
Ataxia v0.168 RPGRIP1L Zornitza Stark Gene: rpgrip1l has been classified as Green List (High Evidence).
Ataxia v0.168 RPGRIP1L Zornitza Stark Phenotypes for gene: RPGRIP1L were changed from Joubert syndrome 7 to Joubert syndrome 7, MIM# 611560
Ataxia v0.167 RPGRIP1L Zornitza Stark reviewed gene: RPGRIP1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 7, MIM# 611560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.167 SCN1A Zornitza Stark Marked gene: SCN1A as ready
Ataxia v0.167 SCN1A Zornitza Stark Gene: scn1a has been classified as Green List (High Evidence).
Ataxia v0.167 SCN1A Zornitza Stark Phenotypes for gene: SCN1A were changed from Familial hemiplegic migraine 3, 609634; familial hemiplegic migraine 3; Familial febrile seziures 3A, 604403; several epilepsy, convulsion and migraine disorders.; Generalised epilepsy with febrile seizures type 2, 604403; Epileptic encephalopathy 6, 607208; Dravet syndrome to Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208
Ataxia v0.166 SCN1A Zornitza Stark reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia v0.166 SCN2A Zornitza Stark Marked gene: SCN2A as ready
Ataxia v0.166 SCN2A Zornitza Stark Gene: scn2a has been classified as Green List (High Evidence).
Ataxia v0.166 SCN2A Zornitza Stark Phenotypes for gene: SCN2A were changed from Early infantile epileptic encephalopathy 11 to Early infantile epileptic encephalopathy 11, MIM# 613721
Ataxia v0.165 SCN2A Zornitza Stark reviewed gene: SCN2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 11, MIM# 613721; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia v0.165 SCYL1 Zornitza Stark Marked gene: SCYL1 as ready
Ataxia v0.165 SCYL1 Zornitza Stark Gene: scyl1 has been classified as Green List (High Evidence).
Ataxia v0.165 SCYL1 Zornitza Stark Publications for gene: SCYL1 were set to
Ataxia v0.164 SCYL1 Zornitza Stark reviewed gene: SCYL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29419818, 17571074, 26581903, 30531813; Phenotypes: Spinocerebellar ataxia, autosomal recessive 21, MIM# 616719; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.164 CTBP1 Bryony Thompson Marked gene: CTBP1 as ready
Ataxia v0.164 CTBP1 Bryony Thompson Gene: ctbp1 has been classified as Green List (High Evidence).
Ataxia v0.164 CTBP1 Bryony Thompson Classified gene: CTBP1 as Green List (high evidence)
Ataxia v0.164 CTBP1 Bryony Thompson Gene: ctbp1 has been classified as Green List (High Evidence).
Ataxia v0.163 CTBP1 Bryony Thompson gene: CTBP1 was added
gene: CTBP1 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: CTBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CTBP1 were set to 27094857; 28955726; 31041561
Phenotypes for gene: CTBP1 were set to Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, MIM#617915
Review for gene: CTBP1 was set to GREEN
Added comment: Paediatric onset of ataxia and >3 cases reported.
Sources: Expert list
Ataxia v0.161 VRK1 Bryony Thompson Deleted their review
Ataxia v0.161 VRK1 Bryony Thompson Deleted their comment
Ataxia v0.161 UBR4 Bryony Thompson Classified gene: UBR4 as Amber List (moderate evidence)
Ataxia v0.161 UBR4 Bryony Thompson Gene: ubr4 has been classified as Amber List (Moderate Evidence).
Ataxia v0.159 TUBB2A Bryony Thompson Publications for gene: TUBB2A were set to 29547997
Ataxia v0.158 TUBB2A Bryony Thompson Classified gene: TUBB2A as Red List (low evidence)
Ataxia v0.158 TUBB2A Bryony Thompson Gene: tubb2a has been classified as Red List (Low Evidence).
Ataxia v0.157 TUBB2A Bryony Thompson reviewed gene: TUBB2A: Rating: RED; Mode of pathogenicity: None; Publications: 29547997, 32203252; Phenotypes: Cortical dysplasia, complex, with other brain malformations 5 MIM#615763; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia v0.157 TUBA1A Bryony Thompson Marked gene: TUBA1A as ready
Ataxia v0.157 TUBA1A Bryony Thompson Gene: tuba1a has been classified as Red List (Low Evidence).
Ataxia v0.157 TUBA1A Bryony Thompson reviewed gene: TUBA1A: Rating: RED; Mode of pathogenicity: None; Publications: 21403111; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia v0.157 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Ataxia v0.156 SETX Bryony Thompson Marked gene: SETX as ready
Ataxia v0.156 SETX Bryony Thompson Gene: setx has been classified as Green List (High Evidence).
Ataxia v0.156 SETX Bryony Thompson Classified gene: SETX as Green List (high evidence)
Ataxia v0.156 SETX Bryony Thompson Gene: setx has been classified as Green List (High Evidence).
Ataxia v0.155 SETX Bryony Thompson gene: SETX was added
gene: SETX was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: SETX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SETX were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MIM#606002
Review for gene: SETX was set to GREEN
Added comment: Onset usually in mid-teens, average 15 years (range 2 to 20 years).
Sources: Expert list
Ataxia v0.154 SACS Bryony Thompson Marked gene: SACS as ready
Ataxia v0.154 SACS Bryony Thompson Gene: sacs has been classified as Green List (High Evidence).
Ataxia v0.154 SACS Bryony Thompson Classified gene: SACS as Green List (high evidence)
Ataxia v0.154 SACS Bryony Thompson Gene: sacs has been classified as Green List (High Evidence).
Ataxia v0.153 SACS Bryony Thompson gene: SACS was added
gene: SACS was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type MIM#270550
Review for gene: SACS was set to GREEN
Added comment: Onset usually in infancy or early childhood.
Sources: Expert list
Ataxia v0.152 RNF216 Bryony Thompson Marked gene: RNF216 as ready
Ataxia v0.152 RNF216 Bryony Thompson Gene: rnf216 has been classified as Green List (High Evidence).
Ataxia v0.152 RNF216 Bryony Thompson Classified gene: RNF216 as Green List (high evidence)
Ataxia v0.152 RNF216 Bryony Thompson Gene: rnf216 has been classified as Green List (High Evidence).
Ataxia v0.151 RNF216 Bryony Thompson gene: RNF216 was added
gene: RNF216 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: RNF216 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNF216 were set to Cerebellar ataxia and hypogonadotropic hypogonadism MIM#212840
Review for gene: RNF216 was set to GREEN
Added comment: Onset of ataxia is variable and can be from early childhood (ORPHA:1173).
Sources: Expert list
Ataxia v0.150 PRRT2 Bryony Thompson Classified gene: PRRT2 as Green List (high evidence)
Ataxia v0.150 PRRT2 Bryony Thompson Gene: prrt2 has been classified as Green List (High Evidence).
Ataxia v0.149 PRRT2 Bryony Thompson gene: PRRT2 was added
gene: PRRT2 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: PRRT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PRRT2 were set to 26598494; 31193310; 30501978; 30713971
Phenotypes for gene: PRRT2 were set to Episodic kinesigenic dyskinesia 1 MIM#128200; Convulsions, familial infantile, with paroxysmal choreoathetosis MIM#602066; Seizures, benign familial infantile, 2 MIM#605751
Review for gene: PRRT2 was set to GREEN
Added comment: Ataxia can be a prominent feature of the condition, particularly in biallelic cases. Onset of ataxia is variable, from paediatric to adult.
Sources: Expert list
Ataxia v0.148 SLC17A5 Zornitza Stark Marked gene: SLC17A5 as ready
Ataxia v0.148 SLC17A5 Zornitza Stark Gene: slc17a5 has been classified as Green List (High Evidence).
Ataxia v0.148 SLC17A5 Zornitza Stark Phenotypes for gene: SLC17A5 were changed from Salla disease; Sialic acid storage disease, severe infantile type to Salla disease; Sialic acid storage disease, severe infantile type, MIM# 269920
Ataxia v0.147 SLC17A5 Zornitza Stark reviewed gene: SLC17A5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sialic acid storage disorder, infantile, MIM# 269920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.147 SLC25A46 Zornitza Stark Marked gene: SLC25A46 as ready
Ataxia v0.147 SLC25A46 Zornitza Stark Gene: slc25a46 has been classified as Green List (High Evidence).
Ataxia v0.147 SLC25A46 Zornitza Stark reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.147 POLG Bryony Thompson Marked gene: POLG as ready
Ataxia v0.147 POLG Bryony Thompson Gene: polg has been classified as Green List (High Evidence).
Ataxia v0.147 POLG Bryony Thompson Classified gene: POLG as Green List (high evidence)
Ataxia v0.147 POLG Bryony Thompson Gene: polg has been classified as Green List (High Evidence).
Ataxia v0.146 SLC52A2 Zornitza Stark Marked gene: SLC52A2 as ready
Ataxia v0.146 SLC52A2 Zornitza Stark Gene: slc52a2 has been classified as Green List (High Evidence).
Ataxia v0.146 POLG Bryony Thompson gene: POLG was added
gene: POLG was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4A (Alpers type) MIM#203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type) MIM#613662; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) MIM#607459; Progressive external ophthalmoplegia, autosomal recessive 1 MIM#258450
Review for gene: POLG was set to GREEN
Added comment: Variable age of onset, including infancy and early childhood.
Sources: Expert list
Ataxia v0.145 SLC52A2 Zornitza Stark reviewed gene: SLC52A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brown-Vialetto-Van Laere syndrome 2, MIM# 614707; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.333 SLC9A1 Zornitza Stark Marked gene: SLC9A1 as ready
Deafness_IsolatedAndComplex v0.333 SLC9A1 Zornitza Stark Gene: slc9a1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.333 SLC9A1 Zornitza Stark Classified gene: SLC9A1 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.333 SLC9A1 Zornitza Stark Gene: slc9a1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.332 SLC9A1 Zornitza Stark gene: SLC9A1 was added
gene: SLC9A1 was added to Deafness. Sources: Expert list
Mode of inheritance for gene: SLC9A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC9A1 were set to 25205112; 30018422; 25760855
Phenotypes for gene: SLC9A1 were set to Lichtenstein-Knorr syndrome, MIM# 616291
Review for gene: SLC9A1 was set to AMBER
Added comment: Two families with bi-allelic variants in this gene reported and combination of deafness and ataxia.
Sources: Expert list
Ataxia v0.145 PNPLA6 Bryony Thompson Marked gene: PNPLA6 as ready
Ataxia v0.145 PNPLA6 Bryony Thompson Gene: pnpla6 has been classified as Green List (High Evidence).
Ataxia v0.145 PNPLA6 Bryony Thompson Classified gene: PNPLA6 as Green List (high evidence)
Ataxia v0.145 PNPLA6 Bryony Thompson Gene: pnpla6 has been classified as Green List (High Evidence).
Ataxia v0.144 PNPLA6 Bryony Thompson gene: PNPLA6 was added
gene: PNPLA6 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPLA6 were set to Boucher-Neuhauser syndrome MIM#215470; Laurence-Moon syndrome MIM#245800; Oliver-McFarlane syndrome MIM#275400; Spastic paraplegia 39, autosomal recessive MIM#612020
Review for gene: PNPLA6 was set to GREEN
Added comment: Variable age of onset for neurological features (including ataxia) from childhood to adulthood.
Sources: Expert list
Ataxia v0.143 MTPAP Bryony Thompson reviewed gene: MTPAP: Rating: AMBER; Mode of pathogenicity: None; Publications: 20970105, 26319014, 25008111; Phenotypes: Spastic ataxia 4, autosomal recessive MIM#613672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2301 SLC9A1 Zornitza Stark Marked gene: SLC9A1 as ready
Mendeliome v0.2301 SLC9A1 Zornitza Stark Gene: slc9a1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2301 SLC9A1 Zornitza Stark Classified gene: SLC9A1 as Amber List (moderate evidence)
Mendeliome v0.2301 SLC9A1 Zornitza Stark Gene: slc9a1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2300 SLC9A1 Zornitza Stark gene: SLC9A1 was added
gene: SLC9A1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SLC9A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC9A1 were set to 25205112; 30018422; 25760855
Phenotypes for gene: SLC9A1 were set to Lichtenstein-Knorr syndrome, MIM# 616291
Review for gene: SLC9A1 was set to AMBER
Added comment: Two families with bi-allelic variants in this gene reported and combination of deafness and ataxia.
Sources: Expert list
Ataxia v0.143 SLC9A1 Zornitza Stark Marked gene: SLC9A1 as ready
Ataxia v0.143 SLC9A1 Zornitza Stark Gene: slc9a1 has been classified as Amber List (Moderate Evidence).
Ataxia v0.143 SLC9A1 Zornitza Stark Phenotypes for gene: SLC9A1 were changed from Lichtenstein-Knorr Syndrome to Lichtenstein-Knorr Syndrome, MIM# 616291
Ataxia v0.142 SLC9A1 Zornitza Stark Publications for gene: SLC9A1 were set to
Ataxia v0.141 SLC9A1 Zornitza Stark Classified gene: SLC9A1 as Amber List (moderate evidence)
Ataxia v0.141 SLC9A1 Zornitza Stark Gene: slc9a1 has been classified as Amber List (Moderate Evidence).
Ataxia v0.140 SLC9A1 Zornitza Stark reviewed gene: SLC9A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25205112, 30018422, 25760855; Phenotypes: Lichtenstein-Knorr syndrome, MIM# 616291; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.140 SPR Zornitza Stark Marked gene: SPR as ready
Ataxia v0.140 SPR Zornitza Stark Gene: spr has been classified as Green List (High Evidence).
Ataxia v0.140 SPR Zornitza Stark reviewed gene: SPR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.140 SPTBN2 Zornitza Stark Marked gene: SPTBN2 as ready
Ataxia v0.140 SPTBN2 Zornitza Stark Gene: sptbn2 has been classified as Green List (High Evidence).
Ataxia v0.140 SPTBN2 Zornitza Stark Classified gene: SPTBN2 as Green List (high evidence)
Ataxia v0.140 SPTBN2 Zornitza Stark Gene: sptbn2 has been classified as Green List (High Evidence).
Ataxia v0.139 SPTBN2 Zornitza Stark gene: SPTBN2 was added
gene: SPTBN2 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: SPTBN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SPTBN2 were set to 23236289; 23838597; 22781464; 31617442; 31066025
Phenotypes for gene: SPTBN2 were set to Spinocerebellar ataxia, autosomal recessive 14, MIM# 615386; Spinocerebellar ataxia 5, MIM# 600224
Review for gene: SPTBN2 was set to GREEN
Added comment: Both mono-allelic and bi-allelic variants in this gene are associated with childhood-onset ataxia.
Sources: Expert list
Ataxia v0.138 SQSTM1 Zornitza Stark Marked gene: SQSTM1 as ready
Ataxia v0.138 SQSTM1 Zornitza Stark Gene: sqstm1 has been classified as Green List (High Evidence).
Mendeliome v0.2299 MTCL1 Bryony Thompson Marked gene: MTCL1 as ready
Mendeliome v0.2299 MTCL1 Bryony Thompson Gene: mtcl1 has been classified as Amber List (Moderate Evidence).
Ataxia v0.138 SQSTM1 Zornitza Stark Phenotypes for gene: SQSTM1 were changed from Neurodegeneration with ataxia, dystonia, and gaze palsy, 617145 to Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145
Ataxia v0.137 SQSTM1 Zornitza Stark Publications for gene: SQSTM1 were set to
Mendeliome v0.2299 MTCL1 Bryony Thompson Classified gene: MTCL1 as Amber List (moderate evidence)
Mendeliome v0.2299 MTCL1 Bryony Thompson Gene: mtcl1 has been classified as Amber List (Moderate Evidence).
Ataxia v0.136 SQSTM1 Zornitza Stark reviewed gene: SQSTM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27545679; Phenotypes: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2298 MTCL1 Bryony Thompson gene: MTCL1 was added
gene: MTCL1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MTCL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MTCL1 were set to 30548255; 28283581
Phenotypes for gene: MTCL1 were set to slowly progressive cerebellar ataxia; mild intellectual disability; seizures; episodic pain; spinocerebellar ataxia
Review for gene: MTCL1 was set to AMBER
Added comment: Single case with a homozygous loss of function variant in a Polish study of early-onset cerebellar ataxia, and a single family with a single heterozygous missense (p.Val1435Met) identified in two family members with adult-onset spinocerebellar ataxia. Mtcl1 gene disruption in mice results in abnormal motor coordination with Purkinje cell degeneration
Sources: Expert list
Ataxia v0.136 MTCL1 Bryony Thompson Mode of inheritance for gene: MTCL1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ataxia v0.135 MTCL1 Bryony Thompson Marked gene: MTCL1 as ready
Ataxia v0.135 MTCL1 Bryony Thompson Gene: mtcl1 has been classified as Amber List (Moderate Evidence).
Ataxia v0.135 MTCL1 Bryony Thompson Classified gene: MTCL1 as Amber List (moderate evidence)
Ataxia v0.135 MTCL1 Bryony Thompson Gene: mtcl1 has been classified as Amber List (Moderate Evidence).
Ataxia v0.134 MTCL1 Bryony Thompson reviewed gene: MTCL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 30548255, 28283581; Phenotypes: slowly progressive cerebellar ataxia, mild intellectual disability, seizures, episodic pain, spinocerebellar ataxia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ataxia v0.134 STUB1 Zornitza Stark Marked gene: STUB1 as ready
Ataxia v0.134 STUB1 Zornitza Stark Gene: stub1 has been classified as Green List (High Evidence).
Ataxia v0.134 STUB1 Zornitza Stark Classified gene: STUB1 as Green List (high evidence)
Ataxia v0.134 STUB1 Zornitza Stark Gene: stub1 has been classified as Green List (High Evidence).
Ataxia v0.133 STUB1 Zornitza Stark gene: STUB1 was added
gene: STUB1 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: STUB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STUB1 were set to 25258038; 24742043
Phenotypes for gene: STUB1 were set to Spinocerebellar ataxia, autosomal recessive 16, MIM# 615768
Review for gene: STUB1 was set to GREEN
Added comment: Onset is typically in adolescence but onset in childhood also reported.
Sources: Expert list
Ataxia v0.132 MSTO1 Bryony Thompson Marked gene: MSTO1 as ready
Ataxia v0.132 MSTO1 Bryony Thompson Gene: msto1 has been classified as Green List (High Evidence).
Ataxia v0.132 MSTO1 Bryony Thompson Classified gene: MSTO1 as Green List (high evidence)
Ataxia v0.132 MSTO1 Bryony Thompson Gene: msto1 has been classified as Green List (High Evidence).
Ataxia v0.131 MSTO1 Bryony Thompson gene: MSTO1 was added
gene: MSTO1 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: MSTO1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia MIM#617675
Review for gene: MSTO1 was set to GREEN
Added comment: Onset usually in early childhood.
Sources: Expert list
Ataxia v0.130 MARS2 Bryony Thompson Marked gene: MARS2 as ready
Ataxia v0.130 MARS2 Bryony Thompson Gene: mars2 has been classified as Green List (High Evidence).
Ataxia v0.130 MARS2 Bryony Thompson Classified gene: MARS2 as Green List (high evidence)
Ataxia v0.130 MARS2 Bryony Thompson Gene: mars2 has been classified as Green List (High Evidence).
Ataxia v0.129 MARS2 Bryony Thompson gene: MARS2 was added
gene: MARS2 was added to Ataxia - paediatric. Sources: Expert list
SV/CNV tags were added to gene: MARS2.
Mode of inheritance for gene: MARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MARS2 were set to Spastic ataxia 3, autosomal recessive MIM#611390
Review for gene: MARS2 was set to GREEN
Added comment: Variable age at onset (range 2 to 59 years, mean 24 years). Complex duplication rearrangements the only cause reported to date.
Sources: Expert list
Ataxia v0.128 SYNE1 Zornitza Stark Marked gene: SYNE1 as ready
Ataxia v0.128 SYNE1 Zornitza Stark Gene: syne1 has been classified as Green List (High Evidence).
Ataxia v0.128 SYNE1 Zornitza Stark Classified gene: SYNE1 as Green List (high evidence)
Ataxia v0.128 SYNE1 Zornitza Stark Gene: syne1 has been classified as Green List (High Evidence).
Ataxia v0.127 SYNE1 Zornitza Stark gene: SYNE1 was added
gene: SYNE1 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: SYNE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SYNE1 were set to 23325900; 27086870
Phenotypes for gene: SYNE1 were set to Spinocerebellar ataxia, autosomal recessive 8, MIM# 610743
Review for gene: SYNE1 was set to GREEN
Added comment: Typical onset is in adulthood, but childhood-onset cases reported. Intra-familial variability.
Sources: Expert list
Ataxia v0.126 KIF1C Bryony Thompson Marked gene: KIF1C as ready
Ataxia v0.126 KIF1C Bryony Thompson Gene: kif1c has been classified as Green List (High Evidence).
Ataxia v0.126 KIF1C Bryony Thompson Classified gene: KIF1C as Green List (high evidence)
Ataxia v0.126 KIF1C Bryony Thompson Gene: kif1c has been classified as Green List (High Evidence).
Ataxia v0.125 KIF1C Bryony Thompson gene: KIF1C was added
gene: KIF1C was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: KIF1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF1C were set to Spastic ataxia 2, autosomal recessive MIM#611302
Review for gene: KIF1C was set to GREEN
Added comment: Onset usually in adolescence.
Sources: Expert list
Ataxia v0.124 SYNGAP1 Zornitza Stark Marked gene: SYNGAP1 as ready
Ataxia v0.124 SYNGAP1 Zornitza Stark Gene: syngap1 has been classified as Amber List (Moderate Evidence).
Ataxia v0.124 SYNGAP1 Zornitza Stark Publications for gene: SYNGAP1 were set to
Ataxia v0.123 KCNC3 Bryony Thompson Marked gene: KCNC3 as ready
Ataxia v0.123 KCNC3 Bryony Thompson Gene: kcnc3 has been classified as Green List (High Evidence).
Ataxia v0.123 KCNC3 Bryony Thompson Classified gene: KCNC3 as Green List (high evidence)
Ataxia v0.123 KCNC3 Bryony Thompson Gene: kcnc3 has been classified as Green List (High Evidence).
Ataxia v0.122 KCNC3 Bryony Thompson gene: KCNC3 was added
gene: KCNC3 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: KCNC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNC3 were set to Spinocerebellar ataxia 13 MIM#605259
Review for gene: KCNC3 was set to GREEN
Added comment: Variable age at onset, ranging from childhood to late adulthood.
Sources: Expert list
Ataxia v0.121 SYNGAP1 Zornitza Stark Classified gene: SYNGAP1 as Amber List (moderate evidence)
Ataxia v0.121 SYNGAP1 Zornitza Stark Gene: syngap1 has been classified as Amber List (Moderate Evidence).
Ataxia v0.120 SYNGAP1 Zornitza Stark reviewed gene: SYNGAP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26989088; Phenotypes: Mental retardation, autosomal dominant 5, MIM# 612621; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia v0.120 ITPR1 Bryony Thompson Marked gene: ITPR1 as ready
Ataxia v0.120 ITPR1 Bryony Thompson Gene: itpr1 has been classified as Green List (High Evidence).
Ataxia v0.120 ITPR1 Bryony Thompson Classified gene: ITPR1 as Green List (high evidence)
Ataxia v0.120 ITPR1 Bryony Thompson Gene: itpr1 has been classified as Green List (High Evidence).
Ataxia v0.119 ITPR1 Bryony Thompson gene: ITPR1 was added
gene: ITPR1 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: ITPR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ITPR1 were set to Spinocerebellar ataxia 15 MIM#606658; Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360
Review for gene: ITPR1 was set to GREEN
Added comment: Wide range of onset from birth to adulthood.
Sources: Expert list
Ataxia v0.118 FXN Bryony Thompson Marked gene: FXN as ready
Ataxia v0.118 FXN Bryony Thompson Gene: fxn has been classified as Green List (High Evidence).
Ataxia v0.118 FXN Bryony Thompson Classified gene: FXN as Green List (high evidence)
Ataxia v0.118 FXN Bryony Thompson Gene: fxn has been classified as Green List (High Evidence).
Ataxia v0.117 FXN Bryony Thompson gene: FXN was added
gene: FXN was added to Ataxia - paediatric. Sources: Expert list
STR tags were added to gene: FXN.
Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FXN were set to Friedreich ataxia MIM#229300
Review for gene: FXN was set to GREEN
Added comment: Onset usually before adolescence. Most common genetic abnormality is the trinucleotide repeat expansion, but also SNVs and indels reported.
Sources: Expert list
Cerebellar and Pontocerebellar Hypoplasia v0.32 TBC1D23 Zornitza Stark Marked gene: TBC1D23 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.32 TBC1D23 Zornitza Stark Gene: tbc1d23 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.32 TBC1D23 Zornitza Stark Phenotypes for gene: TBC1D23 were changed from to Pontocerebellar hypoplasia, type 11, MIM# 617695
Cerebellar and Pontocerebellar Hypoplasia v0.31 TBC1D23 Zornitza Stark Publications for gene: TBC1D23 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.30 TBC1D23 Zornitza Stark Mode of inheritance for gene: TBC1D23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.29 TBC1D23 Zornitza Stark reviewed gene: TBC1D23: Rating: GREEN; Mode of pathogenicity: None; Publications: 28823707, 28823706; Phenotypes: Pontocerebellar hypoplasia, type 11, MIM# 617695; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.116 TBC1D23 Zornitza Stark Publications for gene: TBC1D23 were set to
Ataxia v0.115 TBC1D23 Zornitza Stark reviewed gene: TBC1D23: Rating: GREEN; Mode of pathogenicity: None; Publications: 28823707, 28823706; Phenotypes: Pontocerebellar hypoplasia, type 11, MIM# 617695; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.115 TCTN1 Zornitza Stark changed review comment from: Rare cause of JBS, ataxia not specifically mentioned.; to: Rare cause of JBS, ataxia specifically mentioned in at least one individual.
Ataxia v0.115 TCTN1 Zornitza Stark edited their review of gene: TCTN1: Changed rating: GREEN
Ataxia v0.115 TCTN1 Zornitza Stark Classified gene: TCTN1 as Green List (high evidence)
Ataxia v0.115 TCTN1 Zornitza Stark Gene: tctn1 has been classified as Green List (High Evidence).
Ataxia v0.114 FLVCR1 Bryony Thompson Marked gene: FLVCR1 as ready
Ataxia v0.114 FLVCR1 Bryony Thompson Gene: flvcr1 has been classified as Green List (High Evidence).
Ataxia v0.114 FLVCR1 Bryony Thompson Classified gene: FLVCR1 as Green List (high evidence)
Ataxia v0.114 FLVCR1 Bryony Thompson Gene: flvcr1 has been classified as Green List (High Evidence).
Ataxia v0.113 FLVCR1 Bryony Thompson gene: FLVCR1 was added
gene: FLVCR1 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLVCR1 were set to Ataxia, posterior column, with retinitis pigmentosa MIM#609033
Review for gene: FLVCR1 was set to GREEN
Added comment: Onset usually in childhood.
Sources: Expert list
Ataxia v0.112 FGF14 Bryony Thompson Marked gene: FGF14 as ready
Ataxia v0.112 FGF14 Bryony Thompson Gene: fgf14 has been classified as Green List (High Evidence).
Ataxia v0.112 FGF14 Bryony Thompson Classified gene: FGF14 as Green List (high evidence)
Ataxia v0.112 FGF14 Bryony Thompson Gene: fgf14 has been classified as Green List (High Evidence).
Ataxia v0.111 FGF14 Bryony Thompson gene: FGF14 was added
gene: FGF14 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: FGF14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGF14 were set to Spinocerebellar ataxia 27 MIM#609307
Review for gene: FGF14 was set to GREEN
Added comment: Onset in late-childhood to early adulthood (12 to 20 years).
Sources: Expert list
Ataxia v0.110 TCTN1 Zornitza Stark Phenotypes for gene: TCTN1 were changed from Joubert syndrome 13 to Joubert syndrome 13, MIM# 614173
Ataxia v0.109 TCTN1 Zornitza Stark Publications for gene: TCTN1 were set to 31302911; 28631893; 21725307; 26477546
Ataxia v0.108 TCTN1 Zornitza Stark Publications for gene: TCTN1 were set to
Ataxia v0.107 TCTN1 Zornitza Stark Classified gene: TCTN1 as Amber List (moderate evidence)
Ataxia v0.107 TCTN1 Zornitza Stark Gene: tctn1 has been classified as Amber List (Moderate Evidence).
Ataxia v0.106 TCTN1 Zornitza Stark reviewed gene: TCTN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31302911, 28631893, 21725307, 26477546; Phenotypes: Joubert syndrome 13, MIM# 614173; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.106 EIF2B5 Bryony Thompson Marked gene: EIF2B5 as ready
Ataxia v0.106 EIF2B5 Bryony Thompson Gene: eif2b5 has been classified as Green List (High Evidence).
Ataxia v0.106 EIF2B5 Bryony Thompson Classified gene: EIF2B5 as Green List (high evidence)
Ataxia v0.106 EIF2B5 Bryony Thompson Gene: eif2b5 has been classified as Green List (High Evidence).
Ataxia v0.105 EIF2B5 Bryony Thompson gene: EIF2B5 was added
gene: EIF2B5 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B5 were set to Leukoencephalopathy with vanishing white matter MIM#603896
Review for gene: EIF2B5 was set to GREEN
Added comment: Ataxia is a prominent feature of the condition and onset usually in late infancy or childhood (1 to 6 years).
Sources: Expert list
Ataxia v0.104 EIF2B4 Bryony Thompson Marked gene: EIF2B4 as ready
Ataxia v0.104 EIF2B4 Bryony Thompson Gene: eif2b4 has been classified as Green List (High Evidence).
Ataxia v0.104 EIF2B4 Bryony Thompson Classified gene: EIF2B4 as Green List (high evidence)
Ataxia v0.104 EIF2B4 Bryony Thompson Gene: eif2b4 has been classified as Green List (High Evidence).
Ataxia v0.103 EIF2B4 Bryony Thompson gene: EIF2B4 was added
gene: EIF2B4 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: EIF2B4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B4 were set to Leukoencephalopathy with vanishing white matter MIM#603896
Review for gene: EIF2B4 was set to GREEN
Added comment: Ataxia is a prominent feature of the condition and onset usually in late infancy or childhood (1 to 6 years).
Sources: Expert list
Ataxia v0.102 TCTN2 Zornitza Stark Marked gene: TCTN2 as ready
Ataxia v0.102 TCTN2 Zornitza Stark Gene: tctn2 has been classified as Green List (High Evidence).
Ataxia v0.102 TCTN2 Zornitza Stark Phenotypes for gene: TCTN2 were changed from Joubert syndrome 24 to Joubert syndrome 24, MIM# 616654
Ataxia v0.101 TCTN2 Zornitza Stark Publications for gene: TCTN2 were set to
Ataxia v0.100 TCTN2 Zornitza Stark reviewed gene: TCTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25118024, 21565611; Phenotypes: Joubert syndrome 24, MIM# 616654; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.100 EIF2B3 Bryony Thompson Marked gene: EIF2B3 as ready
Ataxia v0.100 EIF2B3 Bryony Thompson Gene: eif2b3 has been classified as Green List (High Evidence).
Ataxia v0.100 EIF2B3 Bryony Thompson Classified gene: EIF2B3 as Green List (high evidence)
Ataxia v0.100 EIF2B3 Bryony Thompson Gene: eif2b3 has been classified as Green List (High Evidence).
Ataxia v0.99 EIF2B3 Bryony Thompson gene: EIF2B3 was added
gene: EIF2B3 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: EIF2B3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B3 were set to Leukoencephalopathy with vanishing white matter MIM#603896
Review for gene: EIF2B3 was set to GREEN
Added comment: Ataxia is a prominent feature of the condition and onset usually in late infancy or childhood (1 to 6 years).
Sources: Expert list
Ataxia v0.98 EIF2B2 Bryony Thompson Marked gene: EIF2B2 as ready
Ataxia v0.98 EIF2B2 Bryony Thompson Gene: eif2b2 has been classified as Green List (High Evidence).
Ataxia v0.98 EIF2B2 Bryony Thompson Classified gene: EIF2B2 as Green List (high evidence)
Ataxia v0.98 EIF2B2 Bryony Thompson Gene: eif2b2 has been classified as Green List (High Evidence).
Ataxia v0.97 EIF2B2 Bryony Thompson gene: EIF2B2 was added
gene: EIF2B2 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B2 were set to Leukoencephalopathy with vanishing white matter MIM#603896
Review for gene: EIF2B2 was set to GREEN
Added comment: Ataxia is a prominent feature of the condition and onset usually in late infancy or childhood (1 to 6 years).
Sources: Expert list
Ataxia v0.96 EIF2B1 Bryony Thompson Marked gene: EIF2B1 as ready
Ataxia v0.96 EIF2B1 Bryony Thompson Gene: eif2b1 has been classified as Green List (High Evidence).
Ataxia v0.96 EIF2B1 Bryony Thompson Classified gene: EIF2B1 as Green List (high evidence)
Ataxia v0.96 EIF2B1 Bryony Thompson Gene: eif2b1 has been classified as Green List (High Evidence).
Ataxia v0.95 EIF2B1 Bryony Thompson gene: EIF2B1 was added
gene: EIF2B1 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: EIF2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B1 were set to Leukoencephalopathy with vanishing white matter MIM#603896
Review for gene: EIF2B1 was set to GREEN
Added comment: Ataxia is a prominent feature of the condition and onset usually in late infancy or childhood (1 to 6 years).
Sources: Expert list
Ataxia v0.94 COA7 Bryony Thompson Marked gene: COA7 as ready
Ataxia v0.94 COA7 Bryony Thompson Gene: coa7 has been classified as Green List (High Evidence).
Ataxia v0.94 COA7 Bryony Thompson Classified gene: COA7 as Green List (high evidence)
Ataxia v0.94 COA7 Bryony Thompson Gene: coa7 has been classified as Green List (High Evidence).
Ataxia v0.93 COA7 Bryony Thompson gene: COA7 was added
gene: COA7 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COA7 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MIM#618387
Review for gene: COA7 was set to GREEN
Added comment: Onset usually in the first decade.
Sources: Expert list
Ataxia v0.92 CACNA1G Bryony Thompson Marked gene: CACNA1G as ready
Ataxia v0.92 CACNA1G Bryony Thompson Gene: cacna1g has been classified as Green List (High Evidence).
Ataxia v0.92 CACNA1G Bryony Thompson Classified gene: CACNA1G as Green List (high evidence)
Ataxia v0.92 CACNA1G Bryony Thompson Gene: cacna1g has been classified as Green List (High Evidence).
Ataxia v0.91 CACNA1G Bryony Thompson gene: CACNA1G was added
gene: CACNA1G was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: CACNA1G was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CACNA1G were set to Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits MIM#618087
Review for gene: CACNA1G was set to GREEN
Added comment: Onset of ataxia is soon after birth or in early infancy.
Sources: Expert list
Ataxia v0.90 CACNA1A Bryony Thompson Marked gene: CACNA1A as ready
Ataxia v0.90 CACNA1A Bryony Thompson Gene: cacna1a has been classified as Green List (High Evidence).
Ataxia v0.90 CACNA1A Bryony Thompson Classified gene: CACNA1A as Green List (high evidence)
Ataxia v0.90 CACNA1A Bryony Thompson Gene: cacna1a has been classified as Green List (High Evidence).
Ataxia v0.89 CACNA1A Bryony Thompson gene: CACNA1A was added
gene: CACNA1A was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CACNA1A were set to Episodic ataxia, type 2 MIM#108500
Review for gene: CACNA1A was set to GREEN
Added comment: Onset of episodic ataxia usually in childhood or adolescence.
Sources: Expert list
Ataxia v0.88 TCTN3 Zornitza Stark Marked gene: TCTN3 as ready
Ataxia v0.88 TCTN3 Zornitza Stark Gene: tctn3 has been classified as Green List (High Evidence).
Ataxia v0.88 ATP1A3 Bryony Thompson Marked gene: ATP1A3 as ready
Ataxia v0.88 ATP1A3 Bryony Thompson Gene: atp1a3 has been classified as Green List (High Evidence).
Ataxia v0.88 TCTN3 Zornitza Stark Phenotypes for gene: TCTN3 were changed from Joubert syndrome 18 to Joubert syndrome 18, MIM# 614815; Orofaciodigital syndrome IV, MIM# 258860
Ataxia v0.87 ATP1A3 Bryony Thompson Classified gene: ATP1A3 as Green List (high evidence)
Ataxia v0.87 ATP1A3 Bryony Thompson Gene: atp1a3 has been classified as Green List (High Evidence).
Ataxia v0.86 TCTN3 Zornitza Stark Publications for gene: TCTN3 were set to
Ataxia v0.85 TCTN3 Zornitza Stark reviewed gene: TCTN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22883145, 25118024; Phenotypes: Joubert syndrome 18, MIM# 614815, Orofaciodigital syndrome IV, MIM# 258860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.85 ATP1A3 Bryony Thompson gene: ATP1A3 was added
gene: ATP1A3 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATP1A3 were set to Alternating hemiplegia of childhood 2 MIM#614820; CAPOS syndrome MIM#601338
Review for gene: ATP1A3 was set to GREEN
Added comment: Onset of ataxia is usually in infancy or childhood.
Sources: Expert list
Mendeliome v0.2297 ATG5 Bryony Thompson Classified gene: ATG5 as Amber List (moderate evidence)
Mendeliome v0.2297 ATG5 Bryony Thompson Gene: atg5 has been classified as Amber List (Moderate Evidence).
Ataxia v0.84 ATG5 Bryony Thompson Publications for gene: ATG5 were set to 26812546
Mendeliome v0.2296 ATG5 Bryony Thompson gene: ATG5 was added
gene: ATG5 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ATG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATG5 were set to 16625204; 26812546
Phenotypes for gene: ATG5 were set to Spinocerebellar ataxia, autosomal recessive 25 MIM#617584
Review for gene: ATG5 was set to AMBER
Added comment: A homozgyous variant was identified in a single family with two affected siblings. Mice deficient for Atg5 specifically in neural cells and Atg5 null Drosophila develop progressive deficits in motor function.
Sources: Expert list
Ataxia v0.83 ATG5 Bryony Thompson Marked gene: ATG5 as ready
Ataxia v0.83 ATG5 Bryony Thompson Gene: atg5 has been classified as Amber List (Moderate Evidence).
Ataxia v0.83 ATG5 Bryony Thompson Classified gene: ATG5 as Amber List (moderate evidence)
Ataxia v0.83 ATG5 Bryony Thompson Gene: atg5 has been classified as Amber List (Moderate Evidence).
Ataxia v0.82 ATG5 Bryony Thompson reviewed gene: ATG5: Rating: AMBER; Mode of pathogenicity: None; Publications: 16625204, 26812546; Phenotypes: Spinocerebellar ataxia, autosomal recessive 25 MIM#617584; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.82 ATM Bryony Thompson Marked gene: ATM as ready
Ataxia v0.82 ATM Bryony Thompson Gene: atm has been classified as Green List (High Evidence).
Ataxia v0.82 ATM Bryony Thompson Classified gene: ATM as Green List (high evidence)
Ataxia v0.82 ATM Bryony Thompson Gene: atm has been classified as Green List (High Evidence).
Ataxia v0.81 ATM Bryony Thompson gene: ATM was added
gene: ATM was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATM were set to Ataxia-telangiectasia MIM#208900
Review for gene: ATM was set to GREEN
Added comment: Onset of ataxia is usually in childhood.
Sources: Expert list
Ataxia v0.80 ANO10 Bryony Thompson Classified gene: ANO10 as Green List (high evidence)
Ataxia v0.80 ANO10 Bryony Thompson Gene: ano10 has been classified as Green List (High Evidence).
Ataxia v0.79 ANO10 Bryony Thompson gene: ANO10 was added
gene: ANO10 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: ANO10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANO10 were set to Spinocerebellar ataxia, autosomal recessive 10 MIM#613728
Review for gene: ANO10 was set to GREEN
Added comment: Onset of ataxia is in adolescence or adulthood.
Sources: Expert list
Ataxia v0.78 AFG3L2 Bryony Thompson Marked gene: AFG3L2 as ready
Ataxia v0.78 AFG3L2 Bryony Thompson Gene: afg3l2 has been classified as Green List (High Evidence).
Ataxia v0.78 AFG3L2 Bryony Thompson Classified gene: AFG3L2 as Green List (high evidence)
Ataxia v0.78 AFG3L2 Bryony Thompson Gene: afg3l2 has been classified as Green List (High Evidence).
Mendeliome v0.2295 IL18BP Zornitza Stark gene: IL18BP was added
gene: IL18BP was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: IL18BP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL18BP were set to 31213488
Phenotypes for gene: IL18BP were set to {?Hepatitis, fulminant viral, susceptibility to} 618549
Review for gene: IL18BP was set to RED
Added comment: Single individual reported with homozygous 40bp deletion in this gene and fulminant Hep A hepatitis.
Sources: Expert list
Susceptibility to Viral Infections v0.35 IL18BP Zornitza Stark gene: IL18BP was added
gene: IL18BP was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: IL18BP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL18BP were set to 31213488
Phenotypes for gene: IL18BP were set to {?Hepatitis, fulminant viral, susceptibility to} 618549
Review for gene: IL18BP was set to RED
Added comment: Single individual reported with homozygous 40bp deletion in this gene and fulminant Hep A hepatitis.
Sources: Expert list
Mendeliome v0.2294 IRF4 Zornitza Stark Phenotypes for gene: IRF4 were changed from to Whipple's disease; [Skin/hair/eye pigmentation, variation in, 8] 611724
Mendeliome v0.2293 IRF4 Zornitza Stark Publications for gene: IRF4 were set to
Mendeliome v0.2292 IRF4 Zornitza Stark Mode of inheritance for gene: IRF4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2291 IRF4 Zornitza Stark Classified gene: IRF4 as Red List (low evidence)
Mendeliome v0.2291 IRF4 Zornitza Stark Gene: irf4 has been classified as Red List (Low Evidence).
Mendeliome v0.2290 IRF4 Zornitza Stark reviewed gene: IRF4: Rating: RED; Mode of pathogenicity: None; Publications: 29537367; Phenotypes: Whipple's disease, [Skin/hair/eye pigmentation, variation in, 8] 611724; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia v0.77 THG1L Zornitza Stark Marked gene: THG1L as ready
Ataxia v0.77 THG1L Zornitza Stark Gene: thg1l has been classified as Green List (High Evidence).
Ataxia v0.77 THG1L Zornitza Stark Publications for gene: THG1L were set to
Ataxia v0.76 THG1L Zornitza Stark reviewed gene: THG1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 27307223, 30214071, 31168944; Phenotypes: Cerebellar ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.76 TINF2 Zornitza Stark Marked gene: TINF2 as ready
Ataxia v0.76 TINF2 Zornitza Stark Gene: tinf2 has been classified as Green List (High Evidence).
Ataxia v0.76 TINF2 Zornitza Stark Publications for gene: TINF2 were set to
Ataxia v0.75 TINF2 Zornitza Stark reviewed gene: TINF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18252230, 21477109, 18979121; Phenotypes: Revesz syndrome, MIM# 268130; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia v0.75 TMEM106B Zornitza Stark edited their review of gene: TMEM106B: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia v0.75 TMEM106B Zornitza Stark Marked gene: TMEM106B as ready
Ataxia v0.75 TMEM106B Zornitza Stark Gene: tmem106b has been classified as Green List (High Evidence).
Ataxia v0.75 TMEM106B Zornitza Stark Publications for gene: TMEM106B were set to
Ataxia v0.74 TMEM106B Zornitza Stark reviewed gene: TMEM106B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29186371, 29444210; Phenotypes: Leukodystrophy, hypomyelinating, 16, MIM# 617964; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.74 TMEM138 Zornitza Stark Marked gene: TMEM138 as ready
Ataxia v0.74 TMEM138 Zornitza Stark Gene: tmem138 has been classified as Amber List (Moderate Evidence).
Ataxia v0.74 TMEM138 Zornitza Stark Phenotypes for gene: TMEM138 were changed from Joubert syndrome 16 to Joubert syndrome 16, MIM# 614465
Ataxia v0.73 TMEM138 Zornitza Stark Classified gene: TMEM138 as Amber List (moderate evidence)
Ataxia v0.73 TMEM138 Zornitza Stark Gene: tmem138 has been classified as Amber List (Moderate Evidence).
Ataxia v0.72 TMEM138 Zornitza Stark reviewed gene: TMEM138: Rating: AMBER; Mode of pathogenicity: None; Publications: 22282472; Phenotypes: Joubert syndrome 16, MIM# 614465; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.72 TMEM216 Zornitza Stark Marked gene: TMEM216 as ready
Ataxia v0.72 TMEM216 Zornitza Stark Gene: tmem216 has been classified as Green List (High Evidence).
Ataxia v0.72 TMEM216 Zornitza Stark Phenotypes for gene: TMEM216 were changed from Joubert syndrome 2 to Joubert syndrome 2, MIM# 608091
Ataxia v0.71 TMEM216 Zornitza Stark Publications for gene: TMEM216 were set to
Ataxia v0.70 TMEM216 Zornitza Stark reviewed gene: TMEM216: Rating: GREEN; Mode of pathogenicity: None; Publications: 20036350, 20512146; Phenotypes: Joubert syndrome 2, MIM# 608091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.70 TMEM231 Zornitza Stark Marked gene: TMEM231 as ready
Ataxia v0.70 TMEM231 Zornitza Stark Gene: tmem231 has been classified as Amber List (Moderate Evidence).
Ataxia v0.70 TMEM231 Zornitza Stark Phenotypes for gene: TMEM231 were changed from Joubert syndrome 20 to Joubert syndrome 20, MIM# 614970; Meckel syndrome 11 615397
Ataxia v0.69 TMEM231 Zornitza Stark Classified gene: TMEM231 as Amber List (moderate evidence)
Ataxia v0.69 TMEM231 Zornitza Stark Gene: tmem231 has been classified as Amber List (Moderate Evidence).
Ataxia v0.68 TMEM231 Zornitza Stark reviewed gene: TMEM231: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 20, MIM# 614970, Meckel syndrome 11 615397; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.68 TMEM237 Zornitza Stark Marked gene: TMEM237 as ready
Ataxia v0.68 TMEM237 Zornitza Stark Gene: tmem237 has been classified as Green List (High Evidence).
Ataxia v0.68 TMEM237 Zornitza Stark Phenotypes for gene: TMEM237 were changed from Joubert syndrome 14 to Joubert syndrome 14, MIM# 614424
Ataxia v0.67 TMEM237 Zornitza Stark reviewed gene: TMEM237: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 14, MIM# 614424; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.67 TMEM240 Zornitza Stark Marked gene: TMEM240 as ready
Ataxia v0.67 TMEM240 Zornitza Stark Gene: tmem240 has been classified as Green List (High Evidence).
Ataxia v0.67 TMEM240 Zornitza Stark Classified gene: TMEM240 as Green List (high evidence)
Ataxia v0.67 TMEM240 Zornitza Stark Gene: tmem240 has been classified as Green List (High Evidence).
Ataxia v0.66 TMEM240 Zornitza Stark gene: TMEM240 was added
gene: TMEM240 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: TMEM240 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TMEM240 were set to 25070513
Phenotypes for gene: TMEM240 were set to Spinocerebellar ataxia 21, MIM# 607454
Review for gene: TMEM240 was set to GREEN
Added comment: At least 8 unrelated families reported. Onset in the first decades of life, including in childhood, of slowly progressive cerebellar ataxia, which is associated with cognitive impairment in most patients
Sources: Expert list
Ataxia v0.65 TMEM67 Zornitza Stark Marked gene: TMEM67 as ready
Ataxia v0.65 TMEM67 Zornitza Stark Gene: tmem67 has been classified as Green List (High Evidence).
Ataxia v0.65 TMEM67 Zornitza Stark Phenotypes for gene: TMEM67 were changed from Joubert syndrome 6 to Joubert syndrome 6, MIM# 610688
Ataxia v0.64 TMEM67 Zornitza Stark reviewed gene: TMEM67: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 6, MIM# 610688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.64 TSFM Zornitza Stark Marked gene: TSFM as ready
Ataxia v0.64 TSFM Zornitza Stark Gene: tsfm has been classified as Green List (High Evidence).
Ataxia v0.64 TSFM Zornitza Stark reviewed gene: TSFM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 3, MIM# 610505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.64 AFG3L2 Bryony Thompson gene: AFG3L2 was added
gene: AFG3L2 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: AFG3L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: AFG3L2 were set to 20725928
Phenotypes for gene: AFG3L2 were set to Spastic ataxia 5, autosomal recessive MIM#614487; Spinocerebellar ataxia 28 MIM#610246
Review for gene: AFG3L2 was set to GREEN
Added comment: The onset of the recessive form of ataxia is usually in infancy or childhood. The dominantly inherited form of ataxia is mostly adult onset, but onset in childhood has been reported.
Sources: Expert list
Ataxia v0.63 TTPA Zornitza Stark Marked gene: TTPA as ready
Ataxia v0.63 TTPA Zornitza Stark Gene: ttpa has been classified as Green List (High Evidence).
Ataxia v0.63 TTPA Zornitza Stark Classified gene: TTPA as Green List (high evidence)
Ataxia v0.63 TTPA Zornitza Stark Gene: ttpa has been classified as Green List (High Evidence).
Ataxia v0.62 TTPA Zornitza Stark gene: TTPA was added
gene: TTPA was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTPA were set to Ataxia with isolated vitamin E deficiency, MIM# 277460
Review for gene: TTPA was set to GREEN
Added comment: Ataxia secondary to vitamin E deficiency. Variable age of onset, but paediatric cases reported.
Sources: Expert list
Ataxia v0.61 UBA5 Zornitza Stark Marked gene: UBA5 as ready
Ataxia v0.61 UBA5 Zornitza Stark Gene: uba5 has been classified as Amber List (Moderate Evidence).
Ataxia v0.61 UBA5 Zornitza Stark Classified gene: UBA5 as Amber List (moderate evidence)
Ataxia v0.61 UBA5 Zornitza Stark Gene: uba5 has been classified as Amber List (Moderate Evidence).
Ataxia v0.60 UBA5 Zornitza Stark reviewed gene: UBA5: Rating: AMBER; Mode of pathogenicity: None; Publications: 26872069, 27545681, 27545674; Phenotypes: Spinocerebellar ataxia, autosomal recessive 24, MIM# 617133, Epileptic encephalopathy, early infantile, 44 617132; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.60 VPS13D Zornitza Stark Marked gene: VPS13D as ready
Ataxia v0.60 VPS13D Zornitza Stark Gene: vps13d has been classified as Green List (High Evidence).
Ataxia v0.60 VPS13D Zornitza Stark Classified gene: VPS13D as Green List (high evidence)
Ataxia v0.60 VPS13D Zornitza Stark Gene: vps13d has been classified as Green List (High Evidence).
Ataxia v0.59 VPS13D Zornitza Stark gene: VPS13D was added
gene: VPS13D was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: VPS13D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS13D were set to 29604224; 29518281
Phenotypes for gene: VPS13D were set to Spinocerebellar ataxia, autosomal recessive 4, MIM# 607317
Review for gene: VPS13D was set to GREEN
Added comment: Seven unrelated families reported, some functional data. Age at onset is highly variable: some have onset in early childhood with delayed walking, whereas others have onset of gait difficulties in adulthood. Additional features may include dysarthria, oculomotor abnormalities, distal sensory impairment, dystonia, chorea, hypotonia, pyramidal signs, and cerebellar atrophy on brain imaging. The disorder is slowly progressive. Some individuals with onset in childhood may have global developmental delay with mild intellectual disability.
Sources: Expert list
Ataxia v0.58 VRK1 Zornitza Stark Marked gene: VRK1 as ready
Ataxia v0.58 VRK1 Zornitza Stark Gene: vrk1 has been classified as Amber List (Moderate Evidence).
Ataxia v0.58 VRK1 Zornitza Stark Publications for gene: VRK1 were set to
Ataxia v0.57 VRK1 Zornitza Stark Classified gene: VRK1 as Amber List (moderate evidence)
Ataxia v0.57 VRK1 Zornitza Stark Gene: vrk1 has been classified as Amber List (Moderate Evidence).
Ataxia v0.56 VRK1 Zornitza Stark reviewed gene: VRK1: Rating: AMBER; Mode of pathogenicity: None; Publications: 19646678, 21937992, 25609612, 24126608, 27281532; Phenotypes: Pontocerebellar hypoplasia type 1A, MIM# 607596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.56 ABHD12 Bryony Thompson Classified gene: ABHD12 as Green List (high evidence)
Ataxia v0.56 ABHD12 Bryony Thompson Gene: abhd12 has been classified as Green List (High Evidence).
Ataxia v0.55 ABHD12 Bryony Thompson gene: ABHD12 was added
gene: ABHD12 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABHD12 were set to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674
Review for gene: ABHD12 was set to GREEN
Added comment: Ataxia is a prominent feature of the condition and onset is usually in childhood or adolescence.
Sources: Expert list
Ataxia v0.54 AAAS Bryony Thompson Classified gene: AAAS as Green List (high evidence)
Ataxia v0.54 AAAS Bryony Thompson Gene: aaas has been classified as Green List (High Evidence).
Ataxia v0.53 AAAS Bryony Thompson gene: AAAS was added
gene: AAAS was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AAAS were set to Achalasia-addisonianism-alacrimia syndrome MIM#231550
Review for gene: AAAS was set to GREEN
Added comment: Ataxia is a feature of the condition and onset is usually in childhood.
Sources: Expert list
Familial hypercholesterolaemia v0.8 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Optic Atrophy v0.99 MFN2 Zornitza Stark Marked gene: MFN2 as ready
Optic Atrophy v0.99 MFN2 Zornitza Stark Gene: mfn2 has been classified as Green List (High Evidence).
Optic Atrophy v0.99 MFN2 Zornitza Stark Marked gene: MFN2 as ready
Optic Atrophy v0.99 MFN2 Zornitza Stark Gene: mfn2 has been classified as Green List (High Evidence).
Optic Atrophy v0.99 MFN2 Zornitza Stark Phenotypes for gene: MFN2 were changed from to Charcot-Marie-Tooth disease, axonal, type 2A2A, MIM# 609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 61708, Hereditary motor and sensory neuropathy VIA, MIM# 601152
Optic Atrophy v0.98 MFN2 Zornitza Stark Mode of inheritance for gene: MFN2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic Atrophy v0.97 MFN2 Zornitza Stark reviewed gene: MFN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2A2A, MIM# 609260, Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 61708, Hereditary motor and sensory neuropathy VIA, MIM# 601152; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic Atrophy v0.97 ACO2 Zornitza Stark Marked gene: ACO2 as ready
Optic Atrophy v0.97 ACO2 Zornitza Stark Gene: aco2 has been classified as Green List (High Evidence).
Optic Atrophy v0.97 ACO2 Zornitza Stark Phenotypes for gene: ACO2 were changed from to Optic atrophy 9, MIM# 616289; Infantile cerebellar-retinal degeneration, MIM# 614559
Optic Atrophy v0.96 ACO2 Zornitza Stark Publications for gene: ACO2 were set to
Optic Atrophy v0.95 ACO2 Zornitza Stark Mode of inheritance for gene: ACO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.94 ACO2 Zornitza Stark reviewed gene: ACO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25351951, 22405087; Phenotypes: Optic atrophy 9, MIM# 616289, Infantile cerebellar-retinal degeneration, MIM# 614559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.94 WFS1 Zornitza Stark Phenotypes for gene: WFS1 were changed from Wolfram syndrome 1, autosomal recessive, MIM# 222300; Wolfram-like syndrome, autosomal dominant 61, MIM#Wolfram syndrome 1, autosomal recessive, MIM# 222300; Wolfram-like syndrome, autosomal dominant, MIM#614296 to Wolfram syndrome 1, autosomal recessive, MIM# 222300; Wolfram-like syndrome, autosomal dominant, MIM#614296
Optic Atrophy v0.93 WFS1 Zornitza Stark Marked gene: WFS1 as ready
Optic Atrophy v0.93 WFS1 Zornitza Stark Gene: wfs1 has been classified as Green List (High Evidence).
Optic Atrophy v0.93 WFS1 Zornitza Stark Phenotypes for gene: WFS1 were changed from to Wolfram syndrome 1, autosomal recessive, MIM# 222300; Wolfram-like syndrome, autosomal dominant 61, MIM#Wolfram syndrome 1, autosomal recessive, MIM# 222300; Wolfram-like syndrome, autosomal dominant, MIM#614296
Optic Atrophy v0.92 WFS1 Zornitza Stark Mode of inheritance for gene: WFS1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic Atrophy v0.91 WFS1 Zornitza Stark reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wolfram syndrome 1, autosomal recessive, MIM# 222300, Wolfram-like syndrome, autosomal dominant 61, MIM#4296; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic Atrophy v0.91 SSBP1 Zornitza Stark Marked gene: SSBP1 as ready
Optic Atrophy v0.91 SSBP1 Zornitza Stark Gene: ssbp1 has been classified as Green List (High Evidence).
Optic Atrophy v0.91 TBCD Zornitza Stark Marked gene: TBCD as ready
Optic Atrophy v0.91 TBCD Zornitza Stark Gene: tbcd has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.91 TBCD Zornitza Stark Phenotypes for gene: TBCD were changed from to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193
Optic Atrophy v0.90 TBCD Zornitza Stark Publications for gene: TBCD were set to
Optic Atrophy v0.89 TBCD Zornitza Stark Mode of inheritance for gene: TBCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.88 TBCD Zornitza Stark Classified gene: TBCD as Amber List (moderate evidence)
Optic Atrophy v0.88 TBCD Zornitza Stark Gene: tbcd has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.87 TBCD Zornitza Stark changed review comment from: 15 children from 9 unrelated families with bi-allelic variants in this gene and a progressive neurodegenerative encephalopathy.
Sources: Expert Review; to: 15 children from 9 unrelated families with bi-allelic variants in this gene and a progressive neurodegenerative encephalopathy. Optic atrophy is not a consistent or prominent feature of this disorder.
Sources: Expert Review
Optic Atrophy v0.87 TBCD Zornitza Stark edited their review of gene: TBCD: Changed rating: AMBER
Cerebellar and Pontocerebellar Hypoplasia v0.29 AUTS2 Zornitza Stark Marked gene: AUTS2 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.29 AUTS2 Zornitza Stark Gene: auts2 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.29 WDR37 Zornitza Stark Marked gene: WDR37 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.29 WDR37 Zornitza Stark Gene: wdr37 has been classified as Green List (High Evidence).
Optic Atrophy v0.87 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Cerebellar and Pontocerebellar Hypoplasia v0.29 ADGRG1 Zornitza Stark Marked gene: ADGRG1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.29 ADGRG1 Zornitza Stark Gene: adgrg1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.29 ADGRG1 Zornitza Stark Classified gene: ADGRG1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.29 ADGRG1 Zornitza Stark Gene: adgrg1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.28 AUTS2 Zornitza Stark Phenotypes for gene: AUTS2 were changed from Mental retardation, autosomal dominant 26, MIM# 615834 to Mental retardation, autosomal dominant 26, MIM# 615834
Cerebellar and Pontocerebellar Hypoplasia v0.28 WDR81 Zornitza Stark Marked gene: WDR81 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.28 WDR81 Zornitza Stark Gene: wdr81 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.28 WDR81 Zornitza Stark Classified gene: WDR81 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.28 WDR81 Zornitza Stark Gene: wdr81 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.27 WDR37 Zornitza Stark Phenotypes for gene: WDR37 were changed from to Neurooculocardiogenitourinary syndrome (MIM#618652)
Cerebellar and Pontocerebellar Hypoplasia v0.27 AUTS2 Zornitza Stark Phenotypes for gene: AUTS2 were changed from to Mental retardation, autosomal dominant 26, MIM# 615834
Cerebellar and Pontocerebellar Hypoplasia v0.27 WDR37 Zornitza Stark Publications for gene: WDR37 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.26 CA8 Zornitza Stark Marked gene: CA8 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.26 CA8 Zornitza Stark Gene: ca8 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.26 AUTS2 Zornitza Stark Publications for gene: AUTS2 were set to 17211639; 27075013; 22872102
Cerebellar and Pontocerebellar Hypoplasia v0.26 AUTS2 Zornitza Stark Publications for gene: AUTS2 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.25 AUTS2 Zornitza Stark Mode of inheritance for gene: AUTS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.24 AUTS2 Zornitza Stark Classified gene: AUTS2 as Red List (low evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.24 AUTS2 Zornitza Stark Gene: auts2 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.23 AUTS2 Zornitza Stark Classified gene: AUTS2 as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.23 AUTS2 Zornitza Stark Gene: auts2 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.22 AUTS2 Zornitza Stark Tag SV/CNV tag was added to gene: AUTS2.
Cerebellar and Pontocerebellar Hypoplasia v0.22 WDR37 Zornitza Stark Mode of inheritance for gene: WDR37 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.21 B3GALNT2 Zornitza Stark Marked gene: B3GALNT2 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.21 B3GALNT2 Zornitza Stark Gene: b3galnt2 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.21 B3GALNT2 Zornitza Stark Classified gene: B3GALNT2 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.21 B3GALNT2 Zornitza Stark Gene: b3galnt2 has been classified as Green List (High Evidence).
Optic Atrophy v0.86 PLAA Zornitza Stark Marked gene: PLAA as ready
Optic Atrophy v0.86 PLAA Zornitza Stark Gene: plaa has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.20 CA8 Zornitza Stark Classified gene: CA8 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.20 CA8 Zornitza Stark Gene: ca8 has been classified as Green List (High Evidence).
Optic Atrophy v0.86 PLAA Zornitza Stark Phenotypes for gene: PLAA were changed from to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies (MIM#617527)
Optic Atrophy v0.85 RTN4IP1 Zornitza Stark Marked gene: RTN4IP1 as ready
Optic Atrophy v0.85 RTN4IP1 Zornitza Stark Gene: rtn4ip1 has been classified as Green List (High Evidence).
Optic Atrophy v0.85 PLAA Zornitza Stark Publications for gene: PLAA were set to
Optic Atrophy v0.84 SLC52A2 Zornitza Stark Marked gene: SLC52A2 as ready
Optic Atrophy v0.84 SLC52A2 Zornitza Stark Gene: slc52a2 has been classified as Green List (High Evidence).
Optic Atrophy v0.84 RTN4IP1 Zornitza Stark Classified gene: RTN4IP1 as Green List (high evidence)
Optic Atrophy v0.84 RTN4IP1 Zornitza Stark Gene: rtn4ip1 has been classified as Green List (High Evidence).
Optic Atrophy v0.83 PBX1 Zornitza Stark Marked gene: PBX1 as ready
Optic Atrophy v0.83 PBX1 Zornitza Stark Added comment: Comment when marking as ready: Agree, cannot find evidence of association with OA.
Optic Atrophy v0.83 PBX1 Zornitza Stark Gene: pbx1 has been classified as Red List (Low Evidence).
Optic Atrophy v0.83 PLAA Zornitza Stark Mode of inheritance for gene: PLAA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.82 PLAA Zornitza Stark Classified gene: PLAA as Amber List (moderate evidence)
Optic Atrophy v0.82 PLAA Zornitza Stark Gene: plaa has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.81 PBX1 Zornitza Stark Phenotypes for gene: PBX1 were changed from to Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Optic Atrophy v0.80 MFF Zornitza Stark Marked gene: MFF as ready
Optic Atrophy v0.80 MFF Zornitza Stark Added comment: Comment when marking as ready: Optic atrophy is a common feature of this mitochondrial disorder.
Optic Atrophy v0.80 MFF Zornitza Stark Gene: mff has been classified as Green List (High Evidence).
Optic Atrophy v0.80 MFF Zornitza Stark Classified gene: MFF as Green List (high evidence)
Optic Atrophy v0.80 MFF Zornitza Stark Gene: mff has been classified as Green List (High Evidence).
Optic Atrophy v0.79 SLC52A2 Zornitza Stark Classified gene: SLC52A2 as Green List (high evidence)
Optic Atrophy v0.79 SLC52A2 Zornitza Stark Gene: slc52a2 has been classified as Green List (High Evidence).
Optic Atrophy v0.78 FDXR Zornitza Stark Marked gene: FDXR as ready
Optic Atrophy v0.78 FDXR Zornitza Stark Gene: fdxr has been classified as Green List (High Evidence).
Optic Atrophy v0.78 PBX1 Zornitza Stark Publications for gene: PBX1 were set to
Optic Atrophy v0.77 AFG3L2 Zornitza Stark Marked gene: AFG3L2 as ready
Optic Atrophy v0.77 AFG3L2 Zornitza Stark Added comment: Comment when marking as ready: Please note OA has only been associated with a specific variant in this gene, R468C. The variant is de novo in some of the families, suggesting a hotspot rather than founder effect.
Optic Atrophy v0.77 AFG3L2 Zornitza Stark Gene: afg3l2 has been classified as Green List (High Evidence).
Optic Atrophy v0.77 PBX1 Zornitza Stark Mode of inheritance for gene: PBX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic Atrophy v0.77 FDXR Zornitza Stark Phenotypes for gene: FDXR were changed from to Auditory neuropathy and optic atrophy, MIM#617717
Optic Atrophy v0.76 PBX1 Zornitza Stark Classified gene: PBX1 as Red List (low evidence)
Optic Atrophy v0.76 PBX1 Zornitza Stark Gene: pbx1 has been classified as Red List (Low Evidence).
Optic Atrophy v0.75 FDXR Zornitza Stark Publications for gene: FDXR were set to
Optic Atrophy v0.74 FDXR Zornitza Stark Mode of inheritance for gene: FDXR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.73 AFG3L2 Zornitza Stark Phenotypes for gene: AFG3L2 were changed from to Spastic ataxia 5, autosomal recessive (MIM#614487); Spinocerebellar ataxia 28 (MIM#610246)
Optic Atrophy v0.72 TIMM8A Zornitza Stark Marked gene: TIMM8A as ready
Optic Atrophy v0.72 TIMM8A Zornitza Stark Gene: timm8a has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.72 TIMM8A Zornitza Stark Phenotypes for gene: TIMM8A were changed from to Mohr-Tranebjaerg syndrome (MIM#304700)
Optic Atrophy v0.71 AFG3L2 Zornitza Stark Publications for gene: AFG3L2 were set to
Optic Atrophy v0.70 AFG3L2 Zornitza Stark Mode of inheritance for gene: AFG3L2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic Atrophy v0.69 TIMM8A Zornitza Stark Publications for gene: TIMM8A were set to
Optic Atrophy v0.68 C19orf12 Zornitza Stark Marked gene: C19orf12 as ready
Optic Atrophy v0.68 C19orf12 Zornitza Stark Added comment: Comment when marking as ready: OA associated both with mono-allelic and bi-allelic variants in this gene, and has been reported in families both with SPG and NBIA.
Optic Atrophy v0.68 C19orf12 Zornitza Stark Gene: c19orf12 has been classified as Green List (High Evidence).
Optic Atrophy v0.68 C19orf12 Zornitza Stark Classified gene: C19orf12 as Green List (high evidence)
Optic Atrophy v0.68 C19orf12 Zornitza Stark Gene: c19orf12 has been classified as Green List (High Evidence).
Optic Atrophy v0.67 TIMM8A Zornitza Stark Mode of inheritance for gene: TIMM8A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Optic Atrophy v0.66 TIMM8A Zornitza Stark Classified gene: TIMM8A as Amber List (moderate evidence)
Optic Atrophy v0.66 TIMM8A Zornitza Stark Gene: timm8a has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.65 POLG Zornitza Stark Marked gene: POLG as ready
Optic Atrophy v0.65 POLG Zornitza Stark Added comment: Comment when marking as ready: Note there is only evidence for association between bi-allelic variants and OA, and even so, the evidence is limited.
Optic Atrophy v0.65 POLG Zornitza Stark Gene: polg has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.65 POLG Zornitza Stark Phenotypes for gene: POLG were changed from to Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459; Progressive external ophthalmoplegia, autosomal recessive 1 258450
Optic Atrophy v0.64 POLG Zornitza Stark Publications for gene: POLG were set to
Optic Atrophy v0.63 POLG Zornitza Stark Mode of inheritance for gene: POLG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.62 POLG Zornitza Stark Classified gene: POLG as Amber List (moderate evidence)
Optic Atrophy v0.62 POLG Zornitza Stark Gene: polg has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.61 DNM1L Zornitza Stark Marked gene: DNM1L as ready
Optic Atrophy v0.61 DNM1L Zornitza Stark Gene: dnm1l has been classified as Green List (High Evidence).
Optic Atrophy v0.61 DNM1L Zornitza Stark Classified gene: DNM1L as Green List (high evidence)
Optic Atrophy v0.61 DNM1L Zornitza Stark Gene: dnm1l has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.3 SLC18A2 Zornitza Stark Marked gene: SLC18A2 as ready
Neurotransmitter Defects v0.3 SLC18A2 Zornitza Stark Gene: slc18a2 has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.3 SLC18A2 Zornitza Stark Classified gene: SLC18A2 as Green List (high evidence)
Neurotransmitter Defects v0.3 SLC18A2 Zornitza Stark Gene: slc18a2 has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.2 SLC18A2 Zornitza Stark gene: SLC18A2 was added
gene: SLC18A2 was added to Neurotransmitter Defects. Sources: Expert Review
Mode of inheritance for gene: SLC18A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC18A2 were set to 23363473; 31240161; 26497564; 9427250; 11463816; 9427251
Phenotypes for gene: SLC18A2 were set to Parkinsonism-dystonia, infantile, 2, MIM# 618049
Review for gene: SLC18A2 was set to GREEN
Added comment: At least three unrelated families reported, potential treatment implications. Associated with intellectual disability and epilepsy as well as prominent movement disorder. Three mouse models.
Sources: Expert Review
Dystonia and Chorea v0.62 SLC18A2 Zornitza Stark Marked gene: SLC18A2 as ready
Dystonia and Chorea v0.62 SLC18A2 Zornitza Stark Gene: slc18a2 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.62 SLC18A2 Zornitza Stark Classified gene: SLC18A2 as Green List (high evidence)
Dystonia and Chorea v0.62 SLC18A2 Zornitza Stark Gene: slc18a2 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.61 SLC18A2 Zornitza Stark gene: SLC18A2 was added
gene: SLC18A2 was added to Dystonia - complex. Sources: Expert Review
Mode of inheritance for gene: SLC18A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC18A2 were set to 23363473; 31240161; 26497564
Phenotypes for gene: SLC18A2 were set to Parkinsonism-dystonia, infantile, 2, MIM# 618049
Review for gene: SLC18A2 was set to GREEN
Added comment: At least three unrelated families reported, potential treatment implications. Associated with intellectual disability and epilepsy as well as prominent movement disorder.
Sources: Expert Review
Mendeliome v0.2290 ACOX2 Zornitza Stark Marked gene: ACOX2 as ready
Mendeliome v0.2290 ACOX2 Zornitza Stark Added comment: Comment when marking as ready: The ACOX2 gene encodes a peroxisomal branched-chain acyl-CoA oxidase involved in bile acid synthesis.
Mendeliome v0.2290 ACOX2 Zornitza Stark Gene: acox2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2290 ACOX2 Zornitza Stark Classified gene: ACOX2 as Amber List (moderate evidence)
Mendeliome v0.2290 ACOX2 Zornitza Stark Gene: acox2 has been classified as Amber List (Moderate Evidence).
Peroxisomal Disorders v0.2 ACOX2 Zornitza Stark changed review comment from: Comment when marking as ready: Two unrelated families reported.; to: Comment when marking as ready: Two unrelated families reported. The ACOX2 gene encodes a peroxisomal branched-chain acyl-CoA oxidase involved in bile acid synthesis.
Mendeliome v0.2289 ACOX2 Zornitza Stark gene: ACOX2 was added
gene: ACOX2 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: ACOX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACOX2 were set to 27647924; 27884763
Phenotypes for gene: ACOX2 were set to Bile acid synthesis defect, congenital, 6, 617308
Review for gene: ACOX2 was set to AMBER
Added comment: Two unrelated families reported.
Sources: Expert Review
Peroxisomal Disorders v0.2 ACOX2 Zornitza Stark Marked gene: ACOX2 as ready
Peroxisomal Disorders v0.2 ACOX2 Zornitza Stark Added comment: Comment when marking as ready: Two unrelated families reported.
Peroxisomal Disorders v0.2 ACOX2 Zornitza Stark Gene: acox2 has been classified as Amber List (Moderate Evidence).
Peroxisomal Disorders v0.2 ACOX2 Zornitza Stark Classified gene: ACOX2 as Amber List (moderate evidence)
Peroxisomal Disorders v0.2 ACOX2 Zornitza Stark Gene: acox2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2288 LARS Zornitza Stark Marked gene: LARS as ready
Mendeliome v0.2288 LARS Zornitza Stark Gene: lars has been classified as Green List (High Evidence).
Mendeliome v0.2288 LARS Zornitza Stark Classified gene: LARS as Green List (high evidence)
Mendeliome v0.2288 LARS Zornitza Stark Gene: lars has been classified as Green List (High Evidence).
Mendeliome v0.2287 LARS Zornitza Stark gene: LARS was added
gene: LARS was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: LARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LARS were set to 28774368; 30349989; 22607940
Phenotypes for gene: LARS were set to Infantile liver failure syndrome 1, MIM# 615438
Review for gene: LARS was set to GREEN
gene: LARS was marked as current diagnostic
Added comment: Six unrelated families reported in the literature, reviewed in PMID: 30349989.
Sources: NHS GMS
Cholestasis v0.8 LARS Zornitza Stark Marked gene: LARS as ready
Cholestasis v0.8 LARS Zornitza Stark Gene: lars has been classified as Green List (High Evidence).
Cholestasis v0.8 LARS Zornitza Stark Phenotypes for gene: LARS were changed from ?Infantile liver failure syndrome 1, 615438 to Infantile liver failure syndrome 1, MIM# 615438
Cholestasis v0.7 LARS Zornitza Stark Classified gene: LARS as Green List (high evidence)
Cholestasis v0.7 LARS Zornitza Stark Gene: lars has been classified as Green List (High Evidence).
Cholestasis v0.6 LARS Zornitza Stark reviewed gene: LARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30349989; Phenotypes: Infantile liver failure syndrome 1, MIM# 615438; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Peroxisomal Disorders v0.1 ACOX2 Anna Le Fevre gene: ACOX2 was added
gene: ACOX2 was added to Peroxisomal Disorders. Sources: Expert Review
Mode of inheritance for gene: ACOX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACOX2 were set to 27647924; 27884763
Phenotypes for gene: ACOX2 were set to Bile acid synthesis defect, congenital, 6, 617308
Review for gene: ACOX2 was set to AMBER
Added comment: Sources: Expert Review
Cholestasis v0.6 LARS Anna Le Fevre reviewed gene: LARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 28774368, 30349989, 22607940; Phenotypes: ?Infantile liver failure syndrome 1, 615438; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.6 LARS Anna Le Fevre Deleted their review
Cholestasis v0.6 LARS Anna Le Fevre Deleted their comment
Cholestasis v0.6 LARS Anna Le Fevre Deleted their comment
Cholestasis v0.6 LARS Anna Le Fevre commented on gene: LARS: Multiple families with variable ethnicity have been reported with this phenotype.
Cholestasis v0.6 LARS Anna Le Fevre gene: LARS was added
gene: LARS was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: LARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LARS were set to 28774368; 30349989; 22607940
Phenotypes for gene: LARS were set to ?Infantile liver failure syndrome 1, 615438
Review for gene: LARS was set to GREEN
Added comment: Sources: NHS GMS
Mendeliome v0.2286 KCNJ11 Zornitza Stark Marked gene: KCNJ11 as ready
Mendeliome v0.2286 KCNJ11 Zornitza Stark Gene: kcnj11 has been classified as Green List (High Evidence).
Mendeliome v0.2286 KCNJ11 Zornitza Stark Phenotypes for gene: KCNJ11 were changed from to {Diabetes mellitus, type 2, susceptibility to} 125853; Diabetes mellitus, transient neonatal, 3 610582; Diabetes, permanent neonatal, with or without neurologic features 606176; Hyperinsulinemic hypoglycemia, familial, 2 601820; Maturity-onset diabetes of the young, type 13 616329 AD
Mendeliome v0.2285 KCNJ11 Zornitza Stark Publications for gene: KCNJ11 were set to
Mendeliome v0.2284 KCNJ11 Zornitza Stark Mode of pathogenicity for gene: KCNJ11 was changed from to Other
Mendeliome v0.2283 KCNJ11 Zornitza Stark Mode of inheritance for gene: KCNJ11 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.19 CA8 Elena Savva gene: CA8 was added
gene: CA8 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: CA8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CA8 were set to PMID: 31693170; 19461874; 23087022
Phenotypes for gene: CA8 were set to Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 613227
Added comment: Cerebellar ataxia listed in OMIM

PMID: 31693170, VCGS publication - 1 child with homozygous PTC and progressive cerebellar atrophy, poor oromotor coordination, marked cerebellar dysarthria. Paper reviews other findings for this gene (very few) and notes MRI findings of one additional patient with cerebellar hypoplasia, and another with cerebellar volume loss. Another patient is reported with cerebellar ataxia but had no MRI (PMID: 19461874).

PMID: 23087022 - zebrafish mutant models demonstrate increased neuronal cell death in the cerebellum, lost cerebellar volume
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.19 B3GALNT2 Elena Savva gene: B3GALNT2 was added
gene: B3GALNT2 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: B3GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GALNT2 were set to PMID: 23453667; 29791932
Phenotypes for gene: B3GALNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 615181
Review for gene: B3GALNT2 was set to GREEN
Added comment: PMID: 23453667 - 5 unrelated patients reviewed, all less than 2 years old. Pontocerebellar hypoplasia reported in 2/5, cerebellar dysplasia in 2/5.

PMID: 29791932 - 1 patient w/ pontocerebellar hypoplasia. Reviews previous reports and notes an additional two patients with hypoplastic pons and cerebellar cysts
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.19 WDR37 Crystle Lee reviewed gene: WDR37: Rating: GREEN; Mode of pathogenicity: None; Publications: 31327508; Phenotypes: Neurooculocardiogenitourinary syndrome (MIM#618652); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cerebellar and Pontocerebellar Hypoplasia v0.19 AUTS2 Elena Savva reviewed gene: AUTS2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 17211639, 27075013, 22872102; Phenotypes: Mental retardation, autosomal dominant 26 615834; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cerebellar and Pontocerebellar Hypoplasia v0.19 WDR81 Crystle Lee gene: WDR81 was added
gene: WDR81 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR81 were set to 25558065; 21885617
Phenotypes for gene: WDR81 were set to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
Review for gene: WDR81 was set to GREEN
Added comment: Associated with cerebellar hypoplasia

PMID: 25558065; Alazami 2015: 1 hom missense reported. Severe cerebellar hypoplasia noted as cause of death. No additional information.
PMID: 21885617: Gulsuner 2011: Hom missense reported in a large consang family as the cause of cerebellar hypoplasia
Komara 2016: 2 sibs in consang fam.
Sources: Expert Review
Cataract v0.131 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Cataract v0.130 STXBP2 Bryony Thompson Classified gene: STXBP2 as Red List (low evidence)
Cataract v0.130 STXBP2 Bryony Thompson Gene: stxbp2 has been classified as Red List (Low Evidence).
Cataract v0.129 STXBP2 Bryony Thompson reviewed gene: STXBP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 5 MIM#613101; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.129 SLC37A4 Bryony Thompson Marked gene: SLC37A4 as ready
Cataract v0.129 SLC37A4 Bryony Thompson Gene: slc37a4 has been classified as Red List (Low Evidence).
Cataract v0.129 SLC37A4 Bryony Thompson Classified gene: SLC37A4 as Red List (low evidence)
Cataract v0.129 SLC37A4 Bryony Thompson Gene: slc37a4 has been classified as Red List (Low Evidence).
Cataract v0.128 SLC37A4 Bryony Thompson reviewed gene: SLC37A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease Ib MIM#232220, Glycogen storage disease Ic MIM#232240; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.128 SKIV2L Bryony Thompson Marked gene: SKIV2L as ready
Cataract v0.128 SKIV2L Bryony Thompson Gene: skiv2l has been classified as Red List (Low Evidence).
Cataract v0.128 SKIV2L Bryony Thompson Classified gene: SKIV2L as Red List (low evidence)
Cataract v0.128 SKIV2L Bryony Thompson Gene: skiv2l has been classified as Red List (Low Evidence).
Cataract v0.127 SKIV2L Bryony Thompson reviewed gene: SKIV2L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Trichohepatoenteric syndrome 2 MIM#614602; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.19 ADGRG1 Elena Savva gene: ADGRG1 was added
gene: ADGRG1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: ADGRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADGRG1 were set to PMID: 20929962; 16240336
Phenotypes for gene: ADGRG1 were set to Polymicrogyria, bilateral frontoparietal 606854; Polymicrogyria, bilateral perisylvian 615752
Review for gene: ADGRG1 was set to GREEN
Added comment: aka GPR56

PMID: 15044805 - paper linked from PanelApp UK - no patients with relevant phenotype

PMID: 20929962 - terminated fetus with agenesis of the cerebellar vermis and hypoplastic cerebellar hemispheres, was homozygous for a missense. Cerebellar dysplasia was observed in all patients (13/13), with vermis involvement in 11/13 patients. Hypoplasia with flattening of the ventral portion of the pons at the level of the middle cerebellar peduncle was detected in all patients

PMID: 16240336 - 17/18 families show brainstem/cerebellar hypoplasia
Sources: Expert Review
Mendeliome v0.2282 SIPA1L3 Bryony Thompson Marked gene: SIPA1L3 as ready
Mendeliome v0.2282 SIPA1L3 Bryony Thompson Gene: sipa1l3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2282 SIPA1L3 Bryony Thompson Classified gene: SIPA1L3 as Amber List (moderate evidence)
Mendeliome v0.2282 SIPA1L3 Bryony Thompson Gene: sipa1l3 has been classified as Amber List (Moderate Evidence).
Cataract v0.127 SIPA1L3 Bryony Thompson Marked gene: SIPA1L3 as ready
Cataract v0.127 SIPA1L3 Bryony Thompson Gene: sipa1l3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2281 SIPA1L3 Bryony Thompson gene: SIPA1L3 was added
gene: SIPA1L3 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SIPA1L3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SIPA1L3 were set to 28951961; 27993984; 25804400
Phenotypes for gene: SIPA1L3 were set to Cataract 45 MIM#616851
Review for gene: SIPA1L3 was set to AMBER
Added comment: A consanguineous German family segregating a homozygous nonsense mutation in two sisters with congenital cataracts (PMID: 25804400). Null Zebrafish, Xenopus and mouse models recapitulate the human cataract phenotype. A case with congenital cataracts as a feature of their condition harboured a de novo balanced chromosomal translocation, 46,XY,t(2;19)(q37.3;q13.1), where breakpoint mapping and sequencing showed a physical disruption of the 5′UTR of SIPA1L3 (PMID: 26231217). In a case with bilateral congenital cataracts a heterozygous missense (D148Y) was identified and in vitro functional assays of the variant resulted in abnormal actin morphology (PMID: 26231217).
Sources: Expert list
Cataract v0.127 SIPA1L3 Bryony Thompson Classified gene: SIPA1L3 as Amber List (moderate evidence)
Cataract v0.127 SIPA1L3 Bryony Thompson Added comment: Comment on list classification: There is growing evidence supporting biallelic inheritance
Cataract v0.127 SIPA1L3 Bryony Thompson Gene: sipa1l3 has been classified as Amber List (Moderate Evidence).
Cataract v0.126 SIPA1L3 Bryony Thompson gene: SIPA1L3 was added
gene: SIPA1L3 was added to Cataract. Sources: Expert list
Mode of inheritance for gene: SIPA1L3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SIPA1L3 were set to 28951961; 27993984; 25804400
Phenotypes for gene: SIPA1L3 were set to Cataract 45 MIM#616851
Review for gene: SIPA1L3 was set to AMBER
Added comment: A consanguineous German family segregating a homozygous nonsense mutation in two sisters with congenital cataracts (PMID: 25804400). Null Zebrafish, Xenopus and mouse models recapitulate the human cataract phenotype. A case with congenital cataracts as a feature of their condition harboured a de novo balanced chromosomal translocation, 46,XY,t(2;19)(q37.3;q13.1), where breakpoint mapping and sequencing showed a physical disruption of the 5′UTR of SIPA1L3 (PMID: 26231217). In a case with bilateral congenital cataracts a heterozygous missense (D148Y) was identified and in vitro functional assays of the variant resulted in abnormal actin morphology (PMID: 26231217).
Sources: Expert list
Cataract v0.125 SH2D1A Bryony Thompson Marked gene: SH2D1A as ready
Cataract v0.125 SH2D1A Bryony Thompson Gene: sh2d1a has been classified as Red List (Low Evidence).
Cataract v0.125 SH2D1A Bryony Thompson Classified gene: SH2D1A as Red List (low evidence)
Cataract v0.125 SH2D1A Bryony Thompson Gene: sh2d1a has been classified as Red List (Low Evidence).
Cataract v0.124 SH2D1A Bryony Thompson reviewed gene: SH2D1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lymphoproliferative syndrome, X-linked, 1 MIM#308240; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cataract v0.124 RET Bryony Thompson Classified gene: RET as Red List (low evidence)
Cataract v0.124 RET Bryony Thompson Gene: ret has been classified as Red List (Low Evidence).
Cataract v0.123 RET Bryony Thompson reviewed gene: RET: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.123 RAG2 Bryony Thompson Marked gene: RAG2 as ready
Cataract v0.123 RAG2 Bryony Thompson Gene: rag2 has been classified as Red List (Low Evidence).
Cataract v0.123 RAG2 Bryony Thompson Classified gene: RAG2 as Red List (low evidence)
Cataract v0.123 RAG2 Bryony Thompson Gene: rag2 has been classified as Red List (Low Evidence).
Cataract v0.122 RAG2 Bryony Thompson reviewed gene: RAG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined cellular and humoral immune defects with granulomas MIM#233650, Omenn syndrome MIM#603554, Severe combined immunodeficiency, B cell-negative MIM#601457; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.122 POMT2 Bryony Thompson Mode of inheritance for gene: POMT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.121 POMT2 Bryony Thompson Marked gene: POMT2 as ready
Cataract v0.121 POMT2 Bryony Thompson Gene: pomt2 has been classified as Green List (High Evidence).
Cataract v0.121 POMT2 Bryony Thompson reviewed gene: POMT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15894594, 17878207; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 MIM#613150, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 MIM#613156, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 MIM#613158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.121 POMT1 Bryony Thompson Marked gene: POMT1 as ready
Cataract v0.121 POMT1 Bryony Thompson Gene: pomt1 has been classified as Amber List (Moderate Evidence).
Cataract v0.121 POMT1 Bryony Thompson Classified gene: POMT1 as Amber List (moderate evidence)
Cataract v0.121 POMT1 Bryony Thompson Gene: pomt1 has been classified as Amber List (Moderate Evidence).
Cataract v0.120 POMT1 Bryony Thompson reviewed gene: POMT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 17878207, 19299310; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 MIM#236670, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 MIM#613155, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 MIM#609308; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2280 KCNJ11 Elena Savva edited their review of gene: KCNJ11: Added comment: Congenital hyperinsulinism (HI) variants are generally reported in heterozygous patients where they also carry a somatic 2nd hit, or have isodisomy of the paternal allele (focal HI), or in bilallelic patients (diffuse HI). This condition can be dominant (but rarely), where patients with these missense are diazoxide-responsive. Patients with recessively inherited variants are diazoxide-unresponsive (OMIM, PMID:11395395, PMID: 23275527, PMID: 23345197).

Genotype-phenotype correlation:
Permanent neonatal diabetes – GOF (OMIM)
Permanent neonatal diabetes + other features – GOF (OMIM)
Congenital hyperinsulinism – LOF (PMID:18250167).

PTCs - LOF
Missense - Loss and gain of function
LOF – cause reduce channel expression, channel activity and increase current decay (PMID:18250167)
GOF - impair ATP-based sensitivity, more open state channel (OMIM)

Mutations generally occur on the paternal allele (PMID: 23345197).; Changed publications: PMID:18250167, 11395395, 23275527, 23345197
Mendeliome v0.2280 KCNJ11 Elena Savva reviewed gene: KCNJ11: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: {Diabetes mellitus, type 2, susceptibility to} 125853, Diabetes mellitus, transient neonatal, 3 610582, Diabetes, permanent neonatal, with or without neurologic features 606176, Hyperinsulinemic hypoglycemia, familial, 2 601820, Maturity-onset diabetes of the young, type 13 616329 AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cataract v0.120 PLCG2 Bryony Thompson Marked gene: PLCG2 as ready
Cataract v0.120 PLCG2 Bryony Thompson Gene: plcg2 has been classified as Red List (Low Evidence).
Cataract v0.120 PLCG2 Bryony Thompson Classified gene: PLCG2 as Red List (low evidence)
Cataract v0.120 PLCG2 Bryony Thompson Gene: plcg2 has been classified as Red List (Low Evidence).
Cataract v0.119 PLCG2 Bryony Thompson reviewed gene: PLCG2: Rating: RED; Mode of pathogenicity: Other; Publications: 23000145; Phenotypes: Autoinflammation, antibody deficiency, and immune dysregulation syndrome MIM#614878; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic Atrophy v0.60 DNM1L Crystle Lee gene: DNM1L was added
gene: DNM1L was added to Optic Atrophy. Sources: Expert Review
Mode of inheritance for gene: DNM1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNM1L were set to 28969390; 30850373; 17460227
Phenotypes for gene: DNM1L were set to Optic atrophy 5 (MIM#610708)
Mode of pathogenicity for gene: DNM1L was set to Other
Review for gene: DNM1L was set to GREEN
Added comment: Reported in patients with isolated OA and as a feature of a multisystem disorder

PMID: 28969390; Gerber 2017: 2 different variants reported in 3 large families with isolated DOA. Functional studies shown to exert dominant-negative effect
PMID: 30850373; Assia 2019: Optic atrophy reported as a feature in a patient with a de novo missense. (reported gene as DLP1)
PMID: 17460227; Waterham 2007; Optic atrophy reported as a feature in 1 patient
Sources: Expert Review
Cataract v0.119 OAT Bryony Thompson Marked gene: OAT as ready
Cataract v0.119 OAT Bryony Thompson Gene: oat has been classified as Green List (High Evidence).
Cataract v0.119 OAT Bryony Thompson Classified gene: OAT as Green List (high evidence)
Cataract v0.119 OAT Bryony Thompson Gene: oat has been classified as Green List (High Evidence).
Cataract v0.118 OAT Bryony Thompson gene: OAT was added
gene: OAT was added to Cataract. Sources: Expert list
Mode of inheritance for gene: OAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OAT were set to 22674428; 11297489
Phenotypes for gene: OAT were set to Gyrate atrophy of choroid and retina with or without ornithinemia MIM#258870
Review for gene: OAT was set to GREEN
Added comment: Onset of cataract in the second/third decade is a common feature of this condition.
Sources: Expert list
Optic Atrophy v0.60 POLG Elena Savva reviewed gene: POLG: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 31613174, 20142534, 30395865; Phenotypes: Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700, Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662, Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459, Progressive external ophthalmoplegia, autosomal dominant 1 157640, Progressive external ophthalmoplegia, autosomal recessive 1 258450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.117 NCF4 Bryony Thompson Marked gene: NCF4 as ready
Cataract v0.117 NCF4 Bryony Thompson Gene: ncf4 has been classified as Red List (Low Evidence).
Cataract v0.117 NCF4 Bryony Thompson Classified gene: NCF4 as Red List (low evidence)
Cataract v0.117 NCF4 Bryony Thompson Gene: ncf4 has been classified as Red List (Low Evidence).
Cataract v0.116 NCF4 Bryony Thompson reviewed gene: NCF4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.116 NCF2 Bryony Thompson Marked gene: NCF2 as ready
Cataract v0.116 NCF2 Bryony Thompson Gene: ncf2 has been classified as Red List (Low Evidence).
Cataract v0.116 NCF2 Bryony Thompson Classified gene: NCF2 as Red List (low evidence)
Cataract v0.116 NCF2 Bryony Thompson Gene: ncf2 has been classified as Red List (Low Evidence).
Cataract v0.115 NCF2 Bryony Thompson reviewed gene: NCF2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chronic granulomatous disease due to deficiency of NCF-2 MIM#233710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.115 NCF1 Bryony Thompson Classified gene: NCF1 as Red List (low evidence)
Cataract v0.115 NCF1 Bryony Thompson Gene: ncf1 has been classified as Red List (Low Evidence).
Cataract v0.114 NCF1 Bryony Thompson reviewed gene: NCF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chronic granulomatous disease due to deficiency of NCF-1 MIM#233700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.60 TIMM8A Crystle Lee edited their review of gene: TIMM8A: Added comment: TIMM8A causes Mohr–Tranebjaerg syndrome (also called deafness-dystonia-optic neuronopathy [DDON] syndrome.
Optic atrophy does not appear to be a major or consistent feature

PMID: 31903733; Neighbors 2020: Patient reported did not show optic neuropathy or retinal involvement
PMID: 30634948; Wang 2019: Reported 3 unrelated families, no signs of optic atrophy
PMID: 22736418; Ha 2012: Only 1 of 3 family showed optic atrophy; Changed phenotypes: Mohr-Tranebjaerg syndrome (MIM#304700)
Cataract v0.114 MSMO1 Bryony Thompson Classified gene: MSMO1 as Green List (high evidence)
Cataract v0.114 MSMO1 Bryony Thompson Gene: msmo1 has been classified as Green List (High Evidence).
Optic Atrophy v0.60 TIMM8A Crystle Lee reviewed gene: TIMM8A: Rating: AMBER; Mode of pathogenicity: None; Publications: 31903733, 30634948, 22736418; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cataract v0.113 MSMO1 Bryony Thompson gene: MSMO1 was added
gene: MSMO1 was added to Cataract. Sources: Expert list
Mode of inheritance for gene: MSMO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MSMO1 were set to 21285510; 24144731; 28673550
Phenotypes for gene: MSMO1 were set to Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834
Review for gene: MSMO1 was set to GREEN
Added comment: At least 3 probands with biallelic variant and congenital cataract as a prominent feature of the condition.
Sources: Expert list
Cataract v0.112 LRBA Bryony Thompson Classified gene: LRBA as Red List (low evidence)
Cataract v0.112 LRBA Bryony Thompson Gene: lrba has been classified as Red List (Low Evidence).
Cataract v0.111 LRBA Bryony Thompson reviewed gene: LRBA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency, common variable, 8, with autoimmunity MIM#614700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.111 LIG4 Bryony Thompson Classified gene: LIG4 as Red List (low evidence)
Cataract v0.111 LIG4 Bryony Thompson Gene: lig4 has been classified as Red List (Low Evidence).
Cataract v0.110 LIG4 Bryony Thompson reviewed gene: LIG4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: LIG4 syndrome MIM#606593; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.60 C19orf12 Elena Savva gene: C19orf12 was added
gene: C19orf12 was added to Optic Atrophy. Sources: Expert Review
Mode of inheritance for gene: C19orf12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: C19orf12 were set to PMID: 22584950; 21981780; 23857908
Phenotypes for gene: C19orf12 were set to ?Spastic paraplegia 43, autosomal recessive 61504; Neurodegeneration with brain iron accumulation 4 614298
Review for gene: C19orf12 was set to GREEN
Added comment: PMID: 22584950 - reports three patients (two families). Two sibs from one family (chet missense with inframe deletion) did NOT have optic atrophy, the third patient did (chet frameshift with the same inframe deletion). Patients had NBIA.

PMID: 21981780 - optic atrophy described as a "common finding".
19 families reported, optic atrophy was a feature in all familial cases (4/4), and most simplex cases (12/15)
Patients were reported with both bilallelic and monoallelic genotypes. Patients had NBIA.

PMID: 23857908 - 1 family with optic atrophy and SPG43. Same variant reported in an NBIA family
Sources: Expert Review
Optic Atrophy v0.60 AFG3L2 Crystle Lee changed review comment from: Recurrent missense, R468C, variant associated with OA - reported in 3 families.

PMID: 29181157; Colavito 2017; R468C reported in a patient with isolated OA
PMID: 26539208; Charif 2015: R468C reported in a family with OA and mild ID
PMID: 30252181; Magri 2018: Reported a patient with early-onset optic atrophy with spastic ataxia. Patient harboured de novo R468C and het frameshift in SPG7. Functional analysis of R468C in yeast showed abolished AFG3L2 function.

PMID: 30389403; Mancini 2019: Mouse model harbouring a different missense results in adult-onset ataxia and no vision loss; to: Recurrent missense, R468C, variant associated with OA - reported in 3 families.

PMID: 29181157; Colavito 2017; R468C reported in a patient with isolated OA
PMID: 26539208; Charif 2015: R468C reported in a family with OA and mild ID
PMID: 30252181; Magri 2018: Reported a patient with early-onset optic atrophy with spastic ataxia. Patient harboured de novo R468C and het frameshift in SPG7. Functional analysis of R468C in yeast showed abolished AFG3L2 function.

PMID: 30389403; Mancini 2019: Mouse model harbouring a different missense results in adult-onset ataxia and no vision loss
Optic Atrophy v0.60 AFG3L2 Crystle Lee edited their review of gene: AFG3L2: Changed publications: 29181157, 26539208, 30252181, 30389403
Optic Atrophy v0.60 AFG3L2 Crystle Lee reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29181157, 26539208, 30252181; Phenotypes: Spastic ataxia 5, autosomal recessive (MIM#614487), Spinocerebellar ataxia 28 (MIM#610246); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Optic Atrophy v0.60 FDXR Elena Savva reviewed gene: FDXR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30250212, 28965846; Phenotypes: Auditory neuropathy and optic atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.60 PBX1 Elena Savva changed review comment from: PMID: 29036646 - 8 patients reported with both missense and PTCs. No indication in any patient of an eye-related phenotype; to: PMID: 29036646 - 8 patients reported with both missense and PTCs. No indication in any patient of an eye-related phenotype

Looked for other papers/databases, no indication of this gene causing an eye phenotype. Some papers discuss developmental biology (PMID: 19797217) in mice, but no patients as of yet reported.
Optic Atrophy v0.60 PBX1 Elena Savva reviewed gene: PBX1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29036646; Phenotypes: Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Optic Atrophy v0.60 SLC52A2 Elena Savva gene: SLC52A2 was added
gene: SLC52A2 was added to Optic Atrophy. Sources: Expert Review
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC52A2 were set to PMID: 22864630; 29961509; 30377535; 29287867
Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2
Review for gene: SLC52A2 was set to GREEN
Added comment: PMID: 22864630 - 1 child with optic atrophy. She has biallelic chet missense, functional studies confirm a loss of function consequence.

PMID: 23243084 - reported by PanelApp UK but no patient observed with optic atrophy

PMID: 29961509 - 1 family (two siblings) with optic atrophy and a homozygous missense.

PMID: 30377535 - Described optic atrophy as a "typical" common feature of riboflavin transporter deficiency

PMID: 29287867 - A Iranian family (3 sibs) with a homozygous missense and optic atrophy
Sources: Expert Review
Optic Atrophy v0.60 MFF Elena Savva gene: MFF was added
gene: MFF was added to Optic Atrophy. Sources: Expert Review
Mode of inheritance for gene: MFF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MFF were set to PMID: 26783368; 22499341; 30581454
Phenotypes for gene: MFF were set to Encephalopathy due to defective mitochondrial and peroxisomal fission 2
Penetrance for gene: MFF were set to unknown
Review for gene: MFF was set to GREEN
Added comment: PMID: 26783368 - 2 fams with bilallelic PTCs with optic atrophy

PMID: 22499341 - 1 fam with bilallelic PTCs with optic atrophy

PMID: 30581454 - 1 patient with bilallelic PTCs with optic atrophy
Sources: Expert Review
Optic Atrophy v0.60 PLAA Crystle Lee reviewed gene: PLAA: Rating: AMBER; Mode of pathogenicity: None; Publications: 28413018, 28007986; Phenotypes: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies (MIM#617527); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.60 RTN4IP1 Elena Savva gene: RTN4IP1 was added
gene: RTN4IP1 was added to Optic Atrophy. Sources: Expert Review
Mode of inheritance for gene: RTN4IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RTN4IP1 were set to PMID: 26593267; 31077085
Phenotypes for gene: RTN4IP1 were set to Optic atrophy 10 with or without ataxia, mental retardation, and seizures
Penetrance for gene: RTN4IP1 were set to unknown
Review for gene: RTN4IP1 was set to GREEN
Added comment: PMID: 26593267 - 4 families with hom missense or chet w/ PTCs and optic atrophy
PMID: 31077085 - 1 fam (2 chet sibs) w/ missense and PTC and optic atrophy
Sources: Expert Review
Mendeliome v0.2280 SLC18A2 Zornitza Stark Marked gene: SLC18A2 as ready
Mendeliome v0.2280 SLC18A2 Zornitza Stark Gene: slc18a2 has been classified as Green List (High Evidence).
Mendeliome v0.2280 SLC18A2 Zornitza Stark Classified gene: SLC18A2 as Green List (high evidence)
Mendeliome v0.2280 SLC18A2 Zornitza Stark Gene: slc18a2 has been classified as Green List (High Evidence).
Mendeliome v0.2279 SLC18A2 Zornitza Stark gene: SLC18A2 was added
gene: SLC18A2 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: SLC18A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC18A2 were set to 23363473; 31240161; 26497564
Phenotypes for gene: SLC18A2 were set to Parkinsonism-dystonia, infantile, 2, MIM# 618049
Review for gene: SLC18A2 was set to GREEN
Added comment: At least three unrelated families reported, potential treatment implications
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.2524 SLC18A2 Zornitza Stark Marked gene: SLC18A2 as ready
Intellectual disability syndromic and non-syndromic v0.2524 SLC18A2 Zornitza Stark Gene: slc18a2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2524 SLC18A2 Zornitza Stark Classified gene: SLC18A2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2524 SLC18A2 Zornitza Stark Gene: slc18a2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2523 SLC18A2 Zornitza Stark gene: SLC18A2 was added
gene: SLC18A2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review
Mode of inheritance for gene: SLC18A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC18A2 were set to 23363473; 31240161; 26497564
Phenotypes for gene: SLC18A2 were set to Parkinsonism-dystonia, infantile, 2, MIM# 618049
Review for gene: SLC18A2 was set to GREEN
Added comment: At least three unrelated families reported, potential treatment implications.
Sources: Expert Review
Mendeliome v0.2278 RNU4ATAC Zornitza Stark Marked gene: RNU4ATAC as ready
Mendeliome v0.2278 RNU4ATAC Zornitza Stark Added comment: Comment when marking as ready: Note gene is not protein coding.
Mendeliome v0.2278 RNU4ATAC Zornitza Stark Gene: rnu4atac has been classified as Green List (High Evidence).
Mendeliome v0.2278 RNU4ATAC Zornitza Stark Phenotypes for gene: RNU4ATAC were changed from to Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710); Roifman syndrome (MIM# 616651)
Mendeliome v0.2277 RNU4ATAC Zornitza Stark Publications for gene: RNU4ATAC were set to
Mendeliome v0.2276 RNU4ATAC Zornitza Stark Mode of inheritance for gene: RNU4ATAC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.60 SLC24A1 Zornitza Stark Marked gene: SLC24A1 as ready
Optic Atrophy v0.60 SLC24A1 Zornitza Stark Added comment: Comment when marking as ready: Agree, I can only find association with retinal disease, not optic atrophy.
Optic Atrophy v0.60 SLC24A1 Zornitza Stark Gene: slc24a1 has been classified as Red List (Low Evidence).
Optic Atrophy v0.60 SLC24A1 Zornitza Stark Phenotypes for gene: SLC24A1 were changed from to Night blindness, congenital stationary (complete), 1D, autosomal recessive; 613830
Optic Atrophy v0.59 SLC24A1 Zornitza Stark Publications for gene: SLC24A1 were set to
Optic Atrophy v0.58 SLC24A1 Zornitza Stark Mode of inheritance for gene: SLC24A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.57 SLC24A1 Zornitza Stark Classified gene: SLC24A1 as Red List (low evidence)
Optic Atrophy v0.57 SLC24A1 Zornitza Stark Gene: slc24a1 has been classified as Red List (Low Evidence).
Mendeliome v0.2275 RNU4ATAC Ain Roesley reviewed gene: RNU4ATAC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23794361, 26522830, 30455926; Phenotypes: Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710), Roifman syndrome (MIM# 616651); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.56 SLC24A1 Belinda Chong reviewed gene: SLC24A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26822852, 20850105; Phenotypes: Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2275 IFT172 Zornitza Stark Marked gene: IFT172 as ready
Mendeliome v0.2275 IFT172 Zornitza Stark Added comment: Comment when marking as ready: Established ciliopathy gene.
Mendeliome v0.2275 IFT172 Zornitza Stark Gene: ift172 has been classified as Green List (High Evidence).
Mendeliome v0.2275 IFT172 Zornitza Stark Phenotypes for gene: IFT172 were changed from to Retinitis pigmentosa 71 616394; Short-rib thoracic dysplasia 10 with or without polydactyly - 615630; Bardet-Biedl syndrome
Mendeliome v0.2274 IFT172 Zornitza Stark Publications for gene: IFT172 were set to
Mendeliome v0.2273 IFT172 Zornitza Stark Mode of inheritance for gene: IFT172 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2522 KMT2E Zornitza Stark reviewed gene: KMT2E: Rating: GREEN; Mode of pathogenicity: None; Publications: 31079897; Phenotypes: O'Donnell-Luria-Rodan syndrome, MIM# 618512, Intellectual disability, Autism, Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.655 KMT2E Zornitza Stark Phenotypes for gene: KMT2E were changed from Intellectual disability; Autism; Seizures to O'Donnell-Luria-Rodan syndrome, MIM# 618512; Intellectual disability; Autism; Seizures
Genetic Epilepsy v0.654 KMT2E Zornitza Stark edited their review of gene: KMT2E: Added comment: Epilepsy was present in about one-fifth of individuals with truncating variants and was responsive to treatment with anti-epileptic medications in almost all. The four individuals with missense variants presented with the most severe developmental delays. Epilepsy was present in all individuals with missense variants, often manifesting as treatment-resistant infantile epileptic encephalopathy. Haploinsufficiency versus gain-of-function or dominant-negative effects specific to these missense variants in KMT2E postulated to explain this divergence in phenotype.; Changed phenotypes: O'Donnell-Luria-Rodan syndrome, MIM# 618512, Intellectual disability, Autism, Seizures
Mendeliome v0.2272 KMT2E Zornitza Stark reviewed gene: KMT2E: Rating: GREEN; Mode of pathogenicity: None; Publications: 31079897; Phenotypes: O'Donnell-Luria-Rodan syndrome, MIM# 618512; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2272 KMT2E Zornitza Stark Marked gene: KMT2E as ready
Mendeliome v0.2272 KMT2E Zornitza Stark Gene: kmt2e has been classified as Green List (High Evidence).
Mendeliome v0.2272 KMT2E Zornitza Stark Publications for gene: KMT2E were set to
Mendeliome v0.2271 KMT2E Zornitza Stark Phenotypes for gene: KMT2E were changed from to O'Donnell-Luria-Rodan syndrome, MIM# 618512
Mendeliome v0.2270 KMT2E Zornitza Stark Mode of inheritance for gene: KMT2E was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2269 MACF1 Zornitza Stark Marked gene: MACF1 as ready
Mendeliome v0.2269 MACF1 Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence).
Mendeliome v0.2269 MAP1B Zornitza Stark Marked gene: MAP1B as ready
Mendeliome v0.2269 MAP1B Zornitza Stark Gene: map1b has been classified as Green List (High Evidence).
Mendeliome v0.2269 MAP1B Zornitza Stark Phenotypes for gene: MAP1B were changed from to Intellectual disability; seizures; PVNH; dysmorphic features
Mendeliome v0.2268 MAP1B Zornitza Stark Publications for gene: MAP1B were set to
Mendeliome v0.2267 MAP1B Zornitza Stark Mode of inheritance for gene: MAP1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2266 MAP3K20 Zornitza Stark Marked gene: MAP3K20 as ready
Mendeliome v0.2266 MAP3K20 Zornitza Stark Gene: map3k20 has been classified as Green List (High Evidence).
Mendeliome v0.2266 MAP3K7 Zornitza Stark Marked gene: MAP3K7 as ready
Mendeliome v0.2266 MAP3K7 Zornitza Stark Gene: map3k7 has been classified as Green List (High Evidence).
Mendeliome v0.2266 MAP3K7 Zornitza Stark Phenotypes for gene: MAP3K7 were changed from to Cardiospondylocarpofacial syndrome 157800 AD; Frontometaphyseal dysplasia 2 617137 AD
Mendeliome v0.2265 MAP3K7 Zornitza Stark Publications for gene: MAP3K7 were set to
Mendeliome v0.2264 MAP3K7 Zornitza Stark Mode of pathogenicity for gene: MAP3K7 was changed from to Other
Mendeliome v0.2263 MAP3K7 Zornitza Stark Mode of inheritance for gene: MAP3K7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2262 MARS2 Zornitza Stark Marked gene: MARS2 as ready
Mendeliome v0.2262 MARS2 Zornitza Stark Gene: mars2 has been classified as Green List (High Evidence).
Mendeliome v0.2262 MARS2 Zornitza Stark Phenotypes for gene: MARS2 were changed from to Combined oxidative phosphorylation deficiency 25, OMIM #616430; Spastic ataxia 3, autosomal recessive, OMIM #611390
Mendeliome v0.2261 MARS2 Zornitza Stark Publications for gene: MARS2 were set to
Mendeliome v0.2260 MARS2 Zornitza Stark Mode of inheritance for gene: MARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2259 MARS2 Zornitza Stark edited their review of gene: MARS2: Changed rating: GREEN; Changed publications: 25754315, 16672289
Mendeliome v0.2259 MARS2 Zornitza Stark changed review comment from: 1 family with 2 sibs with combined oxidative phosphorylation deficiency-25 (with ID) with compound heterozygous mutations in the MARS2 gene. Patient fibroblasts showed decreased activities of mitochondrial complexes I and IV, consistent with a mitochondrial translation defect. Immunoblot analysis showed reduced MARS2 protein levels as well as reduced levels of selected subunits of complexes I and IV.; to: 1 family with 2 sibs with combined oxidative phosphorylation deficiency-25 (with ID) with compound heterozygous mutations in the MARS2 gene. Patient fibroblasts showed decreased activities of mitochondrial complexes I and IV, consistent with a mitochondrial translation defect. Immunoblot analysis showed reduced MARS2 protein levels as well as reduced levels of selected subunits of complexes I and IV. Spastic ataxia association: note complex chromosomal rearrangements rather than SNVs reported in group of 54 French Canadians.
Mendeliome v0.2259 MECOM Zornitza Stark Marked gene: MECOM as ready
Mendeliome v0.2259 MECOM Zornitza Stark Gene: mecom has been classified as Green List (High Evidence).
Mendeliome v0.2259 MECOM Zornitza Stark Phenotypes for gene: MECOM were changed from to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM#616738
Mendeliome v0.2258 MECOM Zornitza Stark Publications for gene: MECOM were set to
Mendeliome v0.2257 MECOM Zornitza Stark Mode of inheritance for gene: MECOM was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2256 MED17 Zornitza Stark Marked gene: MED17 as ready
Mendeliome v0.2256 MED17 Zornitza Stark Gene: med17 has been classified as Green List (High Evidence).
Mendeliome v0.2256 MED17 Zornitza Stark Phenotypes for gene: MED17 were changed from to Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM#613668
Mendeliome v0.2255 MED17 Zornitza Stark Publications for gene: MED17 were set to
Mendeliome v0.2254 MED17 Zornitza Stark Mode of inheritance for gene: MED17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2253 MTHFS Zornitza Stark Marked gene: MTHFS as ready
Mendeliome v0.2253 MTHFS Zornitza Stark Gene: mthfs has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.32 NEBL Zornitza Stark Marked gene: NEBL as ready
Dilated Cardiomyopathy v0.32 NEBL Zornitza Stark Gene: nebl has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.32 NEBL Zornitza Stark Classified gene: NEBL as Green List (high evidence)
Dilated Cardiomyopathy v0.32 NEBL Zornitza Stark Gene: nebl has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.31 NEBL Zornitza Stark gene: NEBL was added
gene: NEBL was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: NEBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NEBL were set to 27186169
Phenotypes for gene: NEBL were set to Hypertrophic cardiomyopathy; dilated cardiomyopathy
Review for gene: NEBL was set to GREEN
Added comment: 7 patients from 6 unrelated families described with missense variants in this gene; some with HOCM, some with DCM.
Sources: Literature
Hypertrophic cardiomyopathy v0.20 NEBL Zornitza Stark Marked gene: NEBL as ready
Hypertrophic cardiomyopathy v0.20 NEBL Zornitza Stark Gene: nebl has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v0.20 NEBL Zornitza Stark Classified gene: NEBL as Green List (high evidence)
Hypertrophic cardiomyopathy v0.20 NEBL Zornitza Stark Gene: nebl has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v0.19 NEBL Zornitza Stark gene: NEBL was added
gene: NEBL was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature
Mode of inheritance for gene: NEBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NEBL were set to 27186169
Phenotypes for gene: NEBL were set to Hypertrophic cardiomyopathy; dilated cardiomyopathy
Review for gene: NEBL was set to GREEN
Added comment: 7 individuals from 6 unrelated families described with missense variants in this gene; some with HOCM, some with DCM.
Sources: Literature
Mendeliome v0.2253 NEBL Zornitza Stark Marked gene: NEBL as ready
Mendeliome v0.2253 NEBL Zornitza Stark Gene: nebl has been classified as Green List (High Evidence).
Mendeliome v0.2253 NEBL Zornitza Stark Phenotypes for gene: NEBL were changed from to Hypertrophic cardiomyopathy; dilated cardiomyopathy
Mendeliome v0.2252 NEBL Zornitza Stark Publications for gene: NEBL were set to
Mendeliome v0.2251 NEBL Zornitza Stark Mode of inheritance for gene: NEBL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2250 NPHP3 Zornitza Stark Marked gene: NPHP3 as ready
Mendeliome v0.2250 NPHP3 Zornitza Stark Gene: nphp3 has been classified as Green List (High Evidence).
Mendeliome v0.2250 NPHP3 Zornitza Stark Phenotypes for gene: NPHP3 were changed from to Meckel syndrome 7, MIM# 267010; Nephronophthisis 3, MIM# 604387; Renal-hepatic-pancreatic dysplasia 1, MIM# 208540
Mendeliome v0.2249 NPHP3 Zornitza Stark Mode of inheritance for gene: NPHP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2248 NPHP3 Zornitza Stark reviewed gene: NPHP3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Meckel syndrome 7, MIM# 267010, Nephronophthisis 3, MIM# 604387, Renal-hepatic-pancreatic dysplasia 1, MIM# 208540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2248 NR2E1 Zornitza Stark Marked gene: NR2E1 as ready
Mendeliome v0.2248 NR2E1 Zornitza Stark Gene: nr2e1 has been classified as Red List (Low Evidence).
Mendeliome v0.2248 NR2E1 Zornitza Stark Classified gene: NR2E1 as Red List (low evidence)
Mendeliome v0.2248 NR2E1 Zornitza Stark Gene: nr2e1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2522 NRROS Zornitza Stark Marked gene: NRROS as ready
Intellectual disability syndromic and non-syndromic v0.2522 NRROS Zornitza Stark Gene: nrros has been classified as Green List (High Evidence).
Regression v0.105 NRROS Zornitza Stark Marked gene: NRROS as ready
Regression v0.105 NRROS Zornitza Stark Gene: nrros has been classified as Green List (High Evidence).
Mendeliome v0.2247 NRROS Zornitza Stark Marked gene: NRROS as ready
Mendeliome v0.2247 NRROS Zornitza Stark Gene: nrros has been classified as Green List (High Evidence).
Mendeliome v0.2247 NUP214 Zornitza Stark Marked gene: NUP214 as ready
Mendeliome v0.2247 NUP214 Zornitza Stark Gene: nup214 has been classified as Green List (High Evidence).
Mendeliome v0.2247 NUP214 Zornitza Stark Phenotypes for gene: NUP214 were changed from epileptic encephalopathy; developmental regression; microcephaly to Encephalopathy, acute, infection-induced, susceptibility to, 9, MIM# 618426; epileptic encephalopathy; developmental regression; microcephaly
Mendeliome v0.2246 NXN Zornitza Stark Marked gene: NXN as ready
Mendeliome v0.2246 NXN Zornitza Stark Gene: nxn has been classified as Green List (High Evidence).
Mendeliome v0.2246 PAX1 Zornitza Stark changed review comment from: Note recent report of 6 individuals from three unrelated families with prominent immunological phenotype.; to: Note additional recent report of 6 individuals from three unrelated families with prominent immunological phenotype.
Mendeliome v0.2246 PAX1 Zornitza Stark reviewed gene: PAX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32111619; Phenotypes: Otofaciocervical syndrome 2, MIM#615560, Syndromic SCID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2246 PAX1 Zornitza Stark Marked gene: PAX1 as ready
Mendeliome v0.2246 PAX1 Zornitza Stark Gene: pax1 has been classified as Green List (High Evidence).
Mendeliome v0.2246 PAX1 Zornitza Stark Phenotypes for gene: PAX1 were changed from to Otofaciocervical syndrome 2, MIM#615560; Syndromic SCID
Mendeliome v0.2245 PAX1 Zornitza Stark Publications for gene: PAX1 were set to 29681087; 28657137; 23851939
Mendeliome v0.2244 PAX1 Zornitza Stark Publications for gene: PAX1 were set to
Mendeliome v0.2243 PAX1 Zornitza Stark Mode of inheritance for gene: PAX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2242 PDE8B Zornitza Stark Marked gene: PDE8B as ready
Mendeliome v0.2242 PDE8B Zornitza Stark Gene: pde8b has been classified as Green List (High Evidence).
Mendeliome v0.2242 PDE8B Zornitza Stark Phenotypes for gene: PDE8B were changed from to Striatal degeneration, autosomal dominant, MIM#609161
Mendeliome v0.2241 PDE8B Zornitza Stark Publications for gene: PDE8B were set to
Mendeliome v0.2240 PDE8B Zornitza Stark Mode of inheritance for gene: PDE8B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2239 ANLN Zornitza Stark Marked gene: ANLN as ready
Mendeliome v0.2239 ANLN Zornitza Stark Gene: anln has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2239 ANLN Zornitza Stark Phenotypes for gene: ANLN were changed from to Focal segmental glomerulosclerosis 8, OMIM #616032
Mendeliome v0.2238 ANLN Zornitza Stark Publications for gene: ANLN were set to
Mendeliome v0.2237 PIGG Zornitza Stark Marked gene: PIGG as ready
Mendeliome v0.2237 PIGG Zornitza Stark Gene: pigg has been classified as Green List (High Evidence).
Mendeliome v0.2237 PIGG Zornitza Stark Phenotypes for gene: PIGG were changed from to Mental retardation, autosomal recessive 53, MIM#616917
Mendeliome v0.2236 PIGG Zornitza Stark Publications for gene: PIGG were set to
Mendeliome v0.2235 PIGG Zornitza Stark Mode of inheritance for gene: PIGG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2234 PIGU Zornitza Stark Marked gene: PIGU as ready
Mendeliome v0.2234 PIGU Zornitza Stark Gene: pigu has been classified as Green List (High Evidence).
Mendeliome v0.2234 PIGU Zornitza Stark Phenotypes for gene: PIGU were changed from to Glycosylphosphatidylinositol biosynthesis defect 21; OMIM #618590
Mendeliome v0.2233 PIGU Zornitza Stark Publications for gene: PIGU were set to
Mendeliome v0.2232 PIGU Zornitza Stark Mode of inheritance for gene: PIGU was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2231 PUS3 Zornitza Stark Marked gene: PUS3 as ready
Mendeliome v0.2231 PUS3 Zornitza Stark Gene: pus3 has been classified as Green List (High Evidence).
Mendeliome v0.2231 PUS3 Zornitza Stark Phenotypes for gene: PUS3 were changed from to Mental retardation, autosomal recessive 55, MIM# 617051
Mendeliome v0.2230 PUS3 Zornitza Stark Publications for gene: PUS3 were set to
Mendeliome v0.2229 PUS3 Zornitza Stark Mode of inheritance for gene: PUS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2522 RUBCN Zornitza Stark Mode of inheritance for gene: RUBCN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2521 RUBCN Zornitza Stark edited their review of gene: RUBCN: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2228 RUBCN Zornitza Stark Marked gene: RUBCN as ready
Mendeliome v0.2228 RUBCN Zornitza Stark Gene: rubcn has been classified as Green List (High Evidence).
Mendeliome v0.2228 RUBCN Zornitza Stark Phenotypes for gene: RUBCN were changed from to Spinocerebellar ataxia, autosomal recessive 15, MIM#615705
Mendeliome v0.2227 RUBCN Zornitza Stark Publications for gene: RUBCN were set to
Autism v0.83 SHANK2 Zornitza Stark Marked gene: SHANK2 as ready
Autism v0.83 SHANK2 Zornitza Stark Gene: shank2 has been classified as Green List (High Evidence).
Mendeliome v0.2226 RUBCN Zornitza Stark Mode of inheritance for gene: RUBCN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Autism v0.83 SHANK2 Zornitza Stark Phenotypes for gene: SHANK2 were changed from to {Autism susceptibility 17}, MIM#613436; Autism spectrum disorder with or without intellectual disability
Autism v0.82 SHANK2 Zornitza Stark Publications for gene: SHANK2 were set to
Autism v0.81 SHANK2 Zornitza Stark Mode of inheritance for gene: SHANK2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.80 SHANK2 Zornitza Stark reviewed gene: SHANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30072871, 30911184, 20473310; Phenotypes: {Autism susceptibility 17}, Autism spectrum disorder with or without intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2225 SHANK2 Zornitza Stark Marked gene: SHANK2 as ready
Mendeliome v0.2225 SHANK2 Zornitza Stark Added comment: Comment when marking as ready: Reports of CNVs, LoF variants, and missense variants in this gene, generally ascertained in autism cohorts. Some de novo and others inherited from parents with a range of neuropsychiatric phenotypes.
Mendeliome v0.2225 SHANK2 Zornitza Stark Gene: shank2 has been classified as Green List (High Evidence).
Mendeliome v0.2225 SHANK2 Zornitza Stark Phenotypes for gene: SHANK2 were changed from to {Autism susceptibility 17}; Autism spectrum disorder with or without intellectual disability
Mendeliome v0.2224 SHANK2 Zornitza Stark Publications for gene: SHANK2 were set to
Mendeliome v0.2223 SHANK2 Zornitza Stark Mode of inheritance for gene: SHANK2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2222 SLC26A4 Zornitza Stark Marked gene: SLC26A4 as ready
Mendeliome v0.2222 SLC26A4 Zornitza Stark Gene: slc26a4 has been classified as Green List (High Evidence).
Mendeliome v0.2222 SLC26A4 Zornitza Stark Phenotypes for gene: SLC26A4 were changed from to Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 600791; Pendred syndrome 274600
Mendeliome v0.2221 SLC26A4 Zornitza Stark Publications for gene: SLC26A4 were set to
Mendeliome v0.2220 SLC26A4 Zornitza Stark Mode of inheritance for gene: SLC26A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2219 SMPD4 Zornitza Stark Marked gene: SMPD4 as ready
Mendeliome v0.2219 SMPD4 Zornitza Stark Gene: smpd4 has been classified as Green List (High Evidence).
Mendeliome v0.2219 SMPD4 Zornitza Stark Phenotypes for gene: SMPD4 were changed from to Severe neurodevelopmental delay, microcephaly, arthrogryposis
Mendeliome v0.2218 SMPD4 Zornitza Stark Publications for gene: SMPD4 were set to
Mendeliome v0.2217 SMPD4 Zornitza Stark Mode of inheritance for gene: SMPD4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2216 SOX11 Zornitza Stark Marked gene: SOX11 as ready
Mendeliome v0.2216 SOX11 Zornitza Stark Gene: sox11 has been classified as Green List (High Evidence).
Mendeliome v0.2216 SOX11 Zornitza Stark Phenotypes for gene: SOX11 were changed from to Coffin-Siris syndrome 9, MIM# 615866; Congenital abnormalities of the kidneys and urinary tract
Mendeliome v0.2215 SOX11 Zornitza Stark Publications for gene: SOX11 were set to
Mendeliome v0.2214 SOX11 Zornitza Stark Mode of inheritance for gene: SOX11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2213 SOX11 Zornitza Stark changed review comment from: Heterozygous variant in a patient with Coffin-Siris like syndrome and small kidney; but also rare variants identified in a non-syndromic CAKUT cohort with some functional data.
Sources: Expert list; to: Coffin-Siris syndrome: two individuals with de novo mono-allelic missense variants in this gene, mouse model.
CAKUT: Heterozygous variant in a patient with Coffin-Siris like syndrome and small kidney; but also rare variants identified in a non-syndromic CAKUT cohort with some functional data.
Sources: Expert list
Mendeliome v0.2213 SOX11 Zornitza Stark edited their review of gene: SOX11: Changed rating: GREEN; Changed phenotypes: Coffin-Siris syndrome 9, MIM# 615866, Congenital abnormalities of the kidneys and urinary tract
Mendeliome v0.2213 ADAM22 Zornitza Stark Marked gene: ADAM22 as ready
Mendeliome v0.2213 ADAM22 Zornitza Stark Gene: adam22 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2213 ADAM22 Zornitza Stark Classified gene: ADAM22 as Amber List (moderate evidence)
Mendeliome v0.2213 ADAM22 Zornitza Stark Gene: adam22 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2212 NDUFA12 Zornitza Stark Marked gene: NDUFA12 as ready
Mendeliome v0.2212 NDUFA12 Zornitza Stark Gene: ndufa12 has been classified as Red List (Low Evidence).
Mendeliome v0.2212 HOXB6 Zornitza Stark Classified gene: HOXB6 as Amber List (moderate evidence)
Mendeliome v0.2212 HOXB6 Zornitza Stark Gene: hoxb6 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.360 UQCRB Zornitza Stark Marked gene: UQCRB as ready
Mitochondrial disease v0.360 UQCRB Zornitza Stark Gene: uqcrb has been classified as Green List (High Evidence).
Mitochondrial disease v0.360 UQCRB Zornitza Stark Phenotypes for gene: UQCRB were changed from to Mitochondrial complex III deficiency, nuclear type 3, MIM# 615158
Mitochondrial disease v0.359 UQCRB Zornitza Stark Publications for gene: UQCRB were set to
Mitochondrial disease v0.358 UQCRB Zornitza Stark Mode of inheritance for gene: UQCRB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.357 UQCRB Zornitza Stark edited their review of gene: UQCRB: Added comment: Three families, two had the same variant. Functional data.; Changed publications: 23281071, 28275242, 12709789, 25446085, 23454382
Mitochondrial disease v0.357 UQCRB Zornitza Stark reviewed gene: UQCRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 23281071, 28275242, 12709789; Phenotypes: Mitochondrial complex III deficiency, nuclear type 3, MIM# 615158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.357 TRAK1 Zornitza Stark Marked gene: TRAK1 as ready
Mitochondrial disease v0.357 TRAK1 Zornitza Stark Gene: trak1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.357 TRAK1 Zornitza Stark Classified gene: TRAK1 as Green List (high evidence)
Mitochondrial disease v0.357 TRAK1 Zornitza Stark Gene: trak1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.356 TRAK1 Zornitza Stark gene: TRAK1 was added
gene: TRAK1 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: TRAK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAK1 were set to 28940097; 28364549; 29846532; 28924745
Phenotypes for gene: TRAK1 were set to Epileptic encephalopathy, early infantile, 68, MIM# 618201
Review for gene: TRAK1 was set to GREEN
Added comment: Six unrelated families reported with EE/ID phenotype. PMID 28924745 provides evidence that TRAK1 is a regulator of mitochondrial fusion.
Sources: Expert list
Mitochondrial disease v0.355 SDHB Zornitza Stark changed review comment from: Four unrelated families reported. Note in one family, one sibling was asymptomatic and most of her investigations were normal (borderline abnormality of thalami on MRI brain). Although the variant was postulated to be hypomorphic, this does raise the question of whether it truly segregated with disease.; to: Four unrelated families reported. Note in one family (PMID: 26925370), one sibling was asymptomatic and most of her investigations were normal (borderline abnormality of thalami on MRI brain). Although the variant was postulated to be hypomorphic, this does raise the question of whether it truly segregated with disease.
Mitochondrial disease v0.355 SDHB Zornitza Stark Publications for gene: SDHB were set to 22972948; 26925370
Mitochondrial disease v0.354 SDHB Zornitza Stark Classified gene: SDHB as Green List (high evidence)
Mitochondrial disease v0.354 SDHB Zornitza Stark Gene: sdhb has been classified as Green List (High Evidence).
Mitochondrial disease v0.353 SDHB Zornitza Stark edited their review of gene: SDHB: Changed rating: GREEN
Mitochondrial disease v0.353 SDHB Zornitza Stark changed review comment from: Two unrelated families reported. Note in second family, one sibling was asymptomatic and most of her investigations were normal (borderline abnormality of thalami on MRI brain). Although the variant was postulated to be hypomorphic, this does raise the question of whether it truly segregated with disease.; to: Four unrelated families reported. Note in one family, one sibling was asymptomatic and most of her investigations were normal (borderline abnormality of thalami on MRI brain). Although the variant was postulated to be hypomorphic, this does raise the question of whether it truly segregated with disease.
Mitochondrial disease v0.353 SDHB Zornitza Stark edited their review of gene: SDHB: Changed publications: 22972948, 26925370, 27604842
Mendeliome v0.2211 QRSL1 Zornitza Stark Marked gene: QRSL1 as ready
Mendeliome v0.2211 QRSL1 Zornitza Stark Gene: qrsl1 has been classified as Green List (High Evidence).
Mendeliome v0.2211 QRSL1 Zornitza Stark Phenotypes for gene: QRSL1 were changed from to Combined oxidative phosphorylation deficiency 40
Mendeliome v0.2210 QRSL1 Zornitza Stark Publications for gene: QRSL1 were set to
Mendeliome v0.2209 QRSL1 Zornitza Stark Mode of inheritance for gene: QRSL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2208 QRSL1 Zornitza Stark reviewed gene: QRSL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26741492, 29440775, 30283131, 30642647; Phenotypes: Combined oxidative phosphorylation deficiency 40; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.353 QRSL1 Zornitza Stark Marked gene: QRSL1 as ready
Mitochondrial disease v0.353 QRSL1 Zornitza Stark Gene: qrsl1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.353 QRSL1 Zornitza Stark Phenotypes for gene: QRSL1 were changed from to Combined oxidative phosphorylation deficiency 40
Mitochondrial disease v0.352 QRSL1 Zornitza Stark Publications for gene: QRSL1 were set to
Mitochondrial disease v0.351 QRSL1 Zornitza Stark Mode of inheritance for gene: QRSL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.350 QRSL1 Zornitza Stark reviewed gene: QRSL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26741492, 29440775, 30283131, 30642647; Phenotypes: Combined oxidative phosphorylation deficiency 40; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.350 PPCS Zornitza Stark Marked gene: PPCS as ready
Mitochondrial disease v0.350 PPCS Zornitza Stark Gene: ppcs has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.350 PPCS Zornitza Stark Classified gene: PPCS as Amber List (moderate evidence)
Mitochondrial disease v0.350 PPCS Zornitza Stark Gene: ppcs has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2208 PPCS Zornitza Stark Marked gene: PPCS as ready
Mendeliome v0.2208 PPCS Zornitza Stark Gene: ppcs has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2208 PPCS Zornitza Stark Phenotypes for gene: PPCS were changed from to Cardiomyopathy, dilated, 2C, MIM# 618189
Mendeliome v0.2207 PPCS Zornitza Stark Publications for gene: PPCS were set to
Rhabdomyolysis and Metabolic Myopathy v0.14 ETFB Bryony Thompson Classified gene: ETFB as Amber List (moderate evidence)
Rhabdomyolysis and Metabolic Myopathy v0.14 ETFB Bryony Thompson Gene: etfb has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2206 PPCS Zornitza Stark Mode of inheritance for gene: PPCS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2205 PPCS Zornitza Stark Classified gene: PPCS as Amber List (moderate evidence)
Mendeliome v0.2205 PPCS Zornitza Stark Gene: ppcs has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.30 PPCS Zornitza Stark changed review comment from: Five individuals from two unrelated families reported with missense variants. Functional studies in yeast to demonstrate impact of the variants on protein but not aimed at establishing gene-disease causation.
Sources: Expert list; to: Five individuals from two unrelated families reported with missense variants. Functional studies in yeast to demonstrate impact of the variants on protein; cardiac dysfunction in Drosophila model.
Sources: Expert list
Rhabdomyolysis and Metabolic Myopathy v0.13 ACADM Bryony Thompson Classified gene: ACADM as Green List (high evidence)
Rhabdomyolysis and Metabolic Myopathy v0.13 ACADM Bryony Thompson Gene: acadm has been classified as Green List (High Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.12 ACADM Bryony Thompson changed review comment from: Rhabdomyolysis can be a prominent feature of cases with MCAD deficiency.; to: Rhabdomyolysis can be a prominent feature of cases with MCAD deficiency. >3 cases reported.
Rhabdomyolysis and Metabolic Myopathy v0.12 ACADM Bryony Thompson edited their review of gene: ACADM: Added comment: Rhabdomyolysis can be a prominent feature of cases with MCAD deficiency.; Changed rating: GREEN; Changed publications: 7876853, 12897989, 20049534
Mendeliome v0.2204 PPCS Zornitza Stark changed review comment from: Five individuals from two unrelated families reported with missense variants. Functional studies in yeast to demonstrate impact of the variants on protein but not aimed at establishing gene-disease causation.; to: Five individuals from two unrelated families reported with missense variants. Functional studies in yeast to demonstrate impact of the variants on protein and cardiac dysfunction observed in Drosophila model.
Mitochondrial disease v0.349 PPCS Zornitza Stark gene: PPCS was added
gene: PPCS was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: PPCS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPCS were set to 29754768
Phenotypes for gene: PPCS were set to Cardiomyopathy, dilated, 2C, MIM# 618189
Review for gene: PPCS was set to AMBER
Added comment: Five individuals from two unrelated families reported with missense variants. Functional studies in yeast to demonstrate impact of the variants on protein and cardiac dysfunction observed in Drosophila model.
Sources: Expert list
Rhabdomyolysis and Metabolic Myopathy v0.12 ACADM Bryony Thompson Deleted their comment
Mendeliome v0.2204 PPCS Zornitza Stark reviewed gene: PPCS: Rating: AMBER; Mode of pathogenicity: None; Publications: 29754768; Phenotypes: Cardiomyopathy, dilated, 2C, MIM# 618189; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy v0.30 PPCS Zornitza Stark Marked gene: PPCS as ready
Dilated Cardiomyopathy v0.30 PPCS Zornitza Stark Gene: ppcs has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.30 PPCS Zornitza Stark Classified gene: PPCS as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.30 PPCS Zornitza Stark Gene: ppcs has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.29 PPCS Zornitza Stark gene: PPCS was added
gene: PPCS was added to Dilated Cardiomyopathy. Sources: Expert list
Mode of inheritance for gene: PPCS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPCS were set to 29754768
Phenotypes for gene: PPCS were set to Cardiomyopathy, dilated, 2C, MIM# 618189
Review for gene: PPCS was set to AMBER
Added comment: Five individuals from two unrelated families reported with missense variants. Functional studies in yeast to demonstrate impact of the variants on protein but not aimed at establishing gene-disease causation.
Sources: Expert list
Mendeliome v0.2204 PET117 Zornitza Stark Marked gene: PET117 as ready
Mendeliome v0.2204 PET117 Zornitza Stark Gene: pet117 has been classified as Red List (Low Evidence).
Mendeliome v0.2204 PET117 Zornitza Stark gene: PET117 was added
gene: PET117 was added to Mendeliome. Sources: Expert list
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; Regression; Complex IV deficiency
Review for gene: PET117 was set to RED
Added comment: Two siblings reported, some functional data. PET117 postulated to be a Complex IV assembly factor.
Sources: Expert list
Cutis Laxa v0.1 Bryony Thompson Panel status changed from internal to public
Panel types changed to Royal Melbourne Hospital; Rare Disease
Microcephaly v0.109 NUP188 Zornitza Stark Phenotypes for gene: NUP188 were changed from microcephaly; ID; cataract to microcephaly; ID; cataract; structural brain abnormalities; hypoventilation
Microcephaly v0.108 NUP188 Zornitza Stark Publications for gene: NUP188 were set to https://doi.org/10.1159/000504818; 28726809
Microcephaly v0.107 NUP188 Zornitza Stark Classified gene: NUP188 as Green List (high evidence)
Microcephaly v0.107 NUP188 Zornitza Stark Gene: nup188 has been classified as Green List (High Evidence).
Microcephaly v0.106 NUP188 Zornitza Stark edited their review of gene: NUP188: Added comment: Additional 6 unrelated individuals with bi-allelic LoF variants reported, promoted to Green.; Changed rating: GREEN; Changed publications: 32021605, 28726809, 32275884; Changed phenotypes: microcephaly, ID, cataract, structural brain abnormalities, hypoventilation
Mendeliome v0.2203 NUP188 Zornitza Stark Phenotypes for gene: NUP188 were changed from microcephaly; ID; cataract to microcephaly; ID; cataract; structural brain abnormalities; hypoventilation
Mendeliome v0.2202 NUP188 Zornitza Stark Publications for gene: NUP188 were set to https://doi.org/10.1159/000504818; 28726809
Mendeliome v0.2201 NUP188 Zornitza Stark Classified gene: NUP188 as Green List (high evidence)
Mendeliome v0.2201 NUP188 Zornitza Stark Gene: nup188 has been classified as Green List (High Evidence).
Mendeliome v0.2200 NUP188 Zornitza Stark edited their review of gene: NUP188: Added comment: Additional 6 unrelated individuals with bi-allelic LoF variants reported, promoted to Green.; Changed rating: GREEN; Changed publications: 32021605, 28726809, 32275884; Changed phenotypes: microcephaly, ID, cataract, structural brain abnormalities, hypoventilation
Cataract v0.110 NUP188 Zornitza Stark Phenotypes for gene: NUP188 were changed from microcephaly; ID; cataract to microcephaly; ID; cataract; structural brain abnormalities; hypoventilation
Cataract v0.109 NUP188 Zornitza Stark Publications for gene: NUP188 were set to https://doi.org/10.1159/000504818; 28726809
Cataract v0.108 NUP188 Zornitza Stark Classified gene: NUP188 as Green List (high evidence)
Cataract v0.108 NUP188 Zornitza Stark Gene: nup188 has been classified as Green List (High Evidence).
Cataract v0.107 NUP188 Zornitza Stark edited their review of gene: NUP188: Added comment: Additional 6 unrelated individuals with bi-allelic LoF variants reported, promoted to Green.; Changed rating: GREEN; Changed publications: 32021605, 28726809, 32275884; Changed phenotypes: microcephaly, ID, cataract, structural brain abnormalities, hypoventilation
Intellectual disability syndromic and non-syndromic v0.2521 NUP188 Zornitza Stark Phenotypes for gene: NUP188 were changed from microcephaly; ID; cataract to microcephaly; ID; cataract; structural brain abnormalities; hypoventilation
Intellectual disability syndromic and non-syndromic v0.2520 NUP188 Zornitza Stark Publications for gene: NUP188 were set to https://doi.org/10.1159/000504818; 28726809
Intellectual disability syndromic and non-syndromic v0.2519 NUP188 Zornitza Stark Classified gene: NUP188 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2519 NUP188 Zornitza Stark Gene: nup188 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2518 NUP188 Zornitza Stark changed review comment from: Additional 6 unrelated individuals reported, promoted to Green.; to: Additional 6 unrelated individuals with bi-allelic LoF variants reported, promoted to Green.
Intellectual disability syndromic and non-syndromic v0.2518 NUP188 Zornitza Stark edited their review of gene: NUP188: Added comment: Additional 6 unrelated individuals reported, promoted to Green.; Changed rating: GREEN; Changed publications: 32021605, 28726809, 32275884; Changed phenotypes: microcephaly, ID, cataract, structural brain abnormalities, hypoventilation
Mendeliome v0.2200 TMTC2 Zornitza Stark Marked gene: TMTC2 as ready
Mendeliome v0.2200 TMTC2 Zornitza Stark Gene: tmtc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2200 TMTC2 Zornitza Stark Phenotypes for gene: TMTC2 were changed from to Deafness
Mendeliome v0.2199 TMTC2 Zornitza Stark Publications for gene: TMTC2 were set to
Mendeliome v0.2198 TBCD Zornitza Stark Marked gene: TBCD as ready
Mendeliome v0.2198 TBCD Zornitza Stark Gene: tbcd has been classified as Green List (High Evidence).
Mendeliome v0.2198 TBCD Zornitza Stark Phenotypes for gene: TBCD were changed from to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193
Mendeliome v0.2197 TBCD Zornitza Stark Publications for gene: TBCD were set to
Mendeliome v0.2196 TBCD Zornitza Stark Mode of inheritance for gene: TBCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2195 TMTC2 Zornitza Stark Mode of inheritance for gene: TMTC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2194 TMTC2 Zornitza Stark Classified gene: TMTC2 as Amber List (moderate evidence)
Mendeliome v0.2194 TMTC2 Zornitza Stark Gene: tmtc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2193 UMOD Zornitza Stark Marked gene: UMOD as ready
Mendeliome v0.2193 UMOD Zornitza Stark Gene: umod has been classified as Green List (High Evidence).
Mendeliome v0.2193 TOR1AIP1 Zornitza Stark Marked gene: TOR1AIP1 as ready
Mendeliome v0.2193 TOR1AIP1 Zornitza Stark Gene: tor1aip1 has been classified as Green List (High Evidence).
Mendeliome v0.2193 UPK3A Zornitza Stark Marked gene: UPK3A as ready
Mendeliome v0.2193 UPK3A Zornitza Stark Gene: upk3a has been classified as Red List (Low Evidence).
Mendeliome v0.2193 UMOD Zornitza Stark Phenotypes for gene: UMOD were changed from to Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886; Hyperuricemic nephropathy, familial juvenile 1 162000; Medullary cystic kidney disease 2 603860
Mendeliome v0.2192 UMOD Zornitza Stark reviewed gene: UMOD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886, Hyperuricemic nephropathy, familial juvenile 1 162000, Medullary cystic kidney disease 2 603860; Mode of inheritance: None
Mendeliome v0.2192 UPK3A Zornitza Stark Phenotypes for gene: UPK3A were changed from to CAKUT
Mendeliome v0.2191 UPK3A Zornitza Stark Publications for gene: UPK3A were set to
Mendeliome v0.2190 UPK3A Zornitza Stark Classified gene: UPK3A as Red List (low evidence)
Mendeliome v0.2190 UPK3A Zornitza Stark Gene: upk3a has been classified as Red List (Low Evidence).
Mendeliome v0.2189 VARS Zornitza Stark Marked gene: VARS as ready
Mendeliome v0.2189 VARS Zornitza Stark Gene: vars has been classified as Green List (High Evidence).
Mendeliome v0.2189 VARS Zornitza Stark Phenotypes for gene: VARS were changed from to Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy; OMIM #617802
Mendeliome v0.2188 WNT10A Zornitza Stark Marked gene: WNT10A as ready
Mendeliome v0.2188 WNT10A Zornitza Stark Gene: wnt10a has been classified as Green List (High Evidence).
Regression v0.105 ZNF592 Zornitza Stark Marked gene: ZNF592 as ready
Regression v0.105 ZNF592 Zornitza Stark Gene: znf592 has been classified as Red List (Low Evidence).
Mendeliome v0.2188 WNT10A Zornitza Stark Phenotypes for gene: WNT10A were changed from to Odontoonychodermal dysplasia; Schopf-Schulz-Passarge syndrome; Tooth agenesis, selective, 4
Mendeliome v0.2187 WNT10A Zornitza Stark Publications for gene: WNT10A were set to
Mendeliome v0.2186 WNT10A Zornitza Stark Mode of inheritance for gene: WNT10A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Regression v0.105 ZNF592 Zornitza Stark Phenotypes for gene: ZNF592 were changed from to SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5
Regression v0.104 ZNF592 Zornitza Stark Publications for gene: ZNF592 were set to
Regression v0.103 ZNF592 Zornitza Stark Mode of inheritance for gene: ZNF592 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.102 ZNF592 Zornitza Stark Classified gene: ZNF592 as Red List (low evidence)
Regression v0.102 ZNF592 Zornitza Stark Gene: znf592 has been classified as Red List (Low Evidence).
Mendeliome v0.2185 ZNF592 Zornitza Stark Marked gene: ZNF592 as ready
Mendeliome v0.2185 ZNF592 Zornitza Stark Gene: znf592 has been classified as Red List (Low Evidence).
Regression v0.101 ZNF592 Zornitza Stark reviewed gene: ZNF592: Rating: RED; Mode of pathogenicity: None; Publications: 20531441, 26123727; Phenotypes: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2185 ZNF592 Zornitza Stark Phenotypes for gene: ZNF592 were changed from to SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5
Mendeliome v0.2184 ZNF592 Zornitza Stark Mode of inheritance for gene: ZNF592 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2183 ZNF592 Zornitza Stark Publications for gene: ZNF592 were set to
Mendeliome v0.2182 ZNF592 Zornitza Stark Classified gene: ZNF592 as Red List (low evidence)
Mendeliome v0.2182 ZNF592 Zornitza Stark Gene: znf592 has been classified as Red List (Low Evidence).
Mendeliome v0.2181 CLIC5 Zornitza Stark Marked gene: CLIC5 as ready
Mendeliome v0.2181 CLIC5 Zornitza Stark Gene: clic5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2181 GNB2 Zornitza Stark Marked gene: GNB2 as ready
Mendeliome v0.2181 GNB2 Zornitza Stark Gene: gnb2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2181 MIR96 Zornitza Stark Marked gene: MIR96 as ready
Mendeliome v0.2181 MIR96 Zornitza Stark Gene: mir96 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2181 MYL1 Zornitza Stark Marked gene: MYL1 as ready
Mendeliome v0.2181 MYL1 Zornitza Stark Gene: myl1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2181 APOL1 Zornitza Stark Marked gene: APOL1 as ready
Mendeliome v0.2181 APOL1 Zornitza Stark Gene: apol1 has been classified as Red List (Low Evidence).
Mendeliome v0.2181 ARHGEF6 Zornitza Stark Marked gene: ARHGEF6 as ready
Mendeliome v0.2181 ARHGEF6 Zornitza Stark Gene: arhgef6 has been classified as Red List (Low Evidence).
Mendeliome v0.2181 CEP85L Zornitza Stark Marked gene: CEP85L as ready
Mendeliome v0.2181 CEP85L Zornitza Stark Gene: cep85l has been classified as Green List (High Evidence).
Mendeliome v0.2181 CEP85L Zornitza Stark Classified gene: CEP85L as Green List (high evidence)
Mendeliome v0.2181 CEP85L Zornitza Stark Gene: cep85l has been classified as Green List (High Evidence).
Mendeliome v0.2180 MIEF2 Zornitza Stark Marked gene: MIEF2 as ready
Mendeliome v0.2180 MIEF2 Zornitza Stark Gene: mief2 has been classified as Red List (Low Evidence).
Mendeliome v0.2180 POLE2 Zornitza Stark Marked gene: POLE2 as ready
Mendeliome v0.2180 POLE2 Zornitza Stark Gene: pole2 has been classified as Red List (Low Evidence).
Mendeliome v0.2180 PTCD1 Zornitza Stark Marked gene: PTCD1 as ready
Mendeliome v0.2180 PTCD1 Zornitza Stark Gene: ptcd1 has been classified as Red List (Low Evidence).
Mendeliome v0.2180 TFAM Zornitza Stark Marked gene: TFAM as ready
Mendeliome v0.2180 TFAM Zornitza Stark Gene: tfam has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2180 TFAM Zornitza Stark Classified gene: TFAM as Amber List (moderate evidence)
Mendeliome v0.2180 TFAM Zornitza Stark Gene: tfam has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2179 NME3 Zornitza Stark Marked gene: NME3 as ready
Mendeliome v0.2179 NME3 Zornitza Stark Gene: nme3 has been classified as Red List (Low Evidence).
Mendeliome v0.2179 NME3 Zornitza Stark gene: NME3 was added
gene: NME3 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: NME3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NME3 were set to 30587587
Phenotypes for gene: NME3 were set to Hypotonia; Neurodegeneration; Abnormal mitochondrial dynamics
Review for gene: NME3 was set to RED
Added comment: Single individual reported. NME3 is a mitochondrial outer-membrane protein capable of interacting with MFN1/2, and its depletion causes dysfunction in mitochondrial dynamics
Sources: Expert list
Mitochondrial disease v0.348 NME3 Zornitza Stark Marked gene: NME3 as ready
Mitochondrial disease v0.348 NME3 Zornitza Stark Gene: nme3 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.348 NME3 Zornitza Stark gene: NME3 was added
gene: NME3 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: NME3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NME3 were set to 30587587
Phenotypes for gene: NME3 were set to Hypotonia; Neurodegeneration; Abnormal mitochondrial dynamics
Review for gene: NME3 was set to RED
Added comment: Single individual reported. NME3 is a mitochondrial outer-membrane protein capable of interacting with MFN1/2, and its depletion causes dysfunction in mitochondrial dynamics.
Sources: Expert list
Mendeliome v0.2178 MRPS28 Zornitza Stark Marked gene: MRPS28 as ready
Mendeliome v0.2178 MRPS28 Zornitza Stark Gene: mrps28 has been classified as Red List (Low Evidence).
Mendeliome v0.2178 MRPS28 Zornitza Stark gene: MRPS28 was added
gene: MRPS28 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MRPS28 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS28 were set to 30566640
Phenotypes for gene: MRPS28 were set to Intrauterine growth retardation; developmental delay; dysmorphism
Review for gene: MRPS28 was set to RED
Added comment: Single individual reported.
Sources: Expert list
Mitochondrial disease v0.347 MRPS28 Zornitza Stark Marked gene: MRPS28 as ready
Mitochondrial disease v0.347 MRPS28 Zornitza Stark Gene: mrps28 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.347 MRPS28 Zornitza Stark gene: MRPS28 was added
gene: MRPS28 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: MRPS28 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS28 were set to 30566640
Phenotypes for gene: MRPS28 were set to Intrauterine growth retardation; developmental delay; dysmorphism
Review for gene: MRPS28 was set to RED
Added comment: Single individual reported.
Sources: Expert list
Mendeliome v0.2177 MRPS25 Zornitza Stark Marked gene: MRPS25 as ready
Mendeliome v0.2177 MRPS25 Zornitza Stark Gene: mrps25 has been classified as Red List (Low Evidence).
Mendeliome v0.2177 MRPS25 Zornitza Stark gene: MRPS25 was added
gene: MRPS25 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MRPS25 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS25 were set to 31039582
Phenotypes for gene: MRPS25 were set to Dyskinetic cerebral palsy; Mitochondrial myopathy; Partial agenesis of the corpus callosum
Review for gene: MRPS25 was set to RED
Added comment: Single individual reported.
Sources: Expert list
Mitochondrial disease v0.346 MRPS25 Zornitza Stark Marked gene: MRPS25 as ready
Mitochondrial disease v0.346 MRPS25 Zornitza Stark Gene: mrps25 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.346 MRPS25 Zornitza Stark gene: MRPS25 was added
gene: MRPS25 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: MRPS25 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS25 were set to 31039582
Phenotypes for gene: MRPS25 were set to Dyskinetic cerebral palsy; Mitochondrial myopathy; Partial agenesis of the corpus callosum
Review for gene: MRPS25 was set to RED
Added comment: Single individual reported.
Sources: Expert list
Mendeliome v0.2176 MRPS23 Zornitza Stark Phenotypes for gene: MRPS23 were changed from Hepatic disease; Combined respiratory chain complex deficiencies to Hepatic disease; Combined respiratory chain complex deficienciesHepatic disease; Combined respiratory chain complex deficiencies; Cardiomyopathy; Tubulopathy; Lactic acidosis; Structural brain abnormalities
Mendeliome v0.2175 MRPS23 Zornitza Stark Publications for gene: MRPS23 were set to 26741492
Mendeliome v0.2174 MRPS23 Zornitza Stark Classified gene: MRPS23 as Green List (high evidence)
Mendeliome v0.2174 MRPS23 Zornitza Stark Gene: mrps23 has been classified as Green List (High Evidence).
Mendeliome v0.2173 MRPS23 Zornitza Stark Deleted their comment
Mendeliome v0.2173 MRPS23 Zornitza Stark edited their review of gene: MRPS23: Added comment: Four families reported.; Changed rating: GREEN; Changed publications: 26741492, 17873122, 25663021, 28752220; Changed phenotypes: Hepatic disease, Combined respiratory chain complex deficiencies, Cardiomyopathy, Tubulopathy, Lactic acidosis, Structural brain abnormalities
Mitochondrial disease v0.345 MRPS23 Zornitza Stark Phenotypes for gene: MRPS23 were changed from Hepatic disease; Combined respiratory chain complex deficiencies to Hepatic disease; Combined respiratory chain complex deficiencies; Cardiomyopathy; Tubulopathy; Lactic acidosis; Structural brain abnormalities
Mitochondrial disease v0.344 MRPS23 Zornitza Stark Publications for gene: MRPS23 were set to 26741492
Mitochondrial disease v0.343 MRPS23 Zornitza Stark Classified gene: MRPS23 as Green List (high evidence)
Mitochondrial disease v0.343 MRPS23 Zornitza Stark Gene: mrps23 has been classified as Green List (High Evidence).
Mitochondrial disease v0.342 MRPS23 Zornitza Stark edited their review of gene: MRPS23: Changed rating: GREEN
Mitochondrial disease v0.342 MRPS23 Zornitza Stark changed review comment from: Single family reported.; to: Four families reported.
Mitochondrial disease v0.342 MRPS23 Zornitza Stark edited their review of gene: MRPS23: Changed publications: 26741492, 17873122, 25663021, 28752220; Changed phenotypes: Hepatic disease, Combined respiratory chain complex deficiencies, Cardiomyopathy, Tubulopathy, Lactic acidosis, Structural brain abnormalities
Mitochondrial disease v0.342 MRPS22 Zornitza Stark Marked gene: MRPS22 as ready
Mitochondrial disease v0.342 MRPS22 Zornitza Stark Gene: mrps22 has been classified as Green List (High Evidence).
Mitochondrial disease v0.342 MRPS22 Zornitza Stark Phenotypes for gene: MRPS22 were changed from to Combined oxidative phosphorylation deficiency 5, MIM# 611719
Mitochondrial disease v0.341 MRPS22 Zornitza Stark Publications for gene: MRPS22 were set to
Mitochondrial disease v0.340 MRPS22 Zornitza Stark Mode of inheritance for gene: MRPS22 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.339 MRPS22 Zornitza Stark reviewed gene: MRPS22: Rating: GREEN; Mode of pathogenicity: None; Publications: 17873122, 25663021, 28752220; Phenotypes: Combined oxidative phosphorylation deficiency 5, MIM# 611719; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.339 MRPS2 Zornitza Stark Marked gene: MRPS2 as ready
Mitochondrial disease v0.339 MRPS2 Zornitza Stark Gene: mrps2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.339 MRPS2 Zornitza Stark Phenotypes for gene: MRPS2 were changed from to Combined oxidative phosphorylation deficiency 36, MIM# 617950
Mitochondrial disease v0.338 MRPS2 Zornitza Stark Publications for gene: MRPS2 were set to
Mitochondrial disease v0.337 MRPS2 Zornitza Stark Mode of inheritance for gene: MRPS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.336 MRPS2 Zornitza Stark reviewed gene: MRPS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29576219; Phenotypes: Combined oxidative phosphorylation deficiency 36, MIM# 617950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2173 MIEF2 Zornitza Stark gene: MIEF2 was added
gene: MIEF2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MIEF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MIEF2 were set to 29361167
Phenotypes for gene: MIEF2 were set to Progressive muscle weakness; Exercise intolerance; Ragged red and COX negative fibres; Complex I and IV deficiency
Review for gene: MIEF2 was set to RED
Added comment: Single individual reported.
Sources: Expert list
Mitochondrial disease v0.336 MIEF2 Zornitza Stark Marked gene: MIEF2 as ready
Mitochondrial disease v0.336 MIEF2 Zornitza Stark Gene: mief2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.336 MIEF2 Zornitza Stark gene: MIEF2 was added
gene: MIEF2 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: MIEF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MIEF2 were set to 29361167
Phenotypes for gene: MIEF2 were set to Progressive muscle weakness; Exercise intolerance; Ragged red and COX negative fibres; Complex I and IV deficiency
Review for gene: MIEF2 was set to RED
Added comment: Single individual reported.
Sources: Expert list
Deafness_IsolatedAndComplex v0.331 HAAO Zornitza Stark edited their review of gene: HAAO: Changed rating: GREEN; Changed phenotypes: Vertebral, cardiac, renal, and limb defects syndrome 1, MIM# 617660
Mitochondrial disease v0.335 EXOSC3 Zornitza Stark Marked gene: EXOSC3 as ready
Mitochondrial disease v0.335 EXOSC3 Zornitza Stark Gene: exosc3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.335 EXOSC3 Zornitza Stark Classified gene: EXOSC3 as Amber List (moderate evidence)
Mitochondrial disease v0.335 EXOSC3 Zornitza Stark Gene: exosc3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.334 EXOSC3 Zornitza Stark gene: EXOSC3 was added
gene: EXOSC3 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC3 were set to 28687512
Phenotypes for gene: EXOSC3 were set to Pontocerebellar hypoplasia, type 1B 614678; Intellectual disability; Microcephaly; Hypotonia; Mitochondrial dysfunction
Review for gene: EXOSC3 was set to AMBER
Added comment: Gene-disease association with PCH is well established; one individual reported with mitochondrial dysfunction, postulated to be due to reduced degradation by a dysfunctional exosome complex.
Sources: Expert list
Deafness_IsolatedAndComplex v0.331 ERAL1 Zornitza Stark Marked gene: ERAL1 as ready
Deafness_IsolatedAndComplex v0.331 ERAL1 Zornitza Stark Gene: eral1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.331 ERAL1 Zornitza Stark Classified gene: ERAL1 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.331 ERAL1 Zornitza Stark Gene: eral1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.330 ERAL1 Zornitza Stark gene: ERAL1 was added
gene: ERAL1 was added to Deafness. Sources: Expert list
Mode of inheritance for gene: ERAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERAL1 were set to 28449065
Phenotypes for gene: ERAL1 were set to Perrault syndrome 6, MIM# 617565
Review for gene: ERAL1 was set to AMBER
Added comment: Three individuals from same small geographical location with homozygous missense variant in this gene, functional data.
Sources: Expert list
Mendeliome v0.2172 ERAL1 Zornitza Stark Marked gene: ERAL1 as ready
Mendeliome v0.2172 ERAL1 Zornitza Stark Gene: eral1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2172 ERAL1 Zornitza Stark Classified gene: ERAL1 as Amber List (moderate evidence)
Mendeliome v0.2172 ERAL1 Zornitza Stark Gene: eral1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2171 ERAL1 Zornitza Stark gene: ERAL1 was added
gene: ERAL1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ERAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERAL1 were set to 28449065
Phenotypes for gene: ERAL1 were set to Perrault syndrome 6, MIM# 617565
Review for gene: ERAL1 was set to AMBER
Added comment: Three individuals from same small geographical location with homozygous missense variant in this gene, functional data.
Sources: Expert list
Mitochondrial disease v0.333 ERAL1 Zornitza Stark Marked gene: ERAL1 as ready
Mitochondrial disease v0.333 ERAL1 Zornitza Stark Gene: eral1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.333 ERAL1 Zornitza Stark Classified gene: ERAL1 as Amber List (moderate evidence)
Mitochondrial disease v0.333 ERAL1 Zornitza Stark Gene: eral1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.332 ERAL1 Zornitza Stark gene: ERAL1 was added
gene: ERAL1 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: ERAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERAL1 were set to 28449065
Phenotypes for gene: ERAL1 were set to Perrault syndrome 6, MIM# 617565
Review for gene: ERAL1 was set to AMBER
Added comment: Three individuals from same small geographical location with homozygous missense variant in this gene, functional data.
Sources: Expert list
Mendeliome v0.2170 COX5A Zornitza Stark Marked gene: COX5A as ready
Mendeliome v0.2170 COX5A Zornitza Stark Gene: cox5a has been classified as Red List (Low Evidence).
Mendeliome v0.2170 COX5A Zornitza Stark gene: COX5A was added
gene: COX5A was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: COX5A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX5A were set to 2824752
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 reported.
Sources: Expert list
Mitochondrial disease v0.331 COX4I1 Zornitza Stark reviewed gene: COX4I1: Rating: RED; Mode of pathogenicity: None; Publications: 28766551, 22592081; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.331 CHKB Zornitza Stark Marked gene: CHKB as ready
Mitochondrial disease v0.331 CHKB Zornitza Stark Gene: chkb has been classified as Green List (High Evidence).
Mitochondrial disease v0.331 CHKB Zornitza Stark Classified gene: CHKB as Green List (high evidence)
Mitochondrial disease v0.331 CHKB Zornitza Stark Gene: chkb has been classified as Green List (High Evidence).
Mitochondrial disease v0.330 CHKB Zornitza Stark gene: CHKB was added
gene: CHKB was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHKB were set to 21665002; 23692895; 24997086
Phenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type, MIM# 602541; Intellectual disability; Abnormal mitochondria
Review for gene: CHKB was set to GREEN
Added comment: Congenital muscular dystrophy characterized by early-onset muscle wasting, intellectual disability, and enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center on muscle biopsy.
Sources: Expert list
Mitochondrial disease v0.329 C1QBP Zornitza Stark Marked gene: C1QBP as ready
Mitochondrial disease v0.329 C1QBP Zornitza Stark Gene: c1qbp has been classified as Green List (High Evidence).
Mitochondrial disease v0.329 C1QBP Zornitza Stark Phenotypes for gene: C1QBP were changed from to Combined oxidative phosphorylation deficiency 33, MIM# 617713
Mitochondrial disease v0.328 C1QBP Zornitza Stark Publications for gene: C1QBP were set to
Mitochondrial disease v0.327 C1QBP Zornitza Stark Mode of inheritance for gene: C1QBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.326 C1QBP Zornitza Stark reviewed gene: C1QBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 28942965; Phenotypes: Combined oxidative phosphorylation deficiency 33, MIM# 617713; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2518 NDUFS4 Zornitza Stark reviewed gene: NDUFS4: Rating: GREEN; Mode of pathogenicity: None; Publications: 10944442, 27079373, 19107570, 12616398; Phenotypes: Mitochondrial complex I deficiency, nuclear type 1, 252010, Leigh syndrome, MIM#252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.326 NDUFS4 Zornitza Stark Marked gene: NDUFS4 as ready
Mitochondrial disease v0.326 NDUFS4 Zornitza Stark Gene: ndufs4 has been classified as Green List (High Evidence).
Mitochondrial disease v0.326 NDUFS4 Zornitza Stark Phenotypes for gene: NDUFS4 were changed from Mitochondrial complex I deficiency, nuclear type 1, 252010; Leigh syndrome to Mitochondrial complex I deficiency, nuclear type 1, 252010; Leigh syndrome, MIM#252010
Mitochondrial disease v0.325 NDUFS4 Zornitza Stark Phenotypes for gene: NDUFS4 were changed from to Mitochondrial complex I deficiency, nuclear type 1, 252010; Leigh syndrome
Mitochondrial disease v0.324 NDUFS4 Zornitza Stark Publications for gene: NDUFS4 were set to
Mitochondrial disease v0.323 NDUFS4 Zornitza Stark Mode of inheritance for gene: NDUFS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.58 PIK3CD Zornitza Stark Mode of inheritance for gene: PIK3CD was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.57 PIK3CD Zornitza Stark changed review comment from: Multiple individuals reported with GoF variants, most commonly E1021K.; to: Multiple individuals reported with GoF variants, most commonly E1021K. Note recent reports of bi-allelic variants causing disease: severe bacterial infections, and increased chance of autoimmunity.
Predominantly Antibody Deficiency v0.57 PIK3CD Zornitza Stark edited their review of gene: PIK3CD: Changed publications: 24136356, 30018075, 24165795, 31073077; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phagocyte Defects v0.37 WDR1 Zornitza Stark Phenotypes for gene: WDR1 were changed from Neutropaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate to Neutropaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate; Autoinflammatory periodic fever; Thrombocytopaenia
Phagocyte Defects v0.36 WDR1 Zornitza Stark edited their review of gene: WDR1: Changed phenotypes: Autoinflammatory periodic fever, neutrophil dysfunction, immunodeficiency, and thrombocytopenia
Defects of intrinsic and innate immunity v0.41 TRAF3IP2 Zornitza Stark Marked gene: TRAF3IP2 as ready
Defects of intrinsic and innate immunity v0.41 TRAF3IP2 Zornitza Stark Gene: traf3ip2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2169 TRAF3IP2 Zornitza Stark Marked gene: TRAF3IP2 as ready
Mendeliome v0.2169 TRAF3IP2 Zornitza Stark Gene: traf3ip2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2169 TRAF3IP2 Zornitza Stark Phenotypes for gene: TRAF3IP2 were changed from to Candidiasis, familial, 8, MIM# 615527
Mendeliome v0.2168 TRAF3IP2 Zornitza Stark Publications for gene: TRAF3IP2 were set to
Mendeliome v0.2167 TRAF3IP2 Zornitza Stark Mode of inheritance for gene: TRAF3IP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.41 TRAF3IP2 Zornitza Stark Phenotypes for gene: TRAF3IP2 were changed from to Candidiasis, familial, 8, MIM# 615527
Mendeliome v0.2166 TRAF3IP2 Zornitza Stark Classified gene: TRAF3IP2 as Amber List (moderate evidence)
Mendeliome v0.2166 TRAF3IP2 Zornitza Stark Gene: traf3ip2 has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.40 TRAF3IP2 Zornitza Stark Publications for gene: TRAF3IP2 were set to
Mendeliome v0.2165 TRAF3IP2 Zornitza Stark reviewed gene: TRAF3IP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24120361, 31292894, 20660351; Phenotypes: Candidiasis, familial, 8, MIM# 615527; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.39 TRAF3IP2 Zornitza Stark Mode of inheritance for gene: TRAF3IP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.38 TRAF3IP2 Zornitza Stark Classified gene: TRAF3IP2 as Amber List (moderate evidence)
Defects of intrinsic and innate immunity v0.38 TRAF3IP2 Zornitza Stark Gene: traf3ip2 has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.37 TRAF3IP2 Zornitza Stark reviewed gene: TRAF3IP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24120361, 31292894, 20660351; Phenotypes: Candidiasis, familial, 8, MIM# 615527; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2165 TRAF3 Zornitza Stark Marked gene: TRAF3 as ready
Mendeliome v0.2165 TRAF3 Zornitza Stark Gene: traf3 has been classified as Red List (Low Evidence).
Mendeliome v0.2165 TRAF3 Zornitza Stark Phenotypes for gene: TRAF3 were changed from to {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, MIM# 614849
Mendeliome v0.2164 TRAF3 Zornitza Stark Publications for gene: TRAF3 were set to
Mendeliome v0.2163 TRAF3 Zornitza Stark Mode of inheritance for gene: TRAF3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2162 TRAF3 Zornitza Stark Classified gene: TRAF3 as Red List (low evidence)
Mendeliome v0.2162 TRAF3 Zornitza Stark Gene: traf3 has been classified as Red List (Low Evidence).
Mendeliome v0.2161 TRAF3 Zornitza Stark reviewed gene: TRAF3: Rating: RED; Mode of pathogenicity: None; Publications: 20832341; Phenotypes: {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, MIM# 614849; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Susceptibility to Viral Infections v0.34 TRAF3 Zornitza Stark Marked gene: TRAF3 as ready
Susceptibility to Viral Infections v0.34 TRAF3 Zornitza Stark Gene: traf3 has been classified as Red List (Low Evidence).
Susceptibility to Viral Infections v0.34 TRAF3 Zornitza Stark Phenotypes for gene: TRAF3 were changed from to {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, MIM# 614849
Susceptibility to Viral Infections v0.33 TRAF3 Zornitza Stark Publications for gene: TRAF3 were set to
Susceptibility to Viral Infections v0.32 TRAF3 Zornitza Stark Mode of inheritance for gene: TRAF3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Susceptibility to Viral Infections v0.31 TRAF3 Zornitza Stark Classified gene: TRAF3 as Red List (low evidence)
Susceptibility to Viral Infections v0.31 TRAF3 Zornitza Stark Gene: traf3 has been classified as Red List (Low Evidence).
Susceptibility to Viral Infections v0.30 TRAF3 Zornitza Stark reviewed gene: TRAF3: Rating: RED; Mode of pathogenicity: None; Publications: 20832341; Phenotypes: {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, MIM# 614849; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Defects of intrinsic and innate immunity v0.37 TRAF3 Zornitza Stark Marked gene: TRAF3 as ready
Defects of intrinsic and innate immunity v0.37 TRAF3 Zornitza Stark Gene: traf3 has been classified as Red List (Low Evidence).
Defects of intrinsic and innate immunity v0.37 TRAF3 Zornitza Stark Phenotypes for gene: TRAF3 were changed from to {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, MIM# 614849
Defects of intrinsic and innate immunity v0.36 TRAF3 Zornitza Stark Publications for gene: TRAF3 were set to
Defects of intrinsic and innate immunity v0.35 TRAF3 Zornitza Stark Mode of inheritance for gene: TRAF3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Defects of intrinsic and innate immunity v0.34 TRAF3 Zornitza Stark Classified gene: TRAF3 as Red List (low evidence)
Defects of intrinsic and innate immunity v0.34 TRAF3 Zornitza Stark Gene: traf3 has been classified as Red List (Low Evidence).
Defects of intrinsic and innate immunity v0.33 TRAF3 Zornitza Stark reviewed gene: TRAF3: Rating: RED; Mode of pathogenicity: None; Publications: 20832341; Phenotypes: {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, MIM# 614849; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Combined Immunodeficiency v0.152 TPP1 Zornitza Stark Marked gene: TPP1 as ready
Combined Immunodeficiency v0.152 TPP1 Zornitza Stark Gene: tpp1 has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.152 TPP1 Zornitza Stark Phenotypes for gene: TPP1 were changed from to Hoyeraal-Hreidarsson syndrome
Combined Immunodeficiency v0.151 TPP1 Zornitza Stark Publications for gene: TPP1 were set to
Combined Immunodeficiency v0.150 TPP1 Zornitza Stark Mode of inheritance for gene: TPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.149 TPP1 Zornitza Stark Classified gene: TPP1 as Red List (low evidence)
Combined Immunodeficiency v0.149 TPP1 Zornitza Stark Gene: tpp1 has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.148 TPP1 Zornitza Stark reviewed gene: TPP1: Rating: RED; Mode of pathogenicity: None; Publications: 25233904; Phenotypes: Hoyeraal-Hreidarsson syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2161 TNFSF12 Zornitza Stark Marked gene: TNFSF12 as ready
Mendeliome v0.2161 TNFSF12 Zornitza Stark Gene: tnfsf12 has been classified as Red List (Low Evidence).
Mendeliome v0.2161 TNFSF12 Zornitza Stark Phenotypes for gene: TNFSF12 were changed from to Recurrent infections, poor antibody responses, decreased immunoglobulins
Mendeliome v0.2160 TNFSF12 Zornitza Stark Publications for gene: TNFSF12 were set to
Mendeliome v0.2159 TNFSF12 Zornitza Stark Mode of inheritance for gene: TNFSF12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2158 TNFSF12 Zornitza Stark Classified gene: TNFSF12 as Red List (low evidence)
Mendeliome v0.2158 TNFSF12 Zornitza Stark Gene: tnfsf12 has been classified as Red List (Low Evidence).
Mendeliome v0.2157 TNFSF12 Zornitza Stark reviewed gene: TNFSF12: Rating: RED; Mode of pathogenicity: None; Publications: 23493554; Phenotypes: Recurrent infections, poor antibody responses, decreased immunoglobulins; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Predominantly Antibody Deficiency v0.57 TNFSF12 Zornitza Stark Marked gene: TNFSF12 as ready
Predominantly Antibody Deficiency v0.57 TNFSF12 Zornitza Stark Gene: tnfsf12 has been classified as Red List (Low Evidence).
Predominantly Antibody Deficiency v0.57 TNFSF12 Zornitza Stark Phenotypes for gene: TNFSF12 were changed from to Recurrent infections, poor antibody responses, decreased immunoglobulins
Predominantly Antibody Deficiency v0.56 TNFSF12 Zornitza Stark Publications for gene: TNFSF12 were set to
Predominantly Antibody Deficiency v0.55 TNFSF12 Zornitza Stark Mode of inheritance for gene: TNFSF12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Predominantly Antibody Deficiency v0.54 TNFSF12 Zornitza Stark Classified gene: TNFSF12 as Red List (low evidence)
Predominantly Antibody Deficiency v0.54 TNFSF12 Zornitza Stark Gene: tnfsf12 has been classified as Red List (Low Evidence).
Predominantly Antibody Deficiency v0.53 TNFSF12 Zornitza Stark reviewed gene: TNFSF12: Rating: RED; Mode of pathogenicity: None; Publications: 23493554; Phenotypes: Recurrent infections, poor antibody responses, decreased immunoglobulins; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2157 TNFRSF4 Zornitza Stark Marked gene: TNFRSF4 as ready
Mendeliome v0.2157 TNFRSF4 Zornitza Stark Gene: tnfrsf4 has been classified as Red List (Low Evidence).
Mendeliome v0.2157 TNFRSF4 Zornitza Stark Phenotypes for gene: TNFRSF4 were changed from to Immunodeficiency 16, MIM# 615593
Mendeliome v0.2156 TNFRSF4 Zornitza Stark Publications for gene: TNFRSF4 were set to
Mendeliome v0.2155 TNFRSF4 Zornitza Stark Mode of inheritance for gene: TNFRSF4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2154 TNFRSF4 Zornitza Stark Classified gene: TNFRSF4 as Red List (low evidence)
Mendeliome v0.2154 TNFRSF4 Zornitza Stark Gene: tnfrsf4 has been classified as Red List (Low Evidence).
Mendeliome v0.2153 TNFRSF4 Zornitza Stark reviewed gene: TNFRSF4: Rating: RED; Mode of pathogenicity: None; Publications: 23897980; Phenotypes: Immunodeficiency 16, MIM# 615593; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.148 TNFRSF4 Zornitza Stark edited their review of gene: TNFRSF4: Changed phenotypes: Immunodeficiency 16, MIM# 615593
Combined Immunodeficiency v0.148 TNFRSF4 Zornitza Stark Marked gene: TNFRSF4 as ready
Combined Immunodeficiency v0.148 TNFRSF4 Zornitza Stark Gene: tnfrsf4 has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.148 TNFRSF4 Zornitza Stark Phenotypes for gene: TNFRSF4 were changed from to Immunodeficiency 16, MIM# 615593
Combined Immunodeficiency v0.147 TNFRSF4 Zornitza Stark Publications for gene: TNFRSF4 were set to
Combined Immunodeficiency v0.146 TNFRSF4 Zornitza Stark Mode of inheritance for gene: TNFRSF4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.145 TNFRSF4 Zornitza Stark Classified gene: TNFRSF4 as Red List (low evidence)
Combined Immunodeficiency v0.145 TNFRSF4 Zornitza Stark Gene: tnfrsf4 has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.144 TNFRSF4 Zornitza Stark reviewed gene: TNFRSF4: Rating: RED; Mode of pathogenicity: None; Publications: 23897980; Phenotypes: Immunodeficiency, MIM# 16; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2153 TNFRSF13C Zornitza Stark Marked gene: TNFRSF13C as ready
Mendeliome v0.2153 TNFRSF13C Zornitza Stark Gene: tnfrsf13c has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2153 TNFRSF13C Zornitza Stark Phenotypes for gene: TNFRSF13C were changed from to Immunodeficiency, common variable, 4, MIM# 613494
Mendeliome v0.2152 TNFRSF13C Zornitza Stark Publications for gene: TNFRSF13C were set to
Mendeliome v0.2151 TNFRSF13C Zornitza Stark Mode of inheritance for gene: TNFRSF13C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2150 TNFRSF13C Zornitza Stark Classified gene: TNFRSF13C as Amber List (moderate evidence)
Mendeliome v0.2150 TNFRSF13C Zornitza Stark Gene: tnfrsf13c has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2149 TNFRSF13C Zornitza Stark reviewed gene: TNFRSF13C: Rating: AMBER; Mode of pathogenicity: None; Publications: 19666484, 26613719; Phenotypes: Immunodeficiency, common variable, 4, MIM# 613494; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.53 TNFRSF13C Zornitza Stark Marked gene: TNFRSF13C as ready
Predominantly Antibody Deficiency v0.53 TNFRSF13C Zornitza Stark Gene: tnfrsf13c has been classified as Amber List (Moderate Evidence).
Predominantly Antibody Deficiency v0.53 TNFRSF13C Zornitza Stark Phenotypes for gene: TNFRSF13C were changed from to Immunodeficiency, common variable, 4, MIM# 613494
Predominantly Antibody Deficiency v0.52 TNFRSF13C Zornitza Stark Publications for gene: TNFRSF13C were set to
Predominantly Antibody Deficiency v0.51 TNFRSF13C Zornitza Stark Mode of inheritance for gene: TNFRSF13C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.50 TNFRSF13C Zornitza Stark Classified gene: TNFRSF13C as Amber List (moderate evidence)
Predominantly Antibody Deficiency v0.50 TNFRSF13C Zornitza Stark Gene: tnfrsf13c has been classified as Amber List (Moderate Evidence).
Predominantly Antibody Deficiency v0.49 TNFRSF13C Zornitza Stark reviewed gene: TNFRSF13C: Rating: AMBER; Mode of pathogenicity: None; Publications: 19666484, 26613719; Phenotypes: Immunodeficiency, common variable, 4, MIM# 613494; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.322 NDUFS4 Kristin Rigbye reviewed gene: NDUFS4: Rating: GREEN; Mode of pathogenicity: None; Publications: 10944442, 27079373, 19107570, 12616398; Phenotypes: Mitochondrial complex I deficiency, nuclear type 1, 252010, Leigh syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2149 TNFRSF13B Zornitza Stark Marked gene: TNFRSF13B as ready
Mendeliome v0.2149 TNFRSF13B Zornitza Stark Gene: tnfrsf13b has been classified as Green List (High Evidence).
Mendeliome v0.2149 TNFRSF13B Zornitza Stark Phenotypes for gene: TNFRSF13B were changed from to Immunodeficiency, common variable, 2, MIM# 240500
Mendeliome v0.2148 TNFRSF13B Zornitza Stark Publications for gene: TNFRSF13B were set to
Mendeliome v0.2147 TNFRSF13B Zornitza Stark Mode of inheritance for gene: TNFRSF13B was changed from Unknown to Other
Mendeliome v0.2146 TNFRSF13B Zornitza Stark reviewed gene: TNFRSF13B: Rating: GREEN; Mode of pathogenicity: None; Publications: 17392798, 16007086, 18981294, 16007087; Phenotypes: Immunodeficiency, common variable, 2, MIM# 240500; Mode of inheritance: Other
Predominantly Antibody Deficiency v0.49 TNFRSF13B Zornitza Stark Marked gene: TNFRSF13B as ready
Predominantly Antibody Deficiency v0.49 TNFRSF13B Zornitza Stark Gene: tnfrsf13b has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.49 TNFRSF13B Zornitza Stark Phenotypes for gene: TNFRSF13B were changed from to Immunodeficiency, common variable, 2, MIM# 240500
Predominantly Antibody Deficiency v0.48 TNFRSF13B Zornitza Stark Publications for gene: TNFRSF13B were set to
Predominantly Antibody Deficiency v0.47 TNFRSF13B Zornitza Stark Mode of inheritance for gene: TNFRSF13B was changed from Unknown to Other
Predominantly Antibody Deficiency v0.46 TNFRSF13B Zornitza Stark reviewed gene: TNFRSF13B: Rating: GREEN; Mode of pathogenicity: None; Publications: 17392798, 16007086, 18981294, 16007087; Phenotypes: Immunodeficiency, common variable, 2, MIM# 240500; Mode of inheritance: Other
Combined Immunodeficiency v0.144 TINF2 Zornitza Stark Marked gene: TINF2 as ready
Combined Immunodeficiency v0.144 TINF2 Zornitza Stark Gene: tinf2 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.144 TINF2 Zornitza Stark Phenotypes for gene: TINF2 were changed from to Dyskeratosis congenita, autosomal dominant 3, MIM# 613990; Revesz syndrome, MIM# 268130
Combined Immunodeficiency v0.143 TINF2 Zornitza Stark Mode of inheritance for gene: TINF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Combined Immunodeficiency v0.142 TINF2 Zornitza Stark Classified gene: TINF2 as Amber List (moderate evidence)
Combined Immunodeficiency v0.142 TINF2 Zornitza Stark Gene: tinf2 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.141 TINF2 Zornitza Stark reviewed gene: TINF2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskeratosis congenita, autosomal dominant 3, MIM# 613990, Revesz syndrome, MIM# 268130; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2146 THBD Zornitza Stark Marked gene: THBD as ready
Mendeliome v0.2146 THBD Zornitza Stark Gene: thbd has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2146 THBD Zornitza Stark Phenotypes for gene: THBD were changed from to {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, MIM# 612926
Mendeliome v0.2145 THBD Zornitza Stark Publications for gene: THBD were set to
Mendeliome v0.2144 THBD Zornitza Stark Mode of inheritance for gene: THBD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2143 THBD Zornitza Stark Classified gene: THBD as Amber List (moderate evidence)
Mendeliome v0.2143 THBD Zornitza Stark Gene: thbd has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2142 THBD Zornitza Stark reviewed gene: THBD: Rating: AMBER; Mode of pathogenicity: None; Publications: 29500241, 19625716; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, MIM# 612926; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Complement Deficiencies v0.35 THBD Zornitza Stark Marked gene: THBD as ready
Complement Deficiencies v0.35 THBD Zornitza Stark Gene: thbd has been classified as Red List (Low Evidence).
Complement Deficiencies v0.35 THBD Zornitza Stark Phenotypes for gene: THBD were changed from to {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, MIM# 612926
Complement Deficiencies v0.34 THBD Zornitza Stark Publications for gene: THBD were set to
Complement Deficiencies v0.33 THBD Zornitza Stark Mode of inheritance for gene: THBD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Complement Deficiencies v0.32 THBD Zornitza Stark Classified gene: THBD as Red List (low evidence)
Complement Deficiencies v0.32 THBD Zornitza Stark Gene: thbd has been classified as Red List (Low Evidence).
Complement Deficiencies v0.31 THBD Zornitza Stark reviewed gene: THBD: Rating: RED; Mode of pathogenicity: None; Publications: 29500241, 19625716; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, MIM# 612926; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2142 TAPBP Zornitza Stark Marked gene: TAPBP as ready
Mendeliome v0.2142 TAPBP Zornitza Stark Gene: tapbp has been classified as Red List (Low Evidence).
Mendeliome v0.2142 TAPBP Zornitza Stark Phenotypes for gene: TAPBP were changed from to Bare lymphocyte syndrome, type I, MIM# 604571
Mendeliome v0.2141 TAPBP Zornitza Stark Mode of inheritance for gene: TAPBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2140 NXN Zornitza Stark Phenotypes for gene: NXN were changed from to Robinow syndrome, autosomal recessive 2 618529
Mendeliome v0.2139 NXN Zornitza Stark Publications for gene: NXN were set to
Mendeliome v0.2138 NXN Zornitza Stark Mode of inheritance for gene: NXN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2137 NXN Zornitza Stark reviewed gene: NXN: Rating: GREEN; Mode of pathogenicity: None; Publications: 29276006; Phenotypes: Robinow syndrome, autosomal recessive 2 618529; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.141 TERT Zornitza Stark Marked gene: TERT as ready
Combined Immunodeficiency v0.141 TERT Zornitza Stark Gene: tert has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2137 TAPBP Zornitza Stark Publications for gene: TAPBP were set to
Combined Immunodeficiency v0.141 TERT Zornitza Stark Phenotypes for gene: TERT were changed from to {Dyskeratosis congenita, autosomal dominant 2}, MIM# 613989; {Dyskeratosis congenita, autosomal recessive 4}, MIM# 613989
Combined Immunodeficiency v0.140 TERT Zornitza Stark Mode of inheritance for gene: TERT was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Combined Immunodeficiency v0.139 TERT Zornitza Stark Classified gene: TERT as Amber List (moderate evidence)
Combined Immunodeficiency v0.139 TERT Zornitza Stark Gene: tert has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.138 TERT Zornitza Stark reviewed gene: TERT: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: {Dyskeratosis congenita, autosomal dominant 2}, MIM# 613989, {Dyskeratosis congenita, autosomal recessive 4}, MIM# 613989; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Combined Immunodeficiency v0.138 TERC Zornitza Stark Marked gene: TERC as ready
Combined Immunodeficiency v0.138 TERC Zornitza Stark Gene: terc has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.138 TERC Zornitza Stark Phenotypes for gene: TERC were changed from to Dyskeratosis congenita, autosomal dominant 1, MIM# 127550
Combined Immunodeficiency v0.137 TERC Zornitza Stark Mode of inheritance for gene: TERC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Combined Immunodeficiency v0.136 TERC Zornitza Stark Classified gene: TERC as Amber List (moderate evidence)
Combined Immunodeficiency v0.136 TERC Zornitza Stark Gene: terc has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.135 TERC Zornitza Stark reviewed gene: TERC: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskeratosis congenita, autosomal dominant 1, MIM# 127550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2136 TAPBP Zornitza Stark Classified gene: TAPBP as Red List (low evidence)
Mendeliome v0.2136 TAPBP Zornitza Stark Gene: tapbp has been classified as Red List (Low Evidence).
Mendeliome v0.2136 TAPBP Zornitza Stark Classified gene: TAPBP as Red List (low evidence)
Mendeliome v0.2136 TAPBP Zornitza Stark Gene: tapbp has been classified as Red List (Low Evidence).
Mendeliome v0.2135 TAPBP Zornitza Stark reviewed gene: TAPBP: Rating: RED; Mode of pathogenicity: None; Publications: 12149238; Phenotypes: Bare lymphocyte syndrome, type I, MIM# 604571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.135 TAPBP Zornitza Stark Tag SV/CNV tag was added to gene: TAPBP.
Combined Immunodeficiency v0.135 TAPBP Zornitza Stark Marked gene: TAPBP as ready
Combined Immunodeficiency v0.135 TAPBP Zornitza Stark Gene: tapbp has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.135 TAPBP Zornitza Stark Phenotypes for gene: TAPBP were changed from to Bare lymphocyte syndrome, type I, MIM# 604571
Combined Immunodeficiency v0.134 TAPBP Zornitza Stark Publications for gene: TAPBP were set to
Combined Immunodeficiency v0.133 TAPBP Zornitza Stark Mode of inheritance for gene: TAPBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.132 TAPBP Zornitza Stark Classified gene: TAPBP as Red List (low evidence)
Combined Immunodeficiency v0.132 TAPBP Zornitza Stark Gene: tapbp has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.131 TAPBP Zornitza Stark reviewed gene: TAPBP: Rating: RED; Mode of pathogenicity: None; Publications: 12149238; Phenotypes: Bare lymphocyte syndrome, type I, MIM# 604571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.63 SH3BP2 Zornitza Stark Phenotypes for gene: SH3BP2 were changed from Cherubism, MIM# 118400 to Cherubism, MIM# 118400
Autoinflammatory Disorders v0.63 SH3BP2 Zornitza Stark Marked gene: SH3BP2 as ready
Autoinflammatory Disorders v0.63 SH3BP2 Zornitza Stark Gene: sh3bp2 has been classified as Red List (Low Evidence).
Autoinflammatory Disorders v0.63 SH3BP2 Zornitza Stark Phenotypes for gene: SH3BP2 were changed from Cherubism, MIM# 118400 to Cherubism, MIM# 118400
Autoinflammatory Disorders v0.63 SH3BP2 Zornitza Stark Phenotypes for gene: SH3BP2 were changed from to Cherubism, MIM# 118400
Autoinflammatory Disorders v0.62 SH3BP2 Zornitza Stark Publications for gene: SH3BP2 were set to
Autoinflammatory Disorders v0.61 SH3BP2 Zornitza Stark Mode of inheritance for gene: SH3BP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.60 SH3BP2 Zornitza Stark Classified gene: SH3BP2 as Red List (low evidence)
Autoinflammatory Disorders v0.60 SH3BP2 Zornitza Stark Gene: sh3bp2 has been classified as Red List (Low Evidence).
Autoinflammatory Disorders v0.59 SH3BP2 Zornitza Stark reviewed gene: SH3BP2: Rating: RED; Mode of pathogenicity: None; Publications: 26152156, 25705883, 25470448, 25220465; Phenotypes: Cherubism, MIM# 118400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2135 SEMA3E Zornitza Stark Marked gene: SEMA3E as ready
Mendeliome v0.2135 SEMA3E Zornitza Stark Gene: sema3e has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2135 SEMA3E Zornitza Stark Phenotypes for gene: SEMA3E were changed from to CHARGE syndrome, MIM#214800
Mendeliome v0.2134 SEMA3E Zornitza Stark Publications for gene: SEMA3E were set to
Mendeliome v0.2133 SEMA3E Zornitza Stark Mode of inheritance for gene: SEMA3E was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2133 SEMA3E Zornitza Stark Classified gene: SEMA3E as Amber List (moderate evidence)
Mendeliome v0.2133 SEMA3E Zornitza Stark Gene: sema3e has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2132 SEMA3E Zornitza Stark reviewed gene: SEMA3E: Rating: AMBER; Mode of pathogenicity: None; Publications: 15235037, 31691538, 31464029; Phenotypes: CHARGE syndrome, MIM#214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Combined Immunodeficiency v0.131 SEMA3E Zornitza Stark Marked gene: SEMA3E as ready
Combined Immunodeficiency v0.131 SEMA3E Zornitza Stark Gene: sema3e has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.131 SEMA3E Zornitza Stark Phenotypes for gene: SEMA3E were changed from to CHARGE syndrome, MIM# 214800
Combined Immunodeficiency v0.130 SEMA3E Zornitza Stark Publications for gene: SEMA3E were set to
Combined Immunodeficiency v0.129 SEMA3E Zornitza Stark Mode of inheritance for gene: SEMA3E was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Combined Immunodeficiency v0.128 SEMA3E Zornitza Stark Classified gene: SEMA3E as Red List (low evidence)
Combined Immunodeficiency v0.128 SEMA3E Zornitza Stark Gene: sema3e has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.127 SEMA3E Zornitza Stark reviewed gene: SEMA3E: Rating: RED; Mode of pathogenicity: None; Publications: 15235037, 28634005; Phenotypes: CHARGE syndrome, MIM# 214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inflammatory bowel disease v0.24 SAMD9 Zornitza Stark Marked gene: SAMD9 as ready
Inflammatory bowel disease v0.24 SAMD9 Zornitza Stark Gene: samd9 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.24 SAMD9 Zornitza Stark Phenotypes for gene: SAMD9 were changed from to MIRAGE syndrome, MIM# 617053
Inflammatory bowel disease v0.23 SAMD9 Zornitza Stark Publications for gene: SAMD9 were set to
Inflammatory bowel disease v0.22 SAMD9 Zornitza Stark Mode of inheritance for gene: SAMD9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inflammatory bowel disease v0.21 SAMD9 Zornitza Stark reviewed gene: SAMD9: Rating: GREEN; Mode of pathogenicity: None; Publications: 31620126; Phenotypes: MIRAGE syndrome, MIM# 617053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2132 RNF31 Zornitza Stark Marked gene: RNF31 as ready
Mendeliome v0.2132 RNF31 Zornitza Stark Gene: rnf31 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2132 RNF31 Zornitza Stark Phenotypes for gene: RNF31 were changed from to Immune deficiency; Autoinflammation
Mendeliome v0.2131 RNF31 Zornitza Stark Publications for gene: RNF31 were set to
Mendeliome v0.2130 RNF31 Zornitza Stark Mode of inheritance for gene: RNF31 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2129 RNF31 Zornitza Stark Classified gene: RNF31 as Amber List (moderate evidence)
Mendeliome v0.2129 RNF31 Zornitza Stark Gene: rnf31 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2128 RNF31 Zornitza Stark reviewed gene: RNF31: Rating: AMBER; Mode of pathogenicity: None; Publications: 26008899, 30936877; Phenotypes: Immune deficiency, Autoinflammation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.127 RNF31 Zornitza Stark Marked gene: RNF31 as ready
Combined Immunodeficiency v0.127 RNF31 Zornitza Stark Gene: rnf31 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.127 RNF31 Zornitza Stark Phenotypes for gene: RNF31 were changed from to Immune deficiency; Autoinflammation
Combined Immunodeficiency v0.126 RNF31 Zornitza Stark Publications for gene: RNF31 were set to
Combined Immunodeficiency v0.125 RNF31 Zornitza Stark Mode of inheritance for gene: RNF31 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.124 RNF31 Zornitza Stark Classified gene: RNF31 as Amber List (moderate evidence)
Combined Immunodeficiency v0.124 RNF31 Zornitza Stark Gene: rnf31 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.123 RNF31 Zornitza Stark reviewed gene: RNF31: Rating: AMBER; Mode of pathogenicity: None; Publications: 26008899, 30936877; Phenotypes: Immune deficiency, Autoinflammation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2128 RHOH Zornitza Stark Marked gene: RHOH as ready
Mendeliome v0.2128 RHOH Zornitza Stark Gene: rhoh has been classified as Red List (Low Evidence).
Mendeliome v0.2128 RHOH Zornitza Stark Phenotypes for gene: RHOH were changed from to {?Epidermodysplasia verruciformis, susceptibility to, 4}, MIM# 618307
Mendeliome v0.2127 RHOH Zornitza Stark Publications for gene: RHOH were set to
Mendeliome v0.2126 RHOH Zornitza Stark Mode of inheritance for gene: RHOH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2125 RHOH Zornitza Stark Classified gene: RHOH as Red List (low evidence)
Mendeliome v0.2125 RHOH Zornitza Stark Gene: rhoh has been classified as Red List (Low Evidence).
Mendeliome v0.2124 RHOH Zornitza Stark reviewed gene: RHOH: Rating: RED; Mode of pathogenicity: None; Publications: 22850876, 27574848; Phenotypes: {?Epidermodysplasia verruciformis, susceptibility to, 4}, MIM# 618307; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.123 RHOH Zornitza Stark Marked gene: RHOH as ready
Combined Immunodeficiency v0.123 RHOH Zornitza Stark Gene: rhoh has been classified as Red List (Low Evidence).
Mendeliome v0.2124 PSMB9 Zornitza Stark Marked gene: PSMB9 as ready
Mendeliome v0.2124 PSMB9 Zornitza Stark Gene: psmb9 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.123 RHOH Zornitza Stark Phenotypes for gene: RHOH were changed from to {?Epidermodysplasia verruciformis, susceptibility to, 4}, MIM# 618307
Combined Immunodeficiency v0.122 RHOH Zornitza Stark Publications for gene: RHOH were set to
Combined Immunodeficiency v0.121 RHOH Zornitza Stark Mode of inheritance for gene: RHOH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.120 RHOH Zornitza Stark Classified gene: RHOH as Red List (low evidence)
Combined Immunodeficiency v0.120 RHOH Zornitza Stark Gene: rhoh has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.119 RHOH Zornitza Stark reviewed gene: RHOH: Rating: RED; Mode of pathogenicity: None; Publications: 22850876, 27574848; Phenotypes: {?Epidermodysplasia verruciformis, susceptibility to, 4}, MIM# 618307; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.36 RAC2 Zornitza Stark Mode of inheritance for gene: RAC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.35 RAC2 Zornitza Stark edited their review of gene: RAC2: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.46 RAC2 Zornitza Stark Mode of inheritance for gene: RAC2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inflammatory bowel disease v0.21 PTEN Zornitza Stark reviewed gene: PTEN: Rating: AMBER; Mode of pathogenicity: None; Publications: 23962154, 24882466, 25352295, 22266152; Phenotypes: Colitis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2124 PSMB9 Zornitza Stark Phenotypes for gene: PSMB9 were changed from to Proteasome-associated autoinflammatory syndrome 3, digenic, MIM# 617591
Mendeliome v0.2123 PSMB9 Zornitza Stark Publications for gene: PSMB9 were set to
Mendeliome v0.2122 PSMB9 Zornitza Stark Mode of inheritance for gene: PSMB9 was changed from Unknown to Other
Mendeliome v0.2121 PSMB9 Zornitza Stark Classified gene: PSMB9 as Amber List (moderate evidence)
Mendeliome v0.2121 PSMB9 Zornitza Stark Gene: psmb9 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2120 PSMB9 Zornitza Stark reviewed gene: PSMB9: Rating: AMBER; Mode of pathogenicity: None; Publications: 26524591; Phenotypes: Proteasome-associated autoinflammatory syndrome 3, digenic, MIM# 617591; Mode of inheritance: Other
Autoinflammatory Disorders v0.59 PSMB9 Zornitza Stark Marked gene: PSMB9 as ready
Autoinflammatory Disorders v0.59 PSMB9 Zornitza Stark Gene: psmb9 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.59 PSMB9 Zornitza Stark Phenotypes for gene: PSMB9 were changed from to Proteasome-associated autoinflammatory syndrome 3, digenic, MIM# 617591
Autoinflammatory Disorders v0.58 PSMB9 Zornitza Stark Publications for gene: PSMB9 were set to
Autoinflammatory Disorders v0.57 PSMB9 Zornitza Stark Mode of inheritance for gene: PSMB9 was changed from Unknown to Other
Autoinflammatory Disorders v0.56 PSMB9 Zornitza Stark Classified gene: PSMB9 as Amber List (moderate evidence)
Autoinflammatory Disorders v0.56 PSMB9 Zornitza Stark Gene: psmb9 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.55 PSMB9 Zornitza Stark reviewed gene: PSMB9: Rating: AMBER; Mode of pathogenicity: None; Publications: 26524591; Phenotypes: Proteasome-associated autoinflammatory syndrome 3, digenic, MIM# 617591; Mode of inheritance: Other
Mendeliome v0.2120 PSMB4 Zornitza Stark Marked gene: PSMB4 as ready
Mendeliome v0.2120 PSMB4 Zornitza Stark Gene: psmb4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2120 PSMB4 Zornitza Stark Phenotypes for gene: PSMB4 were changed from to Proteasome-associated autoinflammatory syndrome 3 and digenic forms, MIM# 617591
Mendeliome v0.2119 PSMB4 Zornitza Stark Publications for gene: PSMB4 were set to
Mendeliome v0.2118 PSMB4 Zornitza Stark Mode of inheritance for gene: PSMB4 was changed from Unknown to Other
Mendeliome v0.2117 PSMB4 Zornitza Stark Classified gene: PSMB4 as Amber List (moderate evidence)
Mendeliome v0.2117 PSMB4 Zornitza Stark Gene: psmb4 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.55 PSMB4 Zornitza Stark Marked gene: PSMB4 as ready
Autoinflammatory Disorders v0.55 PSMB4 Zornitza Stark Gene: psmb4 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.55 PSMB4 Zornitza Stark Phenotypes for gene: PSMB4 were changed from to Proteasome-associated autoinflammatory syndrome 3 and digenic forms, MIM# 617591
Autoinflammatory Disorders v0.55 PSMB4 Zornitza Stark Publications for gene: PSMB4 were set to 26524591
Mendeliome v0.2116 PSMB4 Zornitza Stark reviewed gene: PSMB4: Rating: AMBER; Mode of pathogenicity: None; Publications: 26524591; Phenotypes: Proteasome-associated autoinflammatory syndrome 3 and digenic forms, MIM# 617591; Mode of inheritance: Other
Autoinflammatory Disorders v0.54 PSMB4 Zornitza Stark Publications for gene: PSMB4 were set to
Autoinflammatory Disorders v0.54 PSMB4 Zornitza Stark Mode of inheritance for gene: PSMB4 was changed from Unknown to Other
Autoinflammatory Disorders v0.53 PSMB4 Zornitza Stark Classified gene: PSMB4 as Amber List (moderate evidence)
Autoinflammatory Disorders v0.53 PSMB4 Zornitza Stark Gene: psmb4 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.52 PSMB4 Zornitza Stark reviewed gene: PSMB4: Rating: AMBER; Mode of pathogenicity: None; Publications: 26524591; Phenotypes: Proteasome-associated autoinflammatory syndrome 3 and digenic forms, MIM# 617591; Mode of inheritance: Other
Mendeliome v0.2116 PSMA3 Zornitza Stark Marked gene: PSMA3 as ready
Mendeliome v0.2116 PSMA3 Zornitza Stark Gene: psma3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2116 PSMA3 Zornitza Stark Publications for gene: PSMA3 were set to
Mendeliome v0.2115 PSMA3 Zornitza Stark Phenotypes for gene: PSMA3 were changed from to Proteasome-associated autoinflammatory syndrome 1 and digenic forms, MIM#256040
Mendeliome v0.2114 PSMA3 Zornitza Stark Mode of inheritance for gene: PSMA3 was changed from Unknown to Other
Mendeliome v0.2113 PSMA3 Zornitza Stark Classified gene: PSMA3 as Amber List (moderate evidence)
Mendeliome v0.2113 PSMA3 Zornitza Stark Gene: psma3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2112 PSMA3 Zornitza Stark reviewed gene: PSMA3: Rating: AMBER; Mode of pathogenicity: None; Publications: 26524591; Phenotypes: Proteasome-associated autoinflammatory syndrome 1 and digenic forms, MIM#256040; Mode of inheritance: Other
Autoinflammatory Disorders v0.52 PSMA3 Zornitza Stark Marked gene: PSMA3 as ready
Autoinflammatory Disorders v0.52 PSMA3 Zornitza Stark Gene: psma3 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.52 PSMA3 Zornitza Stark Phenotypes for gene: PSMA3 were changed from to Proteasome-associated autoinflammatory syndrome 1 and digenic forms, MIM#256040
Autoinflammatory Disorders v0.51 PSMA3 Zornitza Stark Publications for gene: PSMA3 were set to
Autoinflammatory Disorders v0.50 PSMA3 Zornitza Stark Mode of inheritance for gene: PSMA3 was changed from Unknown to Other
Autoinflammatory Disorders v0.49 PSMA3 Zornitza Stark Classified gene: PSMA3 as Amber List (moderate evidence)
Autoinflammatory Disorders v0.49 PSMA3 Zornitza Stark Gene: psma3 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.48 PSMA3 Zornitza Stark reviewed gene: PSMA3: Rating: AMBER; Mode of pathogenicity: None; Publications: 26524591; Phenotypes: Proteasome-associated autoinflammatory syndrome 1 and digenic forms, MIM#256040; Mode of inheritance: Other
Disorders of immune dysregulation v0.56 POMP Zornitza Stark Marked gene: POMP as ready
Disorders of immune dysregulation v0.56 POMP Zornitza Stark Gene: pomp has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.56 POMP Zornitza Stark Classified gene: POMP as Green List (high evidence)
Disorders of immune dysregulation v0.56 POMP Zornitza Stark Gene: pomp has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.55 POMP Zornitza Stark gene: POMP was added
gene: POMP was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: POMP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POMP were set to 29805043
Phenotypes for gene: POMP were set to Combined immunodeficiency; Autoinflammation
Review for gene: POMP was set to GREEN
Added comment: Two unrelated individuals, functional data. Truncating variants in penultimate exon, escape NMD, postulated to act through a dominant negative mechanism.
Sources: Expert list
Combined Immunodeficiency v0.119 POLE Zornitza Stark Marked gene: POLE as ready
Combined Immunodeficiency v0.119 POLE Zornitza Stark Gene: pole has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.119 POLE Zornitza Stark Phenotypes for gene: POLE were changed from to FILS syndrome, MIM# 615139; IMAGE-I syndrome, MIM# 618336
Combined Immunodeficiency v0.118 POLE Zornitza Stark Publications for gene: POLE were set to
Combined Immunodeficiency v0.117 POLE Zornitza Stark Tag deep intronic tag was added to gene: POLE.
Combined Immunodeficiency v0.117 POLE Zornitza Stark Mode of inheritance for gene: POLE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.116 POLE Zornitza Stark reviewed gene: POLE: Rating: GREEN; Mode of pathogenicity: None; Publications: 30503519, 23230001, 25948378; Phenotypes: FILS syndrome, MIM# 615139, IMAGE-I syndrome, MIM# 618336; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.120 PMS2 Zornitza Stark Marked gene: PMS2 as ready
Callosome v0.120 PMS2 Zornitza Stark Gene: pms2 has been classified as Amber List (Moderate Evidence).
Callosome v0.120 PMS2 Zornitza Stark Phenotypes for gene: PMS2 were changed from to Mismatch repair cancer syndrome, MIM# 276300
Callosome v0.119 PMS2 Zornitza Stark Publications for gene: PMS2 were set to
Callosome v0.118 PMS2 Zornitza Stark Mode of inheritance for gene: PMS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.117 PMS2 Zornitza Stark Classified gene: PMS2 as Amber List (moderate evidence)
Callosome v0.117 PMS2 Zornitza Stark Gene: pms2 has been classified as Amber List (Moderate Evidence).
Callosome v0.116 PMS2 Zornitza Stark reviewed gene: PMS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 22692065; Phenotypes: Mismatch repair cancer syndrome, MIM# 276300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.116 PMS2 Zornitza Stark Classified gene: PMS2 as Amber List (moderate evidence)
Combined Immunodeficiency v0.116 PMS2 Zornitza Stark Gene: pms2 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.115 PMS2 Zornitza Stark changed review comment from: Sources: Expert list; to: Immunodeficiency is a rare manifestation of CMMRD. Sources: Expert list
Combined Immunodeficiency v0.115 PMS2 Zornitza Stark edited their review of gene: PMS2: Changed rating: AMBER
Predominantly Antibody Deficiency v0.45 NFKBID Zornitza Stark Marked gene: NFKBID as ready
Predominantly Antibody Deficiency v0.45 NFKBID Zornitza Stark Gene: nfkbid has been classified as Red List (Low Evidence).
Predominantly Antibody Deficiency v0.45 NFKBID Zornitza Stark Publications for gene: NFKBID were set to
Predominantly Antibody Deficiency v0.44 NFKBID Zornitza Stark Classified gene: NFKBID as Red List (low evidence)
Predominantly Antibody Deficiency v0.44 NFKBID Zornitza Stark Gene: nfkbid has been classified as Red List (Low Evidence).
Predominantly Antibody Deficiency v0.43 NFKBID Zornitza Stark reviewed gene: NFKBID: Rating: RED; Mode of pathogenicity: None; Publications: 26973645, 25347393, 22761313; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.2112 NFKBID Zornitza Stark Marked gene: NFKBID as ready
Mendeliome v0.2112 NFKBID Zornitza Stark Gene: nfkbid has been classified as Red List (Low Evidence).
Mendeliome v0.2112 NFKBID Zornitza Stark Publications for gene: NFKBID were set to
Mendeliome v0.2111 NFKBID Zornitza Stark Classified gene: NFKBID as Red List (low evidence)
Mendeliome v0.2111 NFKBID Zornitza Stark Gene: nfkbid has been classified as Red List (Low Evidence).
Mendeliome v0.2110 NFKBID Zornitza Stark reviewed gene: NFKBID: Rating: RED; Mode of pathogenicity: None; Publications: 26973645, 25347393, 22761313; Phenotypes: ; Mode of inheritance: None
Combined Immunodeficiency v0.115 NFKBID Zornitza Stark Marked gene: NFKBID as ready
Combined Immunodeficiency v0.115 NFKBID Zornitza Stark Gene: nfkbid has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.115 NFKBID Zornitza Stark Publications for gene: NFKBID were set to
Combined Immunodeficiency v0.114 NFKBID Zornitza Stark Classified gene: NFKBID as Red List (low evidence)
Combined Immunodeficiency v0.114 NFKBID Zornitza Stark Gene: nfkbid has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.113 NFKBID Zornitza Stark reviewed gene: NFKBID: Rating: RED; Mode of pathogenicity: None; Publications: 26973645, 25347393, 22761313; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.2110 NFAT5 Zornitza Stark Marked gene: NFAT5 as ready
Mendeliome v0.2110 NFAT5 Zornitza Stark Gene: nfat5 has been classified as Red List (Low Evidence).
Mendeliome v0.2110 NFAT5 Zornitza Stark Phenotypes for gene: NFAT5 were changed from to Recurrent infections; Autoimmune enterocolopathy
Mendeliome v0.2109 NFAT5 Zornitza Stark Publications for gene: NFAT5 were set to
Mendeliome v0.2108 NFAT5 Zornitza Stark Mode of inheritance for gene: NFAT5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2107 NFAT5 Zornitza Stark Classified gene: NFAT5 as Red List (low evidence)
Mendeliome v0.2107 NFAT5 Zornitza Stark Gene: nfat5 has been classified as Red List (Low Evidence).
Mendeliome v0.2106 NFAT5 Zornitza Stark reviewed gene: NFAT5: Rating: RED; Mode of pathogenicity: None; Publications: 25667416; Phenotypes: Recurrent infections, Autoimmune enterocolopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disorders of immune dysregulation v0.54 NFAT5 Zornitza Stark Marked gene: NFAT5 as ready
Disorders of immune dysregulation v0.54 NFAT5 Zornitza Stark Gene: nfat5 has been classified as Red List (Low Evidence).
Disorders of immune dysregulation v0.54 NFAT5 Zornitza Stark Phenotypes for gene: NFAT5 were changed from to Recurrent infections; Autoimmune enterocolopathy
Disorders of immune dysregulation v0.53 NFAT5 Zornitza Stark Publications for gene: NFAT5 were set to 25667416
Disorders of immune dysregulation v0.53 NFAT5 Zornitza Stark Publications for gene: NFAT5 were set to
Disorders of immune dysregulation v0.52 NFAT5 Zornitza Stark Mode of inheritance for gene: NFAT5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disorders of immune dysregulation v0.51 NFAT5 Zornitza Stark Classified gene: NFAT5 as Red List (low evidence)
Disorders of immune dysregulation v0.51 NFAT5 Zornitza Stark Gene: nfat5 has been classified as Red List (Low Evidence).
Disorders of immune dysregulation v0.50 NFAT5 Zornitza Stark reviewed gene: NFAT5: Rating: RED; Mode of pathogenicity: None; Publications: 25667416; Phenotypes: Recurrent infections, Autoimmune enterocolopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2106 MS4A1 Zornitza Stark Marked gene: MS4A1 as ready
Mendeliome v0.2106 MS4A1 Zornitza Stark Gene: ms4a1 has been classified as Red List (Low Evidence).
Mendeliome v0.2106 MS4A1 Zornitza Stark Phenotypes for gene: MS4A1 were changed from to Immunodeficiency, common variable, 5, MIM# 613495
Mendeliome v0.2105 MS4A1 Zornitza Stark Publications for gene: MS4A1 were set to
Mendeliome v0.2104 MS4A1 Zornitza Stark Mode of inheritance for gene: MS4A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2103 MS4A1 Zornitza Stark Classified gene: MS4A1 as Red List (low evidence)
Mendeliome v0.2103 MS4A1 Zornitza Stark Gene: ms4a1 has been classified as Red List (Low Evidence).
Mendeliome v0.2103 MS4A1 Zornitza Stark Classified gene: MS4A1 as Red List (low evidence)
Mendeliome v0.2103 MS4A1 Zornitza Stark Gene: ms4a1 has been classified as Red List (Low Evidence).
Mendeliome v0.2102 MS4A1 Zornitza Stark reviewed gene: MS4A1: Rating: RED; Mode of pathogenicity: None; Publications: 20038800; Phenotypes: Immunodeficiency, common variable, 5, MIM# 613495; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.43 MS4A1 Zornitza Stark Marked gene: MS4A1 as ready
Predominantly Antibody Deficiency v0.43 MS4A1 Zornitza Stark Gene: ms4a1 has been classified as Red List (Low Evidence).
Predominantly Antibody Deficiency v0.43 MS4A1 Zornitza Stark Phenotypes for gene: MS4A1 were changed from to Immunodeficiency, common variable, 5, MIM# 613495
Predominantly Antibody Deficiency v0.42 MS4A1 Zornitza Stark Publications for gene: MS4A1 were set to
Predominantly Antibody Deficiency v0.41 MS4A1 Zornitza Stark Mode of inheritance for gene: MS4A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.40 MS4A1 Zornitza Stark Classified gene: MS4A1 as Red List (low evidence)
Predominantly Antibody Deficiency v0.40 MS4A1 Zornitza Stark Gene: ms4a1 has been classified as Red List (Low Evidence).
Predominantly Antibody Deficiency v0.39 MS4A1 Zornitza Stark reviewed gene: MS4A1: Rating: RED; Mode of pathogenicity: None; Publications: 20038800; Phenotypes: Immunodeficiency, common variable, 5, MIM# 613495; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2102 MASP2 Zornitza Stark Marked gene: MASP2 as ready
Mendeliome v0.2102 MASP2 Zornitza Stark Gene: masp2 has been classified as Red List (Low Evidence).
Mendeliome v0.2102 MASP2 Zornitza Stark Phenotypes for gene: MASP2 were changed from to MASP2 deficiency, MIM# 613791
Mendeliome v0.2101 MASP2 Zornitza Stark Mode of inheritance for gene: MASP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2100 MASP2 Zornitza Stark Classified gene: MASP2 as Red List (low evidence)
Mendeliome v0.2100 MASP2 Zornitza Stark Gene: masp2 has been classified as Red List (Low Evidence).
Mendeliome v0.2099 MASP2 Zornitza Stark reviewed gene: MASP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: MASP2 deficiency, MIM# 613791; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.31 MASP2 Zornitza Stark Marked gene: MASP2 as ready
Complement Deficiencies v0.31 MASP2 Zornitza Stark Gene: masp2 has been classified as Red List (Low Evidence).
Complement Deficiencies v0.31 MASP2 Zornitza Stark Phenotypes for gene: MASP2 were changed from to MASP2 deficiency, MIM# 613791
Complement Deficiencies v0.30 MASP2 Zornitza Stark Mode of inheritance for gene: MASP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.29 MASP2 Zornitza Stark Classified gene: MASP2 as Red List (low evidence)
Complement Deficiencies v0.29 MASP2 Zornitza Stark Gene: masp2 has been classified as Red List (Low Evidence).
Complement Deficiencies v0.28 MASP2 Zornitza Stark reviewed gene: MASP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: MASP2 deficiency, MIM# 613791; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2099 ITGAM Zornitza Stark Marked gene: ITGAM as ready
Mendeliome v0.2099 ITGAM Zornitza Stark Gene: itgam has been classified as Red List (Low Evidence).
Mendeliome v0.2099 ITGAM Zornitza Stark Classified gene: ITGAM as Red List (low evidence)
Mendeliome v0.2099 ITGAM Zornitza Stark Gene: itgam has been classified as Red List (Low Evidence).
Mendeliome v0.2098 ITGAM Zornitza Stark reviewed gene: ITGAM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Complement Deficiencies v0.28 ITGAM Zornitza Stark Marked gene: ITGAM as ready
Complement Deficiencies v0.28 ITGAM Zornitza Stark Gene: itgam has been classified as Red List (Low Evidence).
Complement Deficiencies v0.28 ITGAM Zornitza Stark Classified gene: ITGAM as Red List (low evidence)
Complement Deficiencies v0.28 ITGAM Zornitza Stark Gene: itgam has been classified as Red List (Low Evidence).
Complement Deficiencies v0.27 ITGAM Zornitza Stark reviewed gene: ITGAM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.2098 IRF7 Zornitza Stark Marked gene: IRF7 as ready
Mendeliome v0.2098 IRF7 Zornitza Stark Gene: irf7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2098 IRF7 Zornitza Stark Phenotypes for gene: IRF7 were changed from to Immunodeficiency 39, MIM# 616345
Mendeliome v0.2097 IRF7 Zornitza Stark Publications for gene: IRF7 were set to
Mendeliome v0.2096 IRF7 Zornitza Stark Mode of inheritance for gene: IRF7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2095 IRF7 Zornitza Stark Classified gene: IRF7 as Amber List (moderate evidence)
Mendeliome v0.2095 IRF7 Zornitza Stark Gene: irf7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2094 IRF7 Zornitza Stark reviewed gene: IRF7: Rating: AMBER; Mode of pathogenicity: None; Publications: 25814066, 15800576; Phenotypes: Immunodeficiency 39, MIM# 616345; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.30 IRF7 Zornitza Stark Marked gene: IRF7 as ready
Susceptibility to Viral Infections v0.30 IRF7 Zornitza Stark Gene: irf7 has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.30 IRF7 Zornitza Stark Phenotypes for gene: IRF7 were changed from to Immunodeficiency 39, MIM# 616345
Susceptibility to Viral Infections v0.29 IRF7 Zornitza Stark Publications for gene: IRF7 were set to
Susceptibility to Viral Infections v0.28 IRF7 Zornitza Stark Mode of inheritance for gene: IRF7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.33 IRF7 Zornitza Stark Marked gene: IRF7 as ready
Defects of intrinsic and innate immunity v0.33 IRF7 Zornitza Stark Gene: irf7 has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.33 IRF7 Zornitza Stark Phenotypes for gene: IRF7 were changed from to Immunodeficiency 39, MIM# 616345
Susceptibility to Viral Infections v0.27 IRF7 Zornitza Stark Classified gene: IRF7 as Amber List (moderate evidence)
Susceptibility to Viral Infections v0.27 IRF7 Zornitza Stark Gene: irf7 has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.26 IRF7 Zornitza Stark reviewed gene: IRF7: Rating: AMBER; Mode of pathogenicity: None; Publications: 25814066, 15800576; Phenotypes: Immunodeficiency 39, MIM# 616345; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.32 IRF7 Zornitza Stark Publications for gene: IRF7 were set to
Defects of intrinsic and innate immunity v0.31 IRF7 Zornitza Stark Mode of inheritance for gene: IRF7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.30 IRF7 Zornitza Stark Classified gene: IRF7 as Amber List (moderate evidence)
Defects of intrinsic and innate immunity v0.30 IRF7 Zornitza Stark Gene: irf7 has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.29 IRF7 Zornitza Stark reviewed gene: IRF7: Rating: AMBER; Mode of pathogenicity: None; Publications: 25814066, 15800576; Phenotypes: Immunodeficiency 39, MIM# 616345; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy v0.28 DMD Zornitza Stark Marked gene: DMD as ready
Dilated Cardiomyopathy v0.28 DMD Zornitza Stark Gene: dmd has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.28 DMD Zornitza Stark Phenotypes for gene: DMD were changed from to Cardiomyopathy, dilated, 3B (MIM#302045)
Dilated Cardiomyopathy v0.27 DMD Zornitza Stark Publications for gene: DMD were set to
Dilated Cardiomyopathy v0.26 DMD Zornitza Stark Mode of inheritance for gene: DMD 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)
Cutis Laxa v0.0 PTDSS1 Bryony Thompson gene: PTDSS1 was added
gene: PTDSS1 was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: PTDSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PTDSS1 were set to Lenz-Majewski hyperostotic dwarfism MIM#151050
Cutis Laxa v0.0 SLC2A10 Bryony Thompson gene: SLC2A10 was added
gene: SLC2A10 was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A10 were set to Arterial tortuosity syndrome MIM#208050
Cutis Laxa v0.0 RIN2 Bryony Thompson gene: RIN2 was added
gene: RIN2 was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: RIN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RIN2 were set to Macrocephaly, alopecia, cutis laxa, and scoliosis MIM#613075
Cutis Laxa v0.0 GORAB Bryony Thompson gene: GORAB was added
gene: GORAB was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GORAB were set to Geroderma osteodysplasticum MIM#231070
Cutis Laxa v0.0 PYCR1 Bryony Thompson gene: PYCR1 was added
gene: PYCR1 was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYCR1 were set to Cutis laxa, autosomal recessive, type IIB MIM#612940; Cutis laxa, autosomal recessive, type IIIB MIM#614438
Cutis Laxa v0.0 LTBP4 Bryony Thompson gene: LTBP4 was added
gene: LTBP4 was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: LTBP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LTBP4 were set to Cutis laxa, autosomal recessive, type IC MIM#613177
Cutis Laxa v0.0 FBLN5 Bryony Thompson gene: FBLN5 was added
gene: FBLN5 was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: FBLN5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FBLN5 were set to Cutis laxa, autosomal recessive, type IA MIM#219100; ?Cutis laxa, autosomal dominant 2 MIM#614434
Cutis Laxa v0.0 ELN Bryony Thompson gene: ELN was added
gene: ELN was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ELN were set to Cutis laxa, autosomal dominant MIM#123700
Cutis Laxa v0.0 EFEMP2 Bryony Thompson gene: EFEMP2 was added
gene: EFEMP2 was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EFEMP2 were set to Cutis laxa, autosomal recessive, type IB MIM#614437
Cutis Laxa v0.0 ATP7A Bryony Thompson gene: ATP7A was added
gene: ATP7A was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATP7A were set to Occipital horn syndrome MIM#304150
Cutis Laxa v0.0 ATP6V0A2 Bryony Thompson gene: ATP6V0A2 was added
gene: ATP6V0A2 was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP6V0A2 were set to Cutis laxa, autosomal recessive, type IIA MIM#219200; Wrinkly skin syndrome MIM#278250
Cutis Laxa v0.0 ALDH18A1 Bryony Thompson gene: ALDH18A1 was added
gene: ALDH18A1 was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: ALDH18A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH18A1 were set to Cutis laxa, autosomal recessive, type IIIA MIM#219150
Cutis Laxa v0.0 Bryony Thompson Added panel Cutis Laxa
Mendeliome v0.2094 IL21 Zornitza Stark Marked gene: IL21 as ready
Mendeliome v0.2094 IL21 Zornitza Stark Gene: il21 has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.113 IL21 Zornitza Stark Marked gene: IL21 as ready
Combined Immunodeficiency v0.113 IL21 Zornitza Stark Gene: il21 has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.113 IL21 Zornitza Stark Phenotypes for gene: IL21 were changed from to Immunodeficiency, common variable, 11, MIM# 615767
Mendeliome v0.2094 IL21 Zornitza Stark Phenotypes for gene: IL21 were changed from to Immunodeficiency, common variable, 11, MIM# 615767
Mendeliome v0.2093 IL21 Zornitza Stark Publications for gene: IL21 were set to
Mendeliome v0.2092 IL21 Zornitza Stark Mode of inheritance for gene: IL21 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2091 IL21 Zornitza Stark Classified gene: IL21 as Red List (low evidence)
Mendeliome v0.2091 IL21 Zornitza Stark Gene: il21 has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.112 IL21 Zornitza Stark Publications for gene: IL21 were set to
Mendeliome v0.2090 IL21 Zornitza Stark reviewed gene: IL21: Rating: RED; Mode of pathogenicity: None; Publications: 24746753; Phenotypes: Immunodeficiency, common variable, 11, MIM# 615767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.111 IL21 Zornitza Stark Mode of inheritance for gene: IL21 was changed from Unknown to Unknown
Combined Immunodeficiency v0.110 IL21 Zornitza Stark Classified gene: IL21 as Red List (low evidence)
Combined Immunodeficiency v0.110 IL21 Zornitza Stark Gene: il21 has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.109 IL21 Zornitza Stark reviewed gene: IL21: Rating: RED; Mode of pathogenicity: None; Publications: 24746753; Phenotypes: Immunodeficiency, common variable, 11, MIM# 615767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2090 IL17F Zornitza Stark Marked gene: IL17F as ready
Mendeliome v0.2090 IL17F Zornitza Stark Gene: il17f has been classified as Red List (Low Evidence).
Mendeliome v0.2090 IL17F Zornitza Stark Phenotypes for gene: IL17F were changed from to Candidiasis, familial, 6, autosomal dominant, MIM# 613956
Mendeliome v0.2089 IL17F Zornitza Stark Publications for gene: IL17F were set to
Mendeliome v0.2088 IL17F Zornitza Stark Mode of inheritance for gene: IL17F was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2087 IL17F Zornitza Stark Classified gene: IL17F as Red List (low evidence)
Mendeliome v0.2087 IL17F Zornitza Stark Gene: il17f has been classified as Red List (Low Evidence).
Mendeliome v0.2086 IL17F Zornitza Stark reviewed gene: IL17F: Rating: RED; Mode of pathogenicity: None; Publications: 21350122; Phenotypes: Candidiasis, familial, 6, autosomal dominant, MIM# 613956; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Defects of intrinsic and innate immunity v0.29 IL17F Zornitza Stark Phenotypes for gene: IL17F were changed from to Candidiasis, familial, 6, autosomal dominant, MIM# 613956
Defects of intrinsic and innate immunity v0.28 IL17F Zornitza Stark Publications for gene: IL17F were set to
Defects of intrinsic and innate immunity v0.27 IL17F Zornitza Stark Mode of inheritance for gene: IL17F was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Defects of intrinsic and innate immunity v0.26 IL17F Zornitza Stark Classified gene: IL17F as Red List (low evidence)
Defects of intrinsic and innate immunity v0.26 IL17F Zornitza Stark Gene: il17f has been classified as Red List (Low Evidence).
Defects of intrinsic and innate immunity v0.25 IL17F Zornitza Stark reviewed gene: IL17F: Rating: RED; Mode of pathogenicity: None; Publications: 21350122; Phenotypes: Candidiasis, familial, 6, autosomal dominant, MIM# 613956; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phagocyte Defects v0.35 FPR1 Zornitza Stark Marked gene: FPR1 as ready
Phagocyte Defects v0.35 FPR1 Zornitza Stark Gene: fpr1 has been classified as Red List (Low Evidence).
Phagocyte Defects v0.35 FPR1 Zornitza Stark Phenotypes for gene: FPR1 were changed from to Periodontitis
Phagocyte Defects v0.34 FPR1 Zornitza Stark Publications for gene: FPR1 were set to
Phagocyte Defects v0.33 FPR1 Zornitza Stark Classified gene: FPR1 as Red List (low evidence)
Phagocyte Defects v0.33 FPR1 Zornitza Stark Gene: fpr1 has been classified as Red List (Low Evidence).
Phagocyte Defects v0.32 FPR1 Zornitza Stark reviewed gene: FPR1: Rating: RED; Mode of pathogenicity: None; Publications: 29105764, 28371599; Phenotypes: Periodontitis; Mode of inheritance: None
Mendeliome v0.2086 FPR1 Zornitza Stark Marked gene: FPR1 as ready
Mendeliome v0.2086 FPR1 Zornitza Stark Gene: fpr1 has been classified as Red List (Low Evidence).
Mendeliome v0.2086 FPR1 Zornitza Stark Phenotypes for gene: FPR1 were changed from to Periodontitis
Mendeliome v0.2085 FPR1 Zornitza Stark Publications for gene: FPR1 were set to
Mendeliome v0.2084 FPR1 Zornitza Stark Classified gene: FPR1 as Red List (low evidence)
Mendeliome v0.2084 FPR1 Zornitza Stark Gene: fpr1 has been classified as Red List (Low Evidence).
Mendeliome v0.2083 FPR1 Zornitza Stark reviewed gene: FPR1: Rating: RED; Mode of pathogenicity: None; Publications: 29105764, 28371599; Phenotypes: Periodontitis; Mode of inheritance: None
Mendeliome v0.2083 FCN3 Zornitza Stark Marked gene: FCN3 as ready
Mendeliome v0.2083 FCN3 Zornitza Stark Gene: fcn3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2083 FCN3 Zornitza Stark Phenotypes for gene: FCN3 were changed from to Immunodeficiency due to ficolin 3 deficiency, MIM# 613860
Mendeliome v0.2082 FCN3 Zornitza Stark Publications for gene: FCN3 were set to
Mendeliome v0.2081 FCN3 Zornitza Stark Mode of inheritance for gene: FCN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2080 FCN3 Zornitza Stark Classified gene: FCN3 as Amber List (moderate evidence)
Mendeliome v0.2080 FCN3 Zornitza Stark Gene: fcn3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2079 FCN3 Zornitza Stark reviewed gene: FCN3: Rating: AMBER; Mode of pathogenicity: None; Publications: 25662573, 22226667, 19535802, 20971976; Phenotypes: Immunodeficiency due to ficolin 3 deficiency, MIM# 613860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.27 FCN3 Zornitza Stark Marked gene: FCN3 as ready
Complement Deficiencies v0.27 FCN3 Zornitza Stark Gene: fcn3 has been classified as Amber List (Moderate Evidence).
Complement Deficiencies v0.27 FCN3 Zornitza Stark Phenotypes for gene: FCN3 were changed from to Immunodeficiency due to ficolin 3 deficiency, MIM# 613860
Complement Deficiencies v0.26 FCN3 Zornitza Stark Publications for gene: FCN3 were set to
Complement Deficiencies v0.25 FCN3 Zornitza Stark Mode of inheritance for gene: FCN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.24 FCN3 Zornitza Stark Classified gene: FCN3 as Amber List (moderate evidence)
Complement Deficiencies v0.24 FCN3 Zornitza Stark Gene: fcn3 has been classified as Amber List (Moderate Evidence).
Complement Deficiencies v0.23 FCN3 Zornitza Stark reviewed gene: FCN3: Rating: AMBER; Mode of pathogenicity: None; Publications: 25662573, 22226667, 19535802, 20971976; Phenotypes: Immunodeficiency due to ficolin 3 deficiency, MIM# 613860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2079 FCGR3A Zornitza Stark Marked gene: FCGR3A as ready
Mendeliome v0.2079 FCGR3A Zornitza Stark Gene: fcgr3a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2079 FCGR3A Zornitza Stark Phenotypes for gene: FCGR3A were changed from to Immunodeficiency 20, MIM# 615707
Mendeliome v0.2078 FCGR3A Zornitza Stark Publications for gene: FCGR3A were set to
Mendeliome v0.2077 FCGR3A Zornitza Stark Mode of inheritance for gene: FCGR3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2076 FCGR3A Zornitza Stark Classified gene: FCGR3A as Amber List (moderate evidence)
Mendeliome v0.2076 FCGR3A Zornitza Stark Gene: fcgr3a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2075 FCGR3A Zornitza Stark reviewed gene: FCGR3A: Rating: AMBER; Mode of pathogenicity: None; Publications: 8874200, 23006327, 8608639; Phenotypes: Immunodeficiency 20, MIM# 615707; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.26 FCGR3A Zornitza Stark Marked gene: FCGR3A as ready
Susceptibility to Viral Infections v0.26 FCGR3A Zornitza Stark Gene: fcgr3a has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.26 FCGR3A Zornitza Stark Phenotypes for gene: FCGR3A were changed from to Immunodeficiency 20, MIM# 615707
Susceptibility to Viral Infections v0.25 FCGR3A Zornitza Stark Publications for gene: FCGR3A were set to
Susceptibility to Viral Infections v0.24 FCGR3A Zornitza Stark Mode of inheritance for gene: FCGR3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.23 FCGR3A Zornitza Stark Classified gene: FCGR3A as Amber List (moderate evidence)
Susceptibility to Viral Infections v0.23 FCGR3A Zornitza Stark Gene: fcgr3a has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.22 FCGR3A Zornitza Stark reviewed gene: FCGR3A: Rating: AMBER; Mode of pathogenicity: None; Publications: 8874200, 23006327, 8608639; Phenotypes: Immunodeficiency 20, MIM# 615707; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.25 FCGR3A Zornitza Stark Marked gene: FCGR3A as ready
Defects of intrinsic and innate immunity v0.25 FCGR3A Zornitza Stark Gene: fcgr3a has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.25 FCGR3A Zornitza Stark Phenotypes for gene: FCGR3A were changed from to Immunodeficiency 20, MIM# 615707
Defects of intrinsic and innate immunity v0.24 FCGR3A Zornitza Stark Publications for gene: FCGR3A were set to
Defects of intrinsic and innate immunity v0.23 FCGR3A Zornitza Stark Mode of inheritance for gene: FCGR3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.22 FCGR3A Zornitza Stark Classified gene: FCGR3A as Amber List (moderate evidence)
Defects of intrinsic and innate immunity v0.22 FCGR3A Zornitza Stark Gene: fcgr3a has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.21 FCGR3A Zornitza Stark reviewed gene: FCGR3A: Rating: AMBER; Mode of pathogenicity: None; Publications: 8874200, 23006327, 8608639; Phenotypes: Immunodeficiency 20, MIM# 615707; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.21 EPCAM Zornitza Stark Marked gene: EPCAM as ready
Inflammatory bowel disease v0.21 EPCAM Zornitza Stark Gene: epcam has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.21 EPCAM Zornitza Stark Phenotypes for gene: EPCAM were changed from to Diarrhea 5, with tufting enteropathy, congenital, MIM# 613217
Inflammatory bowel disease v0.20 EPCAM Zornitza Stark Publications for gene: EPCAM were set to
Inflammatory bowel disease v0.19 EPCAM Zornitza Stark Mode of inheritance for gene: EPCAM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.18 EPCAM Zornitza Stark Classified gene: EPCAM as Amber List (moderate evidence)
Inflammatory bowel disease v0.18 EPCAM Zornitza Stark Gene: epcam has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.17 EPCAM Zornitza Stark reviewed gene: EPCAM: Rating: AMBER; Mode of pathogenicity: None; Publications: 27302973; Phenotypes: Diarrhea 5, with tufting enteropathy, congenital, MIM# 613217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.39 CR2 Zornitza Stark Marked gene: CR2 as ready
Predominantly Antibody Deficiency v0.39 CR2 Zornitza Stark Gene: cr2 has been classified as Amber List (Moderate Evidence).
Predominantly Antibody Deficiency v0.39 CR2 Zornitza Stark Phenotypes for gene: CR2 were changed from to Immunodeficiency, common variable, 7, MIM# 614699
Predominantly Antibody Deficiency v0.38 CR2 Zornitza Stark Publications for gene: CR2 were set to
Predominantly Antibody Deficiency v0.37 CR2 Zornitza Stark Mode of inheritance for gene: CR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.36 CR2 Zornitza Stark Classified gene: CR2 as Amber List (moderate evidence)
Predominantly Antibody Deficiency v0.36 CR2 Zornitza Stark Gene: cr2 has been classified as Amber List (Moderate Evidence).
Predominantly Antibody Deficiency v0.35 CR2 Zornitza Stark reviewed gene: CR2: Rating: AMBER; Mode of pathogenicity: None; Publications: 22035880, 26325596; Phenotypes: Immunodeficiency, common variable, 7, MIM# 614699; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2075 CR2 Zornitza Stark Marked gene: CR2 as ready
Mendeliome v0.2075 CR2 Zornitza Stark Gene: cr2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2075 CR2 Zornitza Stark Publications for gene: CR2 were set to
Mendeliome v0.2074 CR2 Zornitza Stark Phenotypes for gene: CR2 were changed from to Immunodeficiency, common variable, 7, MIM# 614699
Mendeliome v0.2073 CR2 Zornitza Stark Mode of inheritance for gene: CR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy v0.25 DMD Crystle Lee reviewed gene: DMD: Rating: GREEN; Mode of pathogenicity: None; Publications: 26066469; Phenotypes: Cardiomyopathy, dilated, 3B (MIM#302045); 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 v0.2072 CR2 Zornitza Stark Classified gene: CR2 as Amber List (moderate evidence)
Mendeliome v0.2072 CR2 Zornitza Stark Gene: cr2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2071 CR2 Zornitza Stark reviewed gene: CR2: Rating: AMBER; Mode of pathogenicity: None; Publications: 22035880, 26325596; Phenotypes: Immunodeficiency, common variable, 7, MIM# 614699; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.6 DMD Crystle Lee reviewed gene: DMD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Duchenne muscular dystrophy (MIM#310200), Becker muscular dystrophy (MIM#300376); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Inflammatory bowel disease v0.17 COL7A1 Zornitza Stark Marked gene: COL7A1 as ready
Inflammatory bowel disease v0.17 COL7A1 Zornitza Stark Gene: col7a1 has been classified as Red List (Low Evidence).
Inflammatory bowel disease v0.17 COL7A1 Zornitza Stark Phenotypes for gene: COL7A1 were changed from to Epidermolysis bullosa dystrophica, AR, MIM# 226600
Inflammatory bowel disease v0.16 COL7A1 Zornitza Stark Publications for gene: COL7A1 were set to
Inflammatory bowel disease v0.15 COL7A1 Zornitza Stark Mode of inheritance for gene: COL7A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.14 COL7A1 Zornitza Stark Classified gene: COL7A1 as Red List (low evidence)
Inflammatory bowel disease v0.14 COL7A1 Zornitza Stark Gene: col7a1 has been classified as Red List (Low Evidence).
Inflammatory bowel disease v0.13 COL7A1 Zornitza Stark reviewed gene: COL7A1: Rating: RED; Mode of pathogenicity: None; Publications: 27537055, 25058236; Phenotypes: Epidermolysis bullosa dystrophica, AR, MIM# 226600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.23 CFHR5 Zornitza Stark Marked gene: CFHR5 as ready
Complement Deficiencies v0.23 CFHR5 Zornitza Stark Gene: cfhr5 has been classified as Red List (Low Evidence).
Complement Deficiencies v0.23 CFHR5 Zornitza Stark Phenotypes for gene: CFHR5 were changed from to Nephropathy due to CFHR5 deficiency, MIM# 614809
Complement Deficiencies v0.22 CFHR5 Zornitza Stark Classified gene: CFHR5 as Red List (low evidence)
Complement Deficiencies v0.22 CFHR5 Zornitza Stark Gene: cfhr5 has been classified as Red List (Low Evidence).
Complement Deficiencies v0.21 CFHR5 Zornitza Stark reviewed gene: CFHR5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephropathy due to CFHR5 deficiency, MIM# 614809; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2071 CFHR4 Zornitza Stark Marked gene: CFHR4 as ready
Mendeliome v0.2071 CFHR4 Zornitza Stark Gene: cfhr4 has been classified as Red List (Low Evidence).
Mendeliome v0.2071 CFHR4 Zornitza Stark Classified gene: CFHR4 as Red List (low evidence)
Mendeliome v0.2071 CFHR4 Zornitza Stark Gene: cfhr4 has been classified as Red List (Low Evidence).
Mendeliome v0.2070 CFHR4 Zornitza Stark reviewed gene: CFHR4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Complement Deficiencies v0.21 CFHR4 Zornitza Stark Marked gene: CFHR4 as ready
Complement Deficiencies v0.21 CFHR4 Zornitza Stark Gene: cfhr4 has been classified as Red List (Low Evidence).
Complement Deficiencies v0.21 CFHR4 Zornitza Stark Classified gene: CFHR4 as Red List (low evidence)
Complement Deficiencies v0.21 CFHR4 Zornitza Stark Gene: cfhr4 has been classified as Red List (Low Evidence).
Complement Deficiencies v0.20 CFHR4 Zornitza Stark changed review comment from: Association is with aHUS, gene is on aHUS panel.; to: No Mendelian gene disease association I can find.
Complement Deficiencies v0.20 CFHR4 Zornitza Stark reviewed gene: CFHR4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Susceptibility to atypical haemolytic uraemic syndrome; Mode of inheritance: None
Complement Deficiencies v0.20 CFHR3 Zornitza Stark Marked gene: CFHR3 as ready
Complement Deficiencies v0.20 CFHR3 Zornitza Stark Gene: cfhr3 has been classified as Red List (Low Evidence).
Complement Deficiencies v0.20 CFHR3 Zornitza Stark Phenotypes for gene: CFHR3 were changed from to {Hemolytic uremic syndrome, atypical, susceptibility to}, MIM# 235400
Complement Deficiencies v0.19 CFHR3 Zornitza Stark Mode of inheritance for gene: CFHR3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Complement Deficiencies v0.18 CFHR3 Zornitza Stark Classified gene: CFHR3 as Red List (low evidence)
Complement Deficiencies v0.18 CFHR3 Zornitza Stark Gene: cfhr3 has been classified as Red List (Low Evidence).
Complement Deficiencies v0.17 CFHR3 Zornitza Stark reviewed gene: CFHR3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to}, MIM# 235400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2070 CFHR2 Zornitza Stark Marked gene: CFHR2 as ready
Mendeliome v0.2070 CFHR2 Zornitza Stark Gene: cfhr2 has been classified as Green List (High Evidence).
Mendeliome v0.2070 CFHR2 Zornitza Stark Phenotypes for gene: CFHR2 were changed from to C3 glomerulopathy; C3G; Immune complex MPGN; IC-MPGN
Mendeliome v0.2069 CFHR2 Zornitza Stark Publications for gene: CFHR2 were set to
Mendeliome v0.2068 CFHR2 Zornitza Stark Mode of inheritance for gene: CFHR2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2067 CFHR2 Zornitza Stark Tag SV/CNV tag was added to gene: CFHR2.
Mendeliome v0.2067 CFHR2 Zornitza Stark reviewed gene: CFHR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24334459, 23728178, 20800271; Phenotypes: C3 glomerulopathy, C3G, Immune complex MPGN, IC-MPGN; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Complement Deficiencies v0.17 CFHR2 Zornitza Stark Tag SV/CNV tag was added to gene: CFHR2.
Complement Deficiencies v0.17 CFHR2 Zornitza Stark Marked gene: CFHR2 as ready
Complement Deficiencies v0.17 CFHR2 Zornitza Stark Gene: cfhr2 has been classified as Red List (Low Evidence).
Complement Deficiencies v0.17 CFHR2 Zornitza Stark Phenotypes for gene: CFHR2 were changed from to C3 glomerulopathy; C3G; Immune complex MPGN; IC-MPGN
Complement Deficiencies v0.16 CFHR2 Zornitza Stark Publications for gene: CFHR2 were set to
Complement Deficiencies v0.15 CFHR2 Zornitza Stark Mode of inheritance for gene: CFHR2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Complement Deficiencies v0.14 CFHR2 Zornitza Stark Classified gene: CFHR2 as Red List (low evidence)
Complement Deficiencies v0.14 CFHR2 Zornitza Stark Gene: cfhr2 has been classified as Red List (Low Evidence).
Complement Deficiencies v0.13 CFHR2 Zornitza Stark reviewed gene: CFHR2: Rating: RED; Mode of pathogenicity: None; Publications: 24334459, 23728178, 20800271; Phenotypes: C3 glomerulopathy, C3G, Immune complex MPGN, IC-MPGN; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Complement Deficiencies v0.13 CFHR1 Zornitza Stark Marked gene: CFHR1 as ready
Complement Deficiencies v0.13 CFHR1 Zornitza Stark Gene: cfhr1 has been classified as Red List (Low Evidence).
Complement Deficiencies v0.13 CFHR1 Zornitza Stark Classified gene: CFHR1 as Red List (low evidence)
Complement Deficiencies v0.13 CFHR1 Zornitza Stark Gene: cfhr1 has been classified as Red List (Low Evidence).
Complement Deficiencies v0.12 CFHR1 Zornitza Stark reviewed gene: CFHR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.2067 CFB Zornitza Stark Phenotypes for gene: CFB were changed from Complement factor B deficiency, MIM# 615561 to Complement factor B deficiency, MIM# 615561; {Hemolytic uremic syndrome, atypical, susceptibility to, 4} 612924
Mendeliome v0.2066 CFB Zornitza Stark Publications for gene: CFB were set to 24152280
Mendeliome v0.2065 CFB Zornitza Stark Mode of inheritance for gene: CFB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2064 CFB Zornitza Stark Classified gene: CFB as Green List (high evidence)
Mendeliome v0.2064 CFB Zornitza Stark Gene: cfb has been classified as Green List (High Evidence).
Mendeliome v0.2063 CFB Zornitza Stark changed review comment from: Single individual reported, supportive immunophenotyping data.; to: Single individual reported with bi-allelic variants and complement deficiency, supportive immunophenotyping data. Mono-allelic variants linked to susceptibility to aHUS.
Mendeliome v0.2063 CFB Zornitza Stark edited their review of gene: CFB: Changed rating: GREEN; Changed publications: 24152280, 17182750; Changed phenotypes: Complement factor B deficiency, MIM# 615561, {Hemolytic uremic syndrome, atypical, susceptibility to, 4} 612924; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2063 CFB Zornitza Stark Marked gene: CFB as ready
Mendeliome v0.2063 CFB Zornitza Stark Gene: cfb has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2063 CFB Zornitza Stark Phenotypes for gene: CFB were changed from to Complement factor B deficiency, MIM# 615561
Mendeliome v0.2062 CFB Zornitza Stark Publications for gene: CFB were set to
Mendeliome v0.2061 CFB Zornitza Stark Mode of inheritance for gene: CFB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2060 CFB Zornitza Stark Classified gene: CFB as Amber List (moderate evidence)
Mendeliome v0.2060 CFB Zornitza Stark Gene: cfb has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2059 CFB Zornitza Stark reviewed gene: CFB: Rating: AMBER; Mode of pathogenicity: None; Publications: 24152280; Phenotypes: Complement factor B deficiency, MIM# 615561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.12 CFB Zornitza Stark Phenotypes for gene: CFB were changed from to Complement factor B deficiency, MIM# 615561
Complement Deficiencies v0.11 CFB Zornitza Stark Publications for gene: CFB were set to
Complement Deficiencies v0.10 CFB Zornitza Stark Mode of inheritance for gene: CFB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.9 CFB Zornitza Stark Classified gene: CFB as Amber List (moderate evidence)
Complement Deficiencies v0.9 CFB Zornitza Stark Gene: cfb has been classified as Amber List (Moderate Evidence).
Complement Deficiencies v0.8 CFB Zornitza Stark reviewed gene: CFB: Rating: AMBER; Mode of pathogenicity: None; Publications: 24152280; Phenotypes: Complement factor B deficiency, MIM# 615561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.109 CD8A Zornitza Stark Marked gene: CD8A as ready
Combined Immunodeficiency v0.109 CD8A Zornitza Stark Gene: cd8a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2059 CD8A Zornitza Stark Marked gene: CD8A as ready
Mendeliome v0.2059 CD8A Zornitza Stark Gene: cd8a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2059 CD8A Zornitza Stark Phenotypes for gene: CD8A were changed from to CD8 deficiency, familial, MIM# 608957
Combined Immunodeficiency v0.109 CD8A Zornitza Stark Publications for gene: CD8A were set to
Mendeliome v0.2058 CD8A Zornitza Stark Publications for gene: CD8A were set to
Mendeliome v0.2057 CD8A Zornitza Stark Mode of inheritance for gene: CD8A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2056 CD8A Zornitza Stark Classified gene: CD8A as Amber List (moderate evidence)
Mendeliome v0.2056 CD8A Zornitza Stark Gene: cd8a has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.108 CD8A Zornitza Stark Phenotypes for gene: CD8A were changed from to CD8 deficiency, familial, MIM# 608957
Mendeliome v0.2055 CD8A Zornitza Stark reviewed gene: CD8A: Rating: AMBER; Mode of pathogenicity: None; Publications: 11435463, 17658607, 26563160; Phenotypes: CD8 deficiency, familial, MIM# 608957; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.107 CD8A Zornitza Stark Mode of inheritance for gene: CD8A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.106 CD8A Zornitza Stark Classified gene: CD8A as Amber List (moderate evidence)
Combined Immunodeficiency v0.106 CD8A Zornitza Stark Gene: cd8a has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.105 CD8A Zornitza Stark edited their review of gene: CD8A: Changed rating: AMBER
Combined Immunodeficiency v0.105 CD8A Zornitza Stark reviewed gene: CD8A: Rating: ; Mode of pathogenicity: None; Publications: 11435463, 17658607, 26563160; Phenotypes: CD8 deficiency, familial, MIM# 608957; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2055 CD81 Zornitza Stark Marked gene: CD81 as ready
Mendeliome v0.2055 CD81 Zornitza Stark Gene: cd81 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2055 CD81 Zornitza Stark Phenotypes for gene: CD81 were changed from to Immunodeficiency, common variable, 6, MIM# 613496
Mendeliome v0.2054 CD81 Zornitza Stark Publications for gene: CD81 were set to
Mendeliome v0.2053 CD81 Zornitza Stark Mode of inheritance for gene: CD81 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2052 CD81 Zornitza Stark Classified gene: CD81 as Amber List (moderate evidence)
Mendeliome v0.2052 CD81 Zornitza Stark Gene: cd81 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2051 CD81 Zornitza Stark reviewed gene: CD81: Rating: AMBER; Mode of pathogenicity: None; Publications: 20237408; Phenotypes: Immunodeficiency, common variable, 6, MIM# 613496; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.35 CD81 Zornitza Stark Marked gene: CD81 as ready
Predominantly Antibody Deficiency v0.35 CD81 Zornitza Stark Gene: cd81 has been classified as Amber List (Moderate Evidence).
Predominantly Antibody Deficiency v0.35 CD81 Zornitza Stark Phenotypes for gene: CD81 were changed from to Immunodeficiency, common variable, 6, MIM# 613496
Predominantly Antibody Deficiency v0.34 CD81 Zornitza Stark Publications for gene: CD81 were set to
Predominantly Antibody Deficiency v0.33 CD81 Zornitza Stark Mode of inheritance for gene: CD81 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.32 CD81 Zornitza Stark Classified gene: CD81 as Amber List (moderate evidence)
Predominantly Antibody Deficiency v0.32 CD81 Zornitza Stark Gene: cd81 has been classified as Amber List (Moderate Evidence).
Predominantly Antibody Deficiency v0.31 CD81 Zornitza Stark reviewed gene: CD81: Rating: AMBER; Mode of pathogenicity: None; Publications: 20237408; Phenotypes: Immunodeficiency, common variable, 6, MIM# 613496; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe Combined Immunodeficiency v0.17 CD247 Zornitza Stark Classified gene: CD247 as Green List (high evidence)
Severe Combined Immunodeficiency v0.17 CD247 Zornitza Stark Gene: cd247 has been classified as Green List (High Evidence).
Mendeliome v0.2051 CD247 Zornitza Stark Classified gene: CD247 as Green List (high evidence)
Mendeliome v0.2051 CD247 Zornitza Stark Gene: cd247 has been classified as Green List (High Evidence).
Mendeliome v0.2050 CD247 Zornitza Stark changed review comment from: Also known as CD3Z. Single individual reported with homozygous germline nonsense variant, which was present in some T cells, but others had the nonsense variant in combination with one of three different missense somatic variants.; to: Also known as CD3Z. Note one individual reported with homozygous germline nonsense variant, which was present in some T cells, but others had the nonsense variant in combination with one of three different missense somatic variants.
Mendeliome v0.2050 CD247 Zornitza Stark edited their review of gene: CD247: Added comment: Two reports in the literature, note additional two reports in ClinVar; functional data.; Changed rating: GREEN; Changed publications: 16672702, 17170122
Severe Combined Immunodeficiency v0.16 CD247 Zornitza Stark changed review comment from: Also known as CD3Z. Single individual reported with homozygous germline nonsense variant, which was present in some T cells, but others had the nonsense variant in combination with one of three different missense somatic variants.; to: Also known as CD3Z. Note one individual reported with homozygous germline nonsense variant, which was present in some T cells, but others had the nonsense variant in combination with one of three different missense somatic variants.
Severe Combined Immunodeficiency v0.16 CD247 Zornitza Stark edited their review of gene: CD247: Added comment: Two reports in the literature, note additional two reports in ClinVar; functional data.; Changed rating: GREEN; Changed publications: 16672702, 17170122
Mendeliome v0.2050 C8G Zornitza Stark Marked gene: C8G as ready
Mendeliome v0.2050 C8G Zornitza Stark Gene: c8g has been classified as Red List (Low Evidence).
Mendeliome v0.2050 C8G Zornitza Stark Classified gene: C8G as Red List (low evidence)
Mendeliome v0.2050 C8G Zornitza Stark Gene: c8g has been classified as Red List (Low Evidence).
Mendeliome v0.2049 C8G Zornitza Stark reviewed gene: C8G: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Complement Deficiencies v0.8 C8G Zornitza Stark Marked gene: C8G as ready
Complement Deficiencies v0.8 C8G Zornitza Stark Gene: c8g has been classified as Red List (Low Evidence).
Complement Deficiencies v0.8 C8G Zornitza Stark Classified gene: C8G as Red List (low evidence)
Complement Deficiencies v0.8 C8G Zornitza Stark Gene: c8g has been classified as Red List (Low Evidence).
Complement Deficiencies v0.7 C8G Zornitza Stark reviewed gene: C8G: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.2049 BLOC1S6 Zornitza Stark Marked gene: BLOC1S6 as ready
Mendeliome v0.2049 BLOC1S6 Zornitza Stark Gene: bloc1s6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2049 BLOC1S6 Zornitza Stark Phenotypes for gene: BLOC1S6 were changed from to Hermansky-Pudlak syndrome 9, MIM# 614171
Mendeliome v0.2048 BLOC1S6 Zornitza Stark Publications for gene: BLOC1S6 were set to
Mendeliome v0.2047 BLOC1S6 Zornitza Stark Mode of inheritance for gene: BLOC1S6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2046 BLOC1S6 Zornitza Stark Classified gene: BLOC1S6 as Amber List (moderate evidence)
Mendeliome v0.2046 BLOC1S6 Zornitza Stark Gene: bloc1s6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2045 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 v0.50 BLOC1S6 Zornitza Stark Classified gene: BLOC1S6 as Amber List (moderate evidence)
Disorders of immune dysregulation v0.50 BLOC1S6 Zornitza Stark Gene: bloc1s6 has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.49 BLOC1S6 Zornitza Stark edited their review of gene: BLOC1S6: Changed rating: AMBER
Disorders of immune dysregulation v0.49 BLOC1S6 Zornitza Stark changed review comment from: Same homozygous variant identified in two individuals with HPS, however, note that one of the articles has been retracted due to some of the data having been falsified.; to: Same homozygous variant identified in two individuals with HPS, however, note that one of the articles has been retracted due to some of the data having been falsified. Another individual reported in 32245340 but pigmentary and platelet abnormalities only.
Disorders of immune dysregulation v0.49 BLOC1S6 Zornitza Stark edited their review of gene: BLOC1S6: Changed publications: 22461475, 21665000, 32245340
Proteinuria v0.109 SGPL1 Zornitza Stark Marked gene: SGPL1 as ready
Proteinuria v0.109 SGPL1 Zornitza Stark Gene: sgpl1 has been classified as Green List (High Evidence).
Proteinuria v0.109 SGPL1 Zornitza Stark Phenotypes for gene: SGPL1 were changed from to Nephrotic syndrome, type 14, MIM# 617575
Proteinuria v0.108 SGPL1 Zornitza Stark Publications for gene: SGPL1 were set to
Proteinuria v0.107 SGPL1 Zornitza Stark Mode of inheritance for gene: SGPL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.106 SGPL1 Zornitza Stark reviewed gene: SGPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28165343, 28165339; Phenotypes: Nephrotic syndrome, type 14, MIM# 617575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.654 UBA5 Zornitza Stark Marked gene: UBA5 as ready
Genetic Epilepsy v0.654 UBA5 Zornitza Stark Gene: uba5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.654 UBA5 Zornitza Stark Publications for gene: UBA5 were set to 28965491; 27545674; 27545681
Genetic Epilepsy v0.653 UBA5 Zornitza Stark Phenotypes for gene: UBA5 were changed from to Epileptic encephalopathy, early infantile, 44 (MIM#617132)
Optic Atrophy v0.56 AUH Zornitza Stark Marked gene: AUH as ready
Optic Atrophy v0.56 AUH Zornitza Stark Gene: auh has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.56 AUH Zornitza Stark Phenotypes for gene: AUH were changed from 3-methylglutaconic aciduria, type I, MIM# 250950 to 3-methylglutaconic aciduria, type I, MIM# 250950
Genetic Epilepsy v0.652 UBA5 Zornitza Stark Publications for gene: UBA5 were set to 28965491; 27545674; 27545681
Gastrointestinal neuromuscular disease v0.2 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Dystonia and Chorea v0.60 MECR Zornitza Stark Marked gene: MECR as ready
Dystonia and Chorea v0.60 MECR Zornitza Stark Gene: mecr has been classified as Green List (High Evidence).
Dystonia and Chorea v0.60 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, MIM#617282
Dystonia and Chorea v0.59 MECR Zornitza Stark Classified gene: MECR as Green List (high evidence)
Dystonia and Chorea v0.59 MECR Zornitza Stark Gene: mecr has been classified as Green List (High Evidence).
Optic Atrophy v0.55 AUH Zornitza Stark Phenotypes for gene: AUH were changed from to 3-methylglutaconic aciduria, type I, MIM# 250950
Genetic Epilepsy v0.651 UBA5 Zornitza Stark Publications for gene: UBA5 were set to
Genetic Epilepsy v0.650 UBA5 Zornitza Stark Mode of inheritance for gene: UBA5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.649 UBA5 Zornitza Stark reviewed gene: UBA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 28965491, 27545674, 27545681; Phenotypes: Epileptic encephalopathy, early infantile, 44 (MIM#617132); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.54 UBA5 Zornitza Stark Marked gene: UBA5 as ready
Optic Atrophy v0.54 UBA5 Zornitza Stark Gene: uba5 has been classified as Red List (Low Evidence).
Optic Atrophy v0.54 UBA5 Zornitza Stark Phenotypes for gene: UBA5 were changed from to Epileptic encephalopathy, early infantile, 44 (MIM#617132)
Optic Atrophy v0.53 UBA5 Zornitza Stark Publications for gene: UBA5 were set to
Optic Atrophy v0.52 UBA5 Zornitza Stark Mode of inheritance for gene: UBA5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.51 UBA5 Zornitza Stark Classified gene: UBA5 as Red List (low evidence)
Optic Atrophy v0.51 UBA5 Zornitza Stark Gene: uba5 has been classified as Red List (Low Evidence).
Optic Atrophy v0.50 NBAS Zornitza Stark Marked gene: NBAS as ready
Optic Atrophy v0.50 NBAS Zornitza Stark Added comment: Comment when marking as ready: Also note individuals in DECIPHER with eye phenotypes and bi-allelic variants but unpublished and also unclear if optic atrophy. Borderline Green/Amber for optic atrophy.