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| Ataxia and cerebellar anomalies - narrow panel v5.3 | DNAJC3 | Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: DNAJC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v5.3 | DNAJC3 | Sarah Leigh reviewed gene: DNAJC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v5.2 | DNAJC3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to DNAJC3. Source NHS GMS was added to DNAJC3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Ataxia and cerebellar anomalies - narrow panel v4.24 | DNAJC3 | Achchuthan Shanmugasundram Classified gene: DNAJC3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v4.24 | DNAJC3 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are five unrelated families identified with biallelic DNAJC3 variants and reported with gait ataxia since childhood/ adolescence. Hence, this gene can be promoted to Green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v4.24 | DNAJC3 | Achchuthan Shanmugasundram Gene: dnajc3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v4.23 | DNAJC3 | Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: DNAJC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v4.23 | DNAJC3 |
Achchuthan Shanmugasundram gene: DNAJC3 was added gene: DNAJC3 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature Mode of inheritance for gene: DNAJC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJC3 were set to 25466870; 28940199; 32738013; 33486469; 34654017 Phenotypes for gene: DNAJC3 were set to Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, OMIM:616192 Review for gene: DNAJC3 was set to GREEN Added comment: PMID:25466870 - Five individuals from two different families were identified with homozygous DNAJC3 variants (family 1: c.580C>T (p.Arg194Ter); family 2: 72kb del (exons 6-12)) and reported with gait ataxia as one of the clinical manifestations. The onset of gait disturbances was during childhood/ adolescence for four of these cases. PMID:28940199 - Cousin of family 1 from PMID:2546687 with the same variant and presented with gait ataxia since 15 years of age. PMID:32738013 - Two unrelated children were identified with homozygous splice site variants (case 1: c.393+2T>G; case 2: c.393+2T>C) in DNAJC3 and were reported with gait ataxia. PMID:33486469 - Two unrelated patients were identified with compound heterozygous (patient 1: p.Met1Val & p.Arg346Ter) or homozygous (patient 2: p.Arg393Ter) variants, of which patient 1 had ataxia. PMID:34654017 - Two siblings (aged 10 and 5 years) identified with homozygous DNAJC3 variant (c.367_1370delAGAA; p.Lys456SerfsTer85) presented with gait ataxia. Sources: Literature |
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