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| Ataxia and cerebellar anomalies - narrow panel v4.43 | THG1L | Achchuthan Shanmugasundram Classified gene: THG1L as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v4.43 | THG1L | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v4.43 | THG1L | Achchuthan Shanmugasundram Gene: thg1l has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v4.42 | THG1L | Achchuthan Shanmugasundram Phenotypes for gene: THG1L were changed from Spinocerebellar ataxia, autosomal recessive 28, OMIM:618800; Spinocerebellar ataxia, autosomal recessive 28, MONDO:0032923 to Spinocerebellar ataxia, autosomal recessive 28, OMIM:618800, MONDO:0032923 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v4.41 | THG1L | Achchuthan Shanmugasundram Publications for gene: THG1L were set to 27307223; 30214071; 31168944 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v4.40 | THG1L |
Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: THG1L. Tag Q4_23_NHS_review tag was added to gene: THG1L. |
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| Ataxia and cerebellar anomalies - narrow panel v4.40 | THG1L | Achchuthan Shanmugasundram reviewed gene: THG1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 27307223, 30214071, 31168944, 33682303, 37670026; Phenotypes: Spinocerebellar ataxia, autosomal recessive 28, OMIM:618800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v4.40 | THG1L | Hannah Knight reviewed gene: THG1L: Rating: AMBER; Mode of pathogenicity: None; Publications: 33682303, 33682303; Phenotypes: Spinocerebellar ataxia, autosomal recessive 28; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.51 | THG1L | Arina Puzriakova Tag watchlist tag was added to gene: THG1L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.51 | THG1L | Arina Puzriakova Phenotypes for gene: THG1L were changed from Cerebellar ataxia to Spinocerebellar ataxia, autosomal recessive 28, OMIM:618800; Spinocerebellar ataxia, autosomal recessive 28, MONDO:0032923 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.50 | THG1L | Arina Puzriakova Classified gene: THG1L as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.50 | THG1L | Arina Puzriakova Added comment: Comment on list classification: Ataxia only reported in 3 Ashkenazi Jewish families with the same p.V55A founder variant. Unclear whether the fourth case with a different variant (p.L294P) displayed ataxia. Therefore, additional cases or functional analysis of the p.V55A variant are required prior to upgrading this gene to Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.50 | THG1L | Arina Puzriakova Gene: thg1l has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.49 | THG1L | Arina Puzriakova reviewed gene: THG1L: Rating: AMBER; Mode of pathogenicity: None; Publications: 27307223, 31168944, 30214071; Phenotypes: Spinocerebellar ataxia, autosomal recessive 28, OMIM:618800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.6 | THG1L |
Zornitza Stark gene: THG1L was added gene: THG1L was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature Mode of inheritance for gene: THG1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: THG1L were set to 27307223; 30214071; 31168944 Phenotypes for gene: THG1L were set to Cerebellar ataxia Review for gene: THG1L was set to GREEN Added comment: Four Ashkenazi Jewish families reported, with same homozygous variant, p.V55A in affected individuals. Another individual from different ethnicity also reported. A carrier rate of 0.8%, but no THG1L V55A homozygotes, was found in a cohort of 3,232 unrelated Ashkenazi Jewish individuals, and no homozygotes found in Exac or gnomAD. Sources: Literature |
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