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| Ataxia and cerebellar anomalies - narrow panel v3.38 | MTCL1 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: MTCL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.30 | MTCL1 | Eleanor Williams Tag Q2_21_rating was removed from gene: MTCL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.30 | MTCL1 | Eleanor Williams reviewed gene: MTCL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.29 | MTCL1 |
Eleanor Williams Source Expert Review Green was added to MTCL1. Source NHS GMS was added to MTCL1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Ataxia and cerebellar anomalies - narrow panel v2.175 | MTCL1 | Arina Puzriakova Classified gene: MTCL1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.175 | MTCL1 | Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. There is sufficient evidence to promote this gene to Green at the next GMS panel update - two unrelated individuals with different LoF variants in this gene. Ataxia with cerebellar atrophy was the predominant presentation in both cases (PMIDs: 30548255; 32961396). Knockout animal model recapitulates human phenotypes and provides functional support. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.175 | MTCL1 | Arina Puzriakova Gene: mtcl1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.174 | MTCL1 | Arina Puzriakova Tag Q2_21_rating tag was added to gene: MTCL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.174 | MTCL1 | Arina Puzriakova reviewed gene: MTCL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30548255, 32961396; Phenotypes: Cerebellar ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.33 | MTCL1 |
Zornitza Stark gene: MTCL1 was added gene: MTCL1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature Mode of inheritance for gene: MTCL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTCL1 were set to 30548255; 28283581; 32961396 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 GREEN Added comment: Two families reported with bi-allelic LOF variants, early onset ataxia and a supportive null mouse model. Single family with mono-allelic variant in two individuals and adult-onset ataxia (not pertinent to this panel, and less compelling). Sources: Literature |
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