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| Ataxia - adult onset v1.45 | THAP11_SCA51_CAG |
Bryony Thompson STR: THAP11_SCA51_CAG was added STR: THAP11_SCA51_CAG was added to Ataxia - adult onset. Sources: Literature Mode of inheritance for STR: THAP11_SCA51_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: THAP11_SCA51_CAG were set to 15368101; 24677642; 34165550; 38113319 Phenotypes for STR: THAP11_SCA51_CAG were set to Spinocerebellar ataxia 51, MIM# 620947 Review for STR: THAP11_SCA51_CAG was set to AMBER Added comment: 7 individuals from 2 Chinese families with SCA (1 was pre-ataxic) and a THAP11 CAG (polyQ) expansion. 45 repeats was the lowest number of repeats in an affected individual. A 46/29 CAG THAP11 genotype has also been identified in an individual with ataxia of European ancestry, that also had a CACNA1A pathogenic expansion which causes SCA6. Analysis of the 1000 genomes cohort (n=2504), suggests a normal range between 19-39. Also, a supporting mouse model and functional assays support a toxic aggregation mechanism of disease. Further probands/families are required to confirm the gene-disease association. Sources: Literature |
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| Ataxia - adult onset v1.35 | CACNA1A_SCA6_CAG | Bryony Thompson Marked STR: CACNA1A_SCA6_CAG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v1.35 | CACNA1A_SCA6_CAG | Bryony Thompson Str: cacna1a_sca6_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v1.35 | CACNA1A_SCA6_CAG | Bryony Thompson SCA6 was changed to CACNA1A_SCA6_CAG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.53 | CACNA1A | Bryony Thompson Tag STR tag was added to gene: CACNA1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.53 | CACNA1A | Bryony Thompson Classified gene: CACNA1A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.53 | CACNA1A | Bryony Thompson Added comment: Comment on list classification: Ataxia can be caused by a triplet repeat expansion in this gene, which is not detectable with current WES/WGS technologies. However, SNVs have also been reported as disease-causing. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.53 | CACNA1A | Bryony Thompson Gene: cacna1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.0 | CACNA1A |
Bryony Thompson gene: CACNA1A was added gene: CACNA1A was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CACNA1A were set to Spinocerebellar ataxia 6; familial hemiplegic migraine type 1, 141500; Familial hemiplegic migraine 1, 141500; SCA6, 183086; episodic ataxia type 2 (EA2),108500; Episodic ataxia type 2, 108500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia; Episodic ataxia, type 2 |
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