| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia - adult onset v0.118 | ATXN10 | Bryony Thompson Classified gene: ATXN10 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.118 | ATXN10 | Bryony Thompson Gene: atxn10 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.116 | ATXN1 | Bryony Thompson Classified gene: ATXN1 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.116 | ATXN1 | Bryony Thompson Gene: atxn1 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.46 | ATXN10 | Bryony Thompson Marked gene: ATXN10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.46 | ATXN10 | Bryony Thompson Gene: atxn10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.46 | ATXN10 | Bryony Thompson Classified gene: ATXN10 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.46 | ATXN10 | Bryony Thompson Gene: atxn10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.45 | ATXN10 |
Bryony Thompson gene: ATXN10 was added gene: ATXN10 was added to Ataxia - adult onset. Sources: Expert list STR tags were added to gene: ATXN10. Mode of inheritance for gene: ATXN10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATXN10 were set to 11017075; 15127363 Phenotypes for gene: ATXN10 were set to Spinocerebellar ataxia 10 MIM#603516 Mode of pathogenicity for gene: ATXN10 was set to Other Review for gene: ATXN10 was set to GREEN Added comment: Ataxia in 5 Mexican families, caused by an expansion of a pentanucleotide (ATTCT) repeat in intron 9 of the ATXN10 gene. There was an inverse correlation between the expansion size, up to 22.5 kb larger than the normal allele, and the age of onset. Sources: Expert list |
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| Ataxia - adult onset v0.36 | ATXN1 |
Bryony Thompson changed review comment from: From OMIM: The cause of spinocerebellar ataxia-1 is an expansion of a (CAG)n repeat in the gene encoding ataxin-1 located on 6p. Alleles with 36 to 38 triplets were present in individuals with ataxia but without additional characteristic features of SCA1. SCA1 phenotypes were found for patients with 41 and 43 triplets. Sources: Expert list; to: Adult onset ataxia. From OMIM: The cause of spinocerebellar ataxia-1 is an expansion of a (CAG)n repeat in the gene encoding ataxin-1 located on 6p. Alleles with 36 to 38 triplets were present in individuals with ataxia but without additional characteristic features of SCA1. SCA1 phenotypes were found for patients with 41 and 43 triplets. Sources: Expert list |
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| Ataxia - adult onset v0.36 | ATXN1 | Bryony Thompson Marked gene: ATXN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.36 | ATXN1 | Bryony Thompson Gene: atxn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.36 | ATXN1 | Bryony Thompson Classified gene: ATXN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.36 | ATXN1 | Bryony Thompson Added comment: Comment on list classification: Note: the trinucleotide repeat is the only cause of ataxia for this gene, which is not detected by current WES/WGS technologies. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.36 | ATXN1 | Bryony Thompson Gene: atxn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.35 | ATXN1 |
Bryony Thompson gene: ATXN1 was added gene: ATXN1 was added to Ataxia - adult onset. Sources: Expert list STR tags were added to gene: ATXN1. Mode of inheritance for gene: ATXN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATXN1 were set to 8358429; 11973625 Phenotypes for gene: ATXN1 were set to Spinocerebellar ataxia 1 MIM#164400 Mode of pathogenicity for gene: ATXN1 was set to Other Review for gene: ATXN1 was set to GREEN Added comment: From OMIM: The cause of spinocerebellar ataxia-1 is an expansion of a (CAG)n repeat in the gene encoding ataxin-1 located on 6p. Alleles with 36 to 38 triplets were present in individuals with ataxia but without additional characteristic features of SCA1. SCA1 phenotypes were found for patients with 41 and 43 triplets. Sources: Expert list |
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