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| Likely inborn error of metabolism - targeted testing not possible v2.192 | ATXN7 | Arina Puzriakova Phenotypes for gene: ATXN7 were changed from Spinocerebellar ataxia 7 164500; Spinocerebellar ataxia-7 (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) to Spinocerebellar ataxia 7, OMIM:164500; Mitochondrial respiratory chain disorders (caused by nuclear variants only) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.191 | ATXN7 | Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.191 | ATXN7 | Arina Puzriakova Mode of inheritance for gene: ATXN7 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.190 | ATXN7 |
Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: ATXN7. Tag currently-ngs-unreportable tag was added to gene: ATXN7. |
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| Likely inborn error of metabolism - targeted testing not possible v1.47 | ATXN7 |
Ivone Leong Source NHS GMS was added to ATXN7. Source London North GLH was added to ATXN7. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | ATXN7 |
Ellen McDonagh gene: ATXN7 was added gene: ATXN7 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: ATXN7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATXN7 were set to 27604308 Phenotypes for gene: ATXN7 were set to Spinocerebellar ataxia 7 164500; Spinocerebellar ataxia-7 (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) |
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