Likely inborn error of metabolism - targeted testing not possible
Gene: ATXN7Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 5 Nov 2021, 4:40 p.m. | Last Modified: 5 Nov 2021, 4:40 p.m.
Panel Version: 2.191
Associated with phenotype in OMIM, not in G2P. At least 18 patients from 5 families with highly unstable CAG repeat expansionCreated: 23 Feb 2017, 5:12 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 7 164500
Publications
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)
Mode of inheritance for gene: ATXN7 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
Tag nucleotide-repeat-expansion tag was added to gene: ATXN7. Tag currently-ngs-unreportable tag was added to gene: ATXN7.
Source NHS GMS was added to ATXN7. Source London North GLH was added to ATXN7.
Sarah Leigh: Associated with phenotype in O
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))