Undiagnosed metabolic disordersGene: ATXN7
Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Created: 5 Nov 2021, 4:39 p.m. | Last Modified: 5 Nov 2021, 4:39 p.m.
Panel Version: 1.489
Associated with phenotype in OMIM, not in G2P. At least 18 patients from 5 families with highly unstable CAG repeat expansion
Created: 23 Feb 2017, 5:12 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Spinocerebellar ataxia 7 164500
Phenotypes for gene: ATXN7 were changed from Spinocerebellar ataxia-7 (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Spinocerebellar ataxia 7 164500 to Spinocerebellar ataxia 7, OMIM:164500
Mode of inheritance for gene: ATXN7 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added
ATXN7 was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Red Model of inheritance for gene ATXN7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
ATXN7 was added to Undiagnosed metabolic disorderspanel. Sources: Literature
ATXN7 was created by sleigh