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Inborn errors of metabolism

Gene: ATXN7

Red List (low evidence)

ATXN7 (ataxin 7)
EnsemblGeneIds (GRCh38): ENSG00000163635
EnsemblGeneIds (GRCh37): ENSG00000163635
OMIM: 607640, Gene2Phenotype
ATXN7 is in 13 panels

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

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

Phenotypes
Spinocerebellar ataxia 7 164500

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Spinocerebellar ataxia 7 164500
  • Spinocerebellar ataxia-7 (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
OMIM
607640
Clinvar variants
Variants in ATXN7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ATXN7. Source London North GLH was added to ATXN7.

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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))