Genes in panel

Hereditary ataxia - adult onset

Gene: SLC25A32

Red List (low evidence)

SLC25A32 (solute carrier family 25 member 32)
EnsemblGeneIds (GRCh38): ENSG00000164933
EnsemblGeneIds (GRCh37): ENSG00000164933
OMIM: 610815, Gene2Phenotype
SLC25A32 is in 5 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Very few individuals reported and as far as I can tell only a single individual reported with an ataxic phenotype (Hellebrekers paper)
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Riboflavin-responsive exericise intolerance, 616839

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Riboflavin-responsive exericise intolerance, 616839
OMIM
610815
Clinvar variants
Variants in SLC25A32
Penetrance
None
Panels with this gene

History Filter Activity

19 Jun 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: SLC25A32 was changed from to BIALLELIC, autosomal or pseudoautosomal

15 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Riboflavin-responsive exericise intolerance, 616839 for gene: SLC25A32

14 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SLC25A32.

14 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SLC25A32 was added gene: SLC25A32 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SLC25A32 was set to