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Inborn errors of metabolism

Gene: SLC25A32

Green List (high evidence)

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

1 review

Catherine Snow (Genomics England)

Treatable tag was added based on reports in PMID: 26933868 and 28443623, that riboflavin treatment was effective.
Created: 18 Nov 2019, 4 p.m. | Last Modified: 18 Nov 2019, 4 p.m.
Panel Version: 1.406
Green review on relevant panel - Possible mitochondrial disorder - nuclear genes (Version 1.12)
Created: 18 Nov 2019, 4 p.m. | Last Modified: 18 Nov 2019, 4 p.m.
Panel Version: 1.406

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • ?Exercise intolerance, riboflavin-responsive
OMIM
610815
Clinvar variants
Variants in SLC25A32
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Nov 2019, Gel status: 3

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

Catherine Snow (Genomics England)

gene: SLC25A32 was added gene: SLC25A32 was added to Inborn errors of metabolism. Sources: Expert Review Green,Expert list Mode of inheritance for gene: SLC25A32 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A32 were set to 26933868; 28443623 Phenotypes for gene: SLC25A32 were set to ?Exercise intolerance, riboflavin-responsive