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Possible mitochondrial disorder - nuclear genes

Gene: SLC25A46

Green List (high evidence)

SLC25A46 (solute carrier family 25 member 46)
EnsemblGeneIds (GRCh38): ENSG00000164209
EnsemblGeneIds (GRCh37): ENSG00000164209
OMIM: 610826, Gene2Phenotype
SLC25A46 is in 16 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neuropathy, hereditary motor and sensory, type VIB, 616505

Ellen McDonagh (Genomics England Curator)

Comment on list classification: PMID: 26168012 is a report of homozygous/compound heterozygous mutations associated with optic atrophy in four families, with functional assays in zebrafish demonstrating loss of function of the gene effects development and maintence of neurons.
Created: 15 Feb 2016, 5:26 p.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

single mutation report in literature
Created: 7 Feb 2016, 10:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

History Filter Activity

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: SLC25A46 was added gene: SLC25A46 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A46 were set to Neuropathy, hereditary motor and sensory, type VIB, 616505