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Inborn errors of metabolism

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 15 panels

2 reviews

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

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes optic atrophy spectrum disorder for gene: SLC25A46 Publications for gene SLC25A46 were changed from PMID: 26168012 to 26168012

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: SLC25A46 was added gene: SLC25A46 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A46 were set to PMID: 26168012 Phenotypes for gene: SLC25A46 were set to optic atrophy spectrum disorder