Optic Atrophy
Gene: SLC25A46

SLC25A46 (solute carrier family 25 member 46)
EnsemblGeneIds (GRCh38): ENSG00000164209
EnsemblGeneIds (GRCh37): ENSG00000164209
OMIM: 610826, Gene2Phenotype
SLC25A46 is in 9 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

New disease entity added by OMM to reflect the more severe end of the spectrum.
Created: 9 May 2021, 11:21 p.m. | Last Modified: 9 May 2021, 11:21 p.m.

Panel Version: 0.131

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 1E, MIM# 619303

Created: 9 May 2021, 11:21 p.m.
Last Modified: 9 May 2021, 11:21 p.m.
Panel version: 0.131

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Mutiple families reported with biallelic variants in this gene. Optic atrophy consistently observed

PMID: 26168012: 4 families with biallelic variants reported with optic atrophy spectrum disorder
PMID: 28376086: Mouse model showed similar features including optic atrophy
Created: 9 Apr 2020, 4:12 a.m. | Last Modified: 9 Apr 2020, 4:12 a.m.

Panel Version: 0.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neuropathy, hereditary motor and sensory, type VIB (MIM#616505)

Publications

PMID: 26168012
PMID: 28376086

Created: 9 Apr 2020, 4:12 a.m.
Last Modified: 9 Apr 2020, 4:12 a.m.
Panel version: 0.11

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Neuropathy, hereditary motor and sensory, type VIB (MIM#616505)
Pontocerebellar hypoplasia, type 1E, MIM# 619303

OMIM

610826

Clinvar variants

Variants in SLC25A46

Penetrance

None

Publications

Panels with this gene