Optic Atrophy
Gene: SLC24A1

SLC24A1 (solute carrier family 24 member 1)
EnsemblGeneIds (GRCh38): ENSG00000074621
EnsemblGeneIds (GRCh37): ENSG00000074621
OMIM: 603617, Gene2Phenotype
SLC24A1 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Agree, I can only find association with retinal disease, not optic atrophy.
Created: 14 Apr 2020, 6:01 a.m. | Last Modified: 14 Apr 2020, 6:01 a.m.

Panel Version: 0.60

Created: 14 Apr 2020, 6:01 a.m.
Last Modified: 14 Apr 2020, 6:01 a.m.
Panel version: 0.60

Belinda Chong (Victorian Clinical Genetics Services)

I don't know

No mention of Optic Atrophy (OA) only congenital stationary night blindness (CSNB)

ClinVar and publications: Missesne and LOF all CSNB except for one LOF RP case.
First association of the SLC24A1 gene with retinitis pigmentosa (RP). PMID: 27624628 however, only two affected in one pedigree.
Created: 14 Apr 2020, 4:22 a.m. | Last Modified: 14 Apr 2020, 4:22 a.m.

Panel Version: 0.56

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Night blindness, congenital stationary (complete), 1D, autosomal recessive; 613830

Publications

Created: 14 Apr 2020, 4:22 a.m.
Last Modified: 14 Apr 2020, 4:22 a.m.
Panel version: 0.56

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Night blindness, congenital stationary (complete), 1D, autosomal recessive
613830

OMIM

603617

Clinvar variants

Variants in SLC24A1

Penetrance

None

Publications

Panels with this gene