Structural eye disease
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

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.48

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Red

Phenotypes

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

OMIM

603617

Clinvar variants

Variants in SLC24A1

Penetrance

None

Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SLC24A1. Mode of inheritance for gene SLC24A1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830 for gene: SLC24A1

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: SLC24A1 was added gene: SLC24A1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: SLC24A1 was set to Phenotypes for gene: SLC24A1 were set to Eye Disorders

Structural eye disease Gene: SLC24A1