Congenital nystagmus
Gene: SLC24A1
SLC24A1 (solute carrier family 24 member 1)
EnsemblGeneIds (GRCh38): ENSG00000074621
EnsemblGeneIds (GRCh37): ENSG00000074621
OMIM: 603617, Gene2Phenotype
SLC24A1 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000074621
EnsemblGeneIds (GRCh37): ENSG00000074621
OMIM: 603617, Gene2Phenotype
SLC24A1 is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Nystagmus is not a reported feature.Created: 27 Oct 2021, 6:08 a.m. | Last Modified: 27 Oct 2021, 6:08 a.m.
Panel Version: 0.132
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Night blindness, congenital stationary (complete), 1D, autosomal recessive, MIM# 613830
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Royal Melbourne Hospital
- Phenotypes
-
- Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830
- OMIM
- 603617
- Clinvar variants
- Variants in SLC24A1
- Penetrance
- None
- Panels with this gene
History Filter Activity
27 Oct 2021, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc24a1 has been classified as Red List (Low Evidence).
27 Oct 2021, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc24a1 has been classified as Red List (Low Evidence).
6 Oct 2021, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SLC24A1 was added gene: SLC24A1 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SLC24A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC24A1 were set to Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830