Macular Dystrophy/Stargardt Disease
Gene: RS1EnsemblGeneIds (GRCh38): ENSG00000102104
EnsemblGeneIds (GRCh37): ENSG00000102104
OMIM: 300839, Gene2Phenotype
RS1 is in 5 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
- This gene is known to be associated with X-linked recessive disease, however, some affected females have been reported (OMIM).
- Many PTCs and missense reported. All result in same XLRS phenotype (although expression can be variable). Also a knockout mouse with similar phenotype.
- PTCs and missense involving cysteines tend to result in a more severe phenotype, whereas other missense can vary widely in severity (PMID: 23847049).Created: 9 Oct 2020, 10:42 a.m. | Last Modified: 9 Oct 2020, 10:42 a.m.
Panel Version: 0.13
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Retinoschisis, MIM#312700
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Retinoschisis, MIM#312700
- Developmental macular and foveal dystrophy (males with foveal schisis)
- OMIM
- 300839
- Clinvar variants
- Variants in RS1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rs1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: RS1 were changed from Developmental macular and foveal dystrophy (males with foveal schisis) to Retinoschisis, MIM#312700; Developmental macular and foveal dystrophy (males with foveal schisis)
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: RS1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: RS1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: RS1 was added gene: RS1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: RS1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: RS1 were set to Developmental macular and foveal dystrophy (males with foveal schisis)