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Mendeliome

Gene: RS1

Green List (high evidence)

RS1 (retinoschisin 1)
EnsemblGeneIds (GRCh38): ENSG00000102104
EnsemblGeneIds (GRCh37): ENSG00000102104
OMIM: 300839, Gene2Phenotype
RS1 is in 5 panels

1 review

Kristin Rigbye (Victorian Clinical Genetics Services)

Green List (high evidence)

- 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: 3 Mar 2020, 12:58 a.m. | Last Modified: 3 Mar 2020, 12:58 a.m.
Panel Version: 0.1590

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Retinoschisis, 312700

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Retinoschisis, MIM#312700
OMIM
300839
Clinvar variants
Variants in RS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rs1 has been classified as Green List (High Evidence).

3 Mar 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RS1 were changed from to Retinoschisis, MIM#312700

3 Mar 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RS1 were set to

3 Mar 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RS1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RS1 was added gene: RS1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RS1 was set to Unknown