Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

Gene: RS1

Red List (low evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Variable visual impairment, later onset.
Created: 26 Aug 2022, 6:14 a.m. | Last Modified: 26 Aug 2022, 6:14 a.m.
Panel Version: 0.157

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

Phenotypes
Retinoschisis (MIM#312700)

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

- This gene is known to be associated with X-linked recessive disease, however, some affected females have been reported (OMIM).
- May not clinically manifest until middle life (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).
Sources: Literature
Created: 26 Jul 2022, 2:56 a.m.

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 Red
Phenotypes
  • Retinoschisis (MIM#312700)
OMIM
300839
Clinvar variants
Variants in RS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Sep 2022, Gel status: 1

Removed Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review was removed from gene: RS1.

26 Aug 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rs1 has been classified as Red List (Low Evidence).

26 Aug 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rs1 has been classified as Red List (Low Evidence).

28 Jul 2022, Gel status: 0

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: RS1.

26 Jul 2022, Gel status: 0

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

Crystle Lee (Victorian Clinical Genetics Services)

gene: RS1 was added gene: RS1 was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: RS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: RS1 were set to 15932525; 23453514; 23847049 Phenotypes for gene: RS1 were set to Retinoschisis (MIM#312700) Review for gene: RS1 was set to AMBER