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BabyScreen+ newborn screening

Gene: RS1

Red List (low evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Well established gene-disease association.

Variable age of onset, mainly in adulthood.

No specific treatment.
Created: 13 Dec 2022, 10:28 p.m. | Last Modified: 13 Dec 2022, 10:28 p.m.
Panel Version: 0.1377

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

Phenotypes
Retinoschisis, MIM#312700

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Retinoschisis, MIM#312700
OMIM
300839
Clinvar variants
Variants in RS1
Penetrance
None
Panels with this gene

History Filter Activity

13 Dec 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).

13 Dec 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 Dec 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).

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RS1 was added gene: RS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RS1 were set to Retinoschisis, X linked