1. Panels
  2. Renal Ciliopathies and Nephronophthisis
  3. CYS1
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Renal Ciliopathies and Nephronophthisis

Gene: CYS1

Amber List (moderate evidence)
CYS1 (cystin 1)
EnsemblGeneIds (GRCh38): ENSG00000205795
EnsemblGeneIds (GRCh37): ENSG00000205795
CYS1 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single family reported. However, extensive experimental data, including mouse model.
Sources: Literature
Created: 26 Jan 2022, 10:07 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polycystic kidney disease, MONDO:0020642

Publications

Created: 26 Jan 2022, 10:07 p.m.

Panel version: 1.7

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Polycystic kidney disease, MONDO:0020642
Clinvar variants
Variants in CYS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Jan 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cys1 has been classified as Amber List (Moderate Evidence).

26 Jan 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cys1 has been classified as Amber List (Moderate Evidence).

26 Jan 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CYS1 was added gene: CYS1 was added to Renal Ciliopathies and Nephronophthisis. Sources: Literature Mode of inheritance for gene: CYS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYS1 were set to 34521872 Phenotypes for gene: CYS1 were set to Polycystic kidney disease, MONDO:0020642 Review for gene: CYS1 was set to AMBER