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  2. Cystic kidney disease
  3. CYS1
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Cystic kidney disease

Gene: CYS1

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). Not yet associated with any phenotype in OMIM or G2P. One family with biallelic pathogenic variants and having severe childhood polycystic kidney disease and congenital hepatic fibrosis (PMID: 34521872). Cystin (product of CYS1) is expressed in primary apical cilia of renal ductal epithelial cells and the knockout mouse model phenocopies human polycystic kidney disease, providing strong support for this association (PMID: 11854326)

Overall sufficient evidence for amber rating, but additional cases required before promotion to green (added watchlist tag).
Created: 14 Nov 2024, 12:51 p.m. | Last Modified: 14 Nov 2024, 12:51 p.m.
Panel Version: 3.15
Created: 14 Nov 2024, 12:51 p.m.
Last Modified: 14 Nov 2024, 12:51 p.m.
Copied from panel: Renal ciliopathies v3.15

Zornitza Stark (Australian Genomics)

I don't know

Single family reported. However, extensive experimental data, including mouse model.
Sources: Literature
Created: 3 Feb 2022, 11:35 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polycystic kidney disease, MONDO:0020642

Publications

Created: 3 Feb 2022, 11:35 p.m.

Copied from panel: Renal ciliopathies v3.15

Details

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

History Filter Activity

14 Nov 2024, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: CYS1 was added gene: CYS1 was added to Cystic kidney disease. Sources: Expert Review Amber,Literature watchlist tags were added to gene: CYS1. 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