Cystic kidney disease
Gene: ANKS6Comment on publications: Additional cases (two affected siblings identified with biallelic ANKS6 variants and reported with late-onset chronic kidney disease) and functional studies in PMID:34740236.Created: 10 Feb 2023, 3:28 p.m. | Last Modified: 10 Feb 2023, 3:28 p.m.
Panel Version: 3.7
Comment on list classification: Sufficient evidence that this causes nephronophthisis/progressive cystic renal disease.Created: 10 May 2016, 9:59 a.m.
No current test experience but this gene is on the list for an extended panel.Created: 22 Oct 2015, 10:22 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANKS6 were set to
Phenotypes for gene: ANKS6 were changed from Ciliopathy genes associated with cystic kidney disease; Nephronophthisis 16, OMIM:615382 to Ciliopathy genes associated with cystic kidney disease; Nephronophthisis 16, OMIM:615382
Phenotypes for gene: ANKS6 were changed from Ciliopathy genes associated with cystic kidney disease to Ciliopathy genes associated with cystic kidney disease; Nephronophthisis 16, OMIM:615382
This gene has been classified as Green List (High Evidence).
Mode of inheritance for ANKS6 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
ANKS6 was added to Cystic kidney diseasepanel. Sources: Expert