Renal ciliopathies
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, 3:30 p.m. | Last Modified: 10 Feb 2023, 3:30 p.m.
Panel Version: 2.6
Comment 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, 3:30 p.m. | Last Modified: 10 Feb 2023, 3:30 p.m.
Panel Version: 2.5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
615382
Publications
Phenotypes for gene: ANKS6 were changed from Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel; Nephronophthisis 16, OMIM:615382 to Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel; Nephronophthisis 16, OMIM:615382
Phenotypes for gene: ANKS6 were changed from Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel; Nephronophthisis 16, OMIM:615382 to Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel; Nephronophthisis 16, OMIM:615382
Phenotypes for gene: ANKS6 were changed from Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel; Nephronophthisis 16, OMIM:615382 to Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel; Nephronophthisis 16, OMIM:615382
Phenotypes for gene: ANKS6 were changed from Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel; Nephronophthisis 16, 615382; Nephronophthisis to Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel; Nephronophthisis 16, OMIM:615382
Publications for gene: ANKS6 were set to 34740236
Publications for gene: ANKS6 were set to 34740236
Publications for gene: ANKS6 were set to
gene: ANKS6 was added gene: ANKS6 was added to Renal ciliopathies. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green,Orphanet Mode of inheritance for gene: ANKS6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ANKS6 were set to Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel; Nephronophthisis 16, 615382; Nephronophthisis