Cystic kidney disease
Gene: ANKS6EnsemblGeneIds (GRCh38): ENSG00000165138
EnsemblGeneIds (GRCh37): ENSG00000165138
OMIM: 615370, Gene2Phenotype
ANKS6 is in 8 panels
3 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
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, 3:28 p.m. | Last Modified: 10 Feb 2023, 3:28 p.m.
Panel Version: 3.7
Ellen Thomas (Genomics England Curator)
Comment on list classification: Sufficient evidence that this causes nephronophthisis/progressive cystic renal disease.Created: 10 May 2016, 9:59 a.m.
Miranda Durkie (Genetics)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert
- Phenotypes
-
- Ciliopathy genes associated with cystic kidney disease
- Nephronophthisis 16, OMIM:615382
- OMIM
- 615370
- Clinvar variants
- Variants in ANKS6
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: ANKS6 were set to
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)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
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)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
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for ANKS6 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)ANKS6 was added to Cystic kidney diseasepanel. Sources: Expert