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  2. Renal and urinary tract disorders
  3. ANKS6
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Renal and urinary tract disorders

Gene: ANKS6

Green List (high evidence)
ANKS6 (ankyrin repeat and sterile alpha motif domain containing 6)
EnsemblGeneIds (GRCh38): ENSG00000165138
EnsemblGeneIds (GRCh37): ENSG00000165138
OMIM: 615370, Gene2Phenotype
ANKS6 is in 8 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least five variants reported
Created: 4 Aug 2016, 10:19 a.m.
Created: 4 Aug 2016, 10:19 a.m.

Panel version: Imported from End-stage renal disease - childhood onset panel version 0.163

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.
Created: 10 May 2016, 9:59 a.m.

Panel version: Imported from Cystic kidney disease panel version 0.7

Miranda Durkie (Genetics)

Green List (high evidence)

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

Created: 22 Oct 2015, 10:22 a.m.

Panel version: Imported from Cystic kidney disease panel version 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Nephronophthisis 16 615382
OMIM
615370
Clinvar variants
Variants in ANKS6
Penetrance
None
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Miranda Durkie: No current test experience but

30 Jan 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: ANKS6 were changed from Ciliopathy genes associated with cystic kidney disease; Nephronophthisis 16 to Ciliopathy genes associated with cystic kidney disease; Nephronophthisis 16 615382

20 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Nephronophthisis 16 for gene: ANKS6

20 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: ANKS6 was added gene: ANKS6 was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: ANKS6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ANKS6 were set to Ciliopathy genes associated with cystic kidney disease