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  3. ANKS6
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Unexplained kidney failure in young people

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

1 review

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: 0.163

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert
Phenotypes
  • Nephronophthisis 16 615382
OMIM
615370
Clinvar variants
Variants in ANKS6
Penetrance
Complete
Panels with this gene

History Filter Activity

17 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 17th August 2016

4 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 Aug 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for ANKS6 were set to Nephronophthisis 16 615382

4 Aug 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

ANKS6 was added to Unexplained kidney failure in young peoplepanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN

20 Jun 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for ANKS6 were set to Ciliopathy genes associated with cystic kidney disease; Nephronophthisis 16 615382

16 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

ANKS6 was created by sleigh

16 May 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

ANKS6 was added to Unexplained kidney failure in young peoplepanel. Sources: Expert,Expert Review Green