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Rare multisystem ciliopathy 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

1 review

Richard Scott (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
615382

Publications

Created: 19 Dec 2016, 4:23 p.m.

Panel version: 0.386

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
Phenotypes
  • Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel
  • Nephronophthisis 16, 615382
  • Nephronophthisis
OMIM
615370
Clinvar variants
Variants in ANKS6
Penetrance
Complete
Panels with this gene

History Filter Activity

26 Jan 2017, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January 2017

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

25 Nov 2016, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

ANKS6 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet

25 Nov 2016, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

ANKS6 was added to Rare multisystem ciliopathy disorderspanel. Source: Radboud University Medical Center, Nijmegen

25 Nov 2016, Gel status: 1

Upload gene information

Ellen McDonagh (Genomics England Curator)

ANKS6 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN

25 Nov 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene ANKS6 were set to Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel

5 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ANKS6 was created by ellenmcdonagh

5 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ANKS6 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list