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Skeletal dysplasia

Gene: ANKH

Green List (high evidence)

ANKH (ANKH inorganic pyrophosphate transport regulator)
EnsemblGeneIds (GRCh38): ENSG00000154122
EnsemblGeneIds (GRCh37): ENSG00000154122
OMIM: 605145, Gene2Phenotype
ANKH is in 5 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

In Other sclerosing bone disorders gp of SD, and Abnormal mineralization gp of SD. >3 cases reported.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Chondrocalcinosis 2 118600; Craniometaphyseal dysplasia 123000

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: ANKH; Initial rating suggestion: green if SD
Created: 6 Mar 2019, 11:36 a.m.

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve Abbs
Created: 27 Jul 2016, 9:27 a.m.
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.
Created: 7 Jul 2016, 10:36 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)
Created: 21 Jun 2016, 12:27 p.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 17 Jun 2016, 8:01 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Chondrocalcinosis 2 118600; Craniometaphyseal dysplasia 123000

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Chondrocalcinosis 2 118600
  • Craniometaphyseal dysplasia 123000
OMIM
605145
Clinvar variants
Variants in ANKH
Penetrance
Complete
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Chondrocalcinosis 2 118600; Craniometaphyseal dysplasia 123000 for gene: ANKH

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to ANKH. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

7 Jul 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for ANKH was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

7 Jul 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).

7 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for ANKH were set to Chondrocalcinosis 2 118600; Craniometaphyseal dysplasia 123000

7 Jul 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

ANKH was added to Unexplained skeletal dysplasiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

21 Jun 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).

18 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

ANKH was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory ANKH was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Red

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

ANKH was added to Unexplained skeletal dysplasiapanel. Sources:

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

ANKH was created by sleigh