Skeletal dysplasia
Gene: ANKH
In Other sclerosing bone disorders gp of SD, and Abnormal mineralization gp of SD. >3 cases reported.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Chondrocalcinosis 2 118600; Craniometaphyseal dysplasia 123000
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 SDCreated: 6 Mar 2019, 11:36 a.m.
Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve AbbsCreated: 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.
Tier 1Created: 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
Added phenotypes Chondrocalcinosis 2 118600; Craniometaphyseal dysplasia 123000 for gene: ANKH
Source NHS GMS was added to ANKH. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Mode of inheritance for ANKH was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
Phenotypes for ANKH were set to Chondrocalcinosis 2 118600; Craniometaphyseal dysplasia 123000
ANKH was added to Unexplained skeletal dysplasiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
This gene has been classified as Green List (High Evidence).
ANKH was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory ANKH was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Red
ANKH was added to Unexplained skeletal dysplasiapanel. Sources:
ANKH was created by sleigh