GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: ANKH

ANKH (ANKH inorganic pyrophosphate transport regulator)
EnsemblGeneIds (GRCh38): ENSG00000154122
EnsemblGeneIds (GRCh37): ENSG00000154122
OMIM: 605145, Gene2Phenotype
ANKH is in 7 panels

1 review

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, 11:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Chondrocalcinosis 2 118600; Craniometaphyseal dysplasia 123000

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
NHS GMS

Phenotypes

Chondrocalcinosis 2 118600
Craniometaphyseal dysplasia 123000

OMIM

605145

Clinvar variants

Variants in ANKH

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: ANKH was added gene: ANKH was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ANKH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ANKH were set to Chondrocalcinosis 2 118600; Craniometaphyseal dysplasia 123000

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: ANKH