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Osteogenesis imperfecta

Gene: ANKH

Red List (low evidence)

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

3 reviews

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

Red List (low evidence)

Raymond Dalgleish (University of Leicester)

Red List (low evidence)

Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

Red List (low evidence)

There is no evidence to support a causal role of this gene in this particular disease
Created: 6 Oct 2015, 11 a.m.

Phenotypes
Craniometaphyseal Dysplasia; Chondrocalcinosis-2

Publications

Details

Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
  • Disproportionate Short Stature
OMIM
605145
Clinvar variants
Variants in ANKH
Penetrance
Complete
Panels with this gene

History Filter Activity

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

Chris Boustred (Genomics England)

This gene has been classified as Red List (Low Evidence).

23 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ANKH was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory