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Osteogenesis imperfecta

Gene: ANO5

Red List (low evidence)

ANO5 (anoctamin 5)
EnsemblGeneIds (GRCh38): ENSG00000171714
EnsemblGeneIds (GRCh37): ENSG00000171714
OMIM: 608662, Gene2Phenotype
ANO5 is in 12 panels

2 reviews

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

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, 11:04 a.m.

Phenotypes
Gnathodiaphyseal Dysplasia

Publications

Details

Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
  • Disproportionate Short Stature
OMIM
608662
Clinvar variants
Variants in ANO5
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)

ANO5 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory