Rhabdomyolysis and metabolic muscle disorders
Gene: ANO5

ANO5 (anoctamin 5)
EnsemblGeneIds (GRCh38): ENSG00000171714
EnsemblGeneIds (GRCh37): ENSG00000171714
OMIM: 608662, Gene2Phenotype
ANO5 is in 11 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotypes in OMIM and a plausible DDG / G2P. At least 6 variants reported in Miyoshi muscular dystrophy 3 613319, Muscular dystrophy, limb-girdle, type 2L 611307
Created: 2 Dec 2016, 10:26 a.m.

Comment on phenotypes: Activating variants associated with Gnathodiaphyseal dysplasia 166260
Created: 2 Dec 2016, 9:59 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Miyoshi muscular dystrophy 3 613319; Muscular dystrophy, limb-girdle, type 2L 611307

Created: 1 Dec 2016, 3:40 p.m.

Panel version: 0.47

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen
Emory Genetics Laboratory
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Miyoshi muscular dystrophy 3 613319
Muscular dystrophy, limb-girdle, type 2L 611307

OMIM

608662

Clinvar variants

Variants in ANO5

Penetrance

Complete

Publications

25929793

Panels with this gene