Congenital muscular dystrophy
Gene: ANO5

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

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Demoted to red due to expert reviewer comments.
Created: 19 Dec 2016, 12:43 p.m.

Created: 19 Dec 2016, 12:43 p.m.

Panel version: 0.4

Emma Clement (Great Ormond Street Hospital)

Red List (low evidence)

associated with LGMD phenotype, hyperckaemia. Finnish founder mutation. Also non specific myopathic presentaitons.
Created: 19 Dec 2016, 11:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Gnathodiaphyseal dysplasia, 166260; Muscular dystrophy, limb-girdle, type 2L, 611307Miyoshi muscular dystrophy 3, 613319; Limb-Girdle Muscular Dystrophy, Recessive

Created: 19 Dec 2016, 11:47 a.m.

Panel version: 0.0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen

Phenotypes

Miyoshi muscular dystrophy 3, OMIM:613319
Muscular dystrophy, limb-girdle, autosomal recessive 12, OMIM:611307

OMIM

608662

Clinvar variants

Variants in ANO5

Penetrance

Complete

Panels with this gene

History Filter Activity

3 Feb 2023, Gel status: 1

Removed Source

Arina Puzriakova (Genomics England Curator)

Source was removed from ANO5.

3 Feb 2023, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ANO5 were changed from Gnathodiaphyseal dysplasia, 166260; Muscular dystrophy, limb-girdle, type 2L, 611307Miyoshi muscular dystrophy 3, 613319; Limb-Girdle Muscular Dystrophy, Recessive to Miyoshi muscular dystrophy 3, OMIM:613319; Muscular dystrophy, limb-girdle, autosomal recessive 12, OMIM:611307

27 Jan 2017, Gel status: 1