Distal myopathies

Gene: ANO5

Green List (high evidence)

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

1 review

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Mutations in this gene clearly can cause a relevant phenotyope
Created: 20 Feb 2017, 12:03 p.m.
Also allelic to limb-girdle muscular dystrophy type 2L. the phenotypic spectrum of ANO5 mutations ranges from asymptomatic hyperCKemia to proximal and/or distal muscle weakness.
Females are usually less severely affected than males.
Created: 20 Feb 2017, noon

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Miyoshi muscular dystrophy 3, 613319

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Miyoshi muscular dystrophy 3, 613319
OMIM
608662
Clinvar variants
Variants in ANO5
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 22nd of February 2017, after revising with the curation team and the expert from UCL Dr Bugiardini.

20 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

31 Jan 2017, Gel status: 0

Added New Source

Arianna Tucci (Genomics England Curator)

ANO5 was added to Distal myopathiespanel. Sources: Expert Review

31 Jan 2017, Gel status: 0

Created

Arianna Tucci (Genomics England Curator)

ANO5 was created by arianna