Distal myopathies
Gene: ANO5
ANO5 (anoctamin 5)
EnsemblGeneIds (GRCh38): ENSG00000171714
EnsemblGeneIds (GRCh37): ENSG00000171714
OMIM: 608662, Gene2Phenotype
ANO5 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000171714
EnsemblGeneIds (GRCh37): ENSG00000171714
OMIM: 608662, Gene2Phenotype
ANO5 is in 11 panels
1 review
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Mutations in this gene clearly can cause a relevant phenotyopeCreated: 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