Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: ANO5EnsemblGeneIds (GRCh38): ENSG00000171714
EnsemblGeneIds (GRCh37): ENSG00000171714
OMIM: 608662, Gene2Phenotype
ANO5 is in 9 panels
3 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
PMID: 20096397 - 5 families (12 patients) with either proximal limb girdle muscular dystrophy (3/5) or distal miyoshi myopathy (2/5). No obvious genotype-phenotype correlation, homozygous PTCs reported to cause both conditions. Age of onset >30 years old.
PMID: 32399949 - 3 patients with biallelic variants. All are carriers of the common c.191dupA variant with a missense in trans. 1/3 has limb girdle muscular dystrophy, all patients have onset >30 years oldCreated: 24 Jun 2020, 12:11 a.m. | Last Modified: 24 Jun 2020, 12:11 a.m.
Panel Version: 0.7
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 12 611307
Publications
Bryony Thompson (Royal Melbourne Hospital)
Loss of function is the mechanism of disease for muscular dystrophy and gain of function is the mechanism of disease for skeletal dysplasia.Created: 28 May 2020, 4:19 a.m. | Last Modified: 28 May 2020, 4:19 a.m.
Panel Version: 0.2918
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Gnathodiaphyseal dysplasia MIM#166260; Miyoshi muscular dystrophy 3 MIM#613319; Muscular dystrophy, limb-girdle, autosomal recessive 12 MIM#611307
Publications
Teresa Zhao (Victorian Clinical Genetics Services)
Conditions can be progressive with variable expressivity
Disease mechanism (PTC variants): LoF
Disease mechanism (missense variants): Unclear. Miss variants identified in GDD patients were expressed less than WT in transfected HEK293 cells (PMID: 28176803), however PMID: 32112655 suggested GoF for GDD-related missense while LoF for muscle phenotype-related missense. Dom-neg hypothesised by PMID: 23047743.
hotspot in exon 5 and 20 (PMID: 25891276 - An LGMD and myopathy study). Missense at p.Cys356 is a hotspot for GDD (PMID: 30554457).Created: 15 May 2020, 1:36 a.m. | Last Modified: 15 May 2020, 1:36 a.m.
Panel Version: 0.28
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Gnathodiaphyseal dysplasia, MIM 166260; Miyoshi muscular dystrophy 3, MIM 613319; Muscular dystrophy, limb-girdle, AR 12, MIM 611307
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Muscular dystrophy, limb-girdle, type 2L, 611307
- Miyoshi muscular dystrophy 3, 613319
- OMIM
- 608662
- Clinvar variants
- Variants in ANO5
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ano5 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ANO5 were changed from Gnathodiaphyseal dysplasia, 166260; Muscular dystrophy, limb-girdle, type 2L, 611307; Miyoshi muscular dystrophy 3, 613319 to Muscular dystrophy, limb-girdle, type 2L, 611307; Miyoshi muscular dystrophy 3, 613319
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ANO5 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ANO5 was added gene: ANO5 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ANO5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ANO5 were set to Gnathodiaphyseal dysplasia, 166260; Muscular dystrophy, limb-girdle, type 2L, 611307; Miyoshi muscular dystrophy 3, 613319