Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: ANO5

Green List (high evidence)

ANO5 (anoctamin 5)
EnsemblGeneIds (GRCh38): ENSG00000171714
EnsemblGeneIds (GRCh37): ENSG00000171714
OMIM: 608662, Gene2Phenotype
ANO5 is in 9 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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 old
Created: 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)

Green List (high evidence)

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)

Green List (high evidence)

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

24 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ano5 has been classified as Green List (High Evidence).

24 Jun 2020, Gel status: 3

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

24 Jun 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ANO5 were set to

13 Jan 2020, Gel status: 3

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