Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: ANO5
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
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
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
Gene: ano5 has been classified as Green List (High Evidence).
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
Publications for gene: ANO5 were set to
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