Congenital muscular dystrophy and congenital myopathy
Gene: ANO5EnsemblGeneIds (GRCh38): ENSG00000171714
EnsemblGeneIds (GRCh37): ENSG00000171714
OMIM: 608662, Gene2Phenotype
ANO5 is in 11 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Demoted to red due to expert reviewer comments.Created: 19 Dec 2016, 12:43 p.m.
Emma Clement (Great Ormond Street Hospital)
associated with LGMD phenotype, hyperckaemia. Finnish founder mutation. Also non specific myopathic presentaitons.Created: 19 Dec 2016, 11:47 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Gnathodiaphyseal dysplasia, 166260; Muscular dystrophy, limb-girdle, type 2L, 611307Miyoshi muscular dystrophy 3, 613319; Limb-Girdle Muscular Dystrophy, Recessive
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Miyoshi muscular dystrophy 3, OMIM:613319
- Muscular dystrophy, limb-girdle, autosomal recessive 12, OMIM:611307
- OMIM
- 608662
- Clinvar variants
- Variants in ANO5
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: ANO5 was added gene: ANO5 was added to Congenital muscular dystrophy and congenital myopathy. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert Review Red Mode of inheritance for gene: ANO5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ANO5 were set to Miyoshi muscular dystrophy 3, OMIM:613319; Muscular dystrophy, limb-girdle, autosomal recessive 12, OMIM:611307 Penetrance for gene: ANO5 were set to Complete