Congenital muscular dystrophy
Gene: ANO5Comment on list classification: Demoted to red due to expert reviewer comments.Created: 19 Dec 2016, 12:43 p.m.
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
Source was removed from ANO5.
Phenotypes for gene: ANO5 were changed from Gnathodiaphyseal dysplasia, 166260; Muscular dystrophy, limb-girdle, type 2L, 611307Miyoshi muscular dystrophy 3, 613319; Limb-Girdle Muscular Dystrophy, Recessive to Miyoshi muscular dystrophy 3, OMIM:613319; Muscular dystrophy, limb-girdle, autosomal recessive 12, OMIM:611307
27.01.2017 Panel revised after expert review and internal review with further curation.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
ANO5 was added to Congenital muscular dystrophypanel. Source:
Model of inheritance for gene ANO5 was changed to BIALLELIC, autosomal or pseudoautosomal
ANO5 was added to Congenital muscular dystrophypanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
ANO5 was added to Congenital muscular dystrophypanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services