Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: ANO5
Phenotypes
Limb-girdle muscular dystrophy 2L
Variants in this GENE are reported as part of current diagnostic practice
Listed as associated with Limb Girdle Muscular Dystrophy by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 8:20 a.m.
Source NHS GMS was added to ANO5.
Source Yorkshire and North East GLH was added to ANO5. Rating Changed from Green List (high evidence) to Green List (high evidence)
Phenotypes for gene: ANO5 were changed from Gnathodiaphyseal dysplasia, 166260Muscular dystrophy, limb-girdle, type 2L, 611307Miyoshi muscular dystrophy 3, 613319; Limb-girdle muscular dystrophy; Limb-Girdle Muscular Dystrophy, Recessive; Limb-girdle muscular dystrophy to Gnathodiaphyseal dysplasia, 166260; Muscular dystrophy, limb-girdle, type 2L, 611307; Miyoshi muscular dystrophy 3, 613319; Limb-girdle muscular dystrophy; Limb-Girdle Muscular Dystrophy, Recessive; Limb-girdle muscular dystrophy
Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.
Publications for ANO5 were set to 20096397
This gene has been classified as Green List (High Evidence).
Publications for ANO5 were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/
ANO5 was added to Limb girdle muscular dystrophypanel. Sources: Eligibility statement prior genetic testing
Model of inheritance for gene ANO5 was changed to BIALLELIC, autosomal or pseudoautosomal
ANO5 was added to Limb girdle muscular dystrophypanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene ANO5 was changed to BIALLELIC, autosomal or pseudoautosomal
ANO5 was added to Limb girdle muscular dystrophypanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
ANO5 was added to Limb girdle muscular dystrophypanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services