Comment 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
Gnathodiaphyseal dysplasia, 166260; Muscular dystrophy, limb-girdle, type 2L, 611307Miyoshi muscular dystrophy 3, 613319; Limb-Girdle Muscular Dystrophy, Recessive
16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
This gene has been classified as Red List (Low Evidence).
ANO5 was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen ANO5 was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services ANO5 was added to Arthrogryposispanel. Source: ANO5 was added to Arthrogryposispanel. Source: Expert Review Red Model of inheritance for gene ANO5 was set to BIALLELIC, autosomal or pseudoautosomal
ANO5 was added to Arthrogryposispanel. Sources: Expert list
ANO5 was created by ellenmcdonagh