Arthrogryposis
Gene: DYSFComment on list classification: No known association with arthrogryposisCreated: 4 Jan 2017, 12:34 p.m.
has been reported in CMD presentation in 2 separate families (ceyhan-birsoy 2015, paradas ) but typically a LGMD presentation with onset outside infancy.Created: 19 Dec 2016, 11:47 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, limb-girdle, type 2B, 253601Myopathy, distal, with anterior tibial onset, 606768; Miyoshi muscular dystrophy 1, 254130; 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).
This gene has been classified as Red List (Low Evidence).
DYSF was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services DYSF was added to Arthrogryposispanel. Source: Model of inheritance for gene DYSF was set to BIALLELIC, autosomal or pseudoautosomal
DYSF was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen
DYSF was added to Arthrogryposispanel. Sources: Expert list
DYSF was created by ellenmcdonagh