Arthrogryposis
Gene: MUSK
Not recognised on G2P. Reported in 8 individuals from 3 families with congenital myasthenic syndrome (-<1% cases of congenital myasthenia) as well as reports in fetal akinesiaCreated: 4 Jan 2017, 9:47 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fetal akinesia deformation sequence 208150; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 616325
Publications
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 Green List (High Evidence).
Phenotypes for MUSK were set to Fetal akinesia deformation sequence 208150; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 616325
Publications for MUSK were set to 15496425; 19949040; 20371544; 25537362; 25612909
MUSK was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen MUSK was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services MUSK was added to Arthrogryposispanel. Source: Emory Genetics Laboratory Model of inheritance for gene MUSK was set to BIALLELIC, autosomal or pseudoautosomal
MUSK was added to Arthrogryposispanel. Sources: Expert list
MUSK was created by ellenmcdonagh