Neuromuscular arthrogryposisGene: MYBPC1
Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital May 2019 on behalf of London South GLH for the GMS Neurology specialist test group
Created: 16 May 2019, 9:33 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4, 614915
Variants in this GENE are reported as part of current diagnostic practice
Source NHS GMS was added to MYBPC1.
Source Expert Review Green was added to MYBPC1. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: MYBPC1 was added gene: MYBPC1 was added to Neuromuscular arthrogryposis. Sources: London South GLH Mode of inheritance for gene: MYBPC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MYBPC1 were set to Lethal congenital contracture syndrome 4, 614915; Arthrogryposis, distal, type 1B 614335