Neuromuscular arthrogryposisGene: VPS33B
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
BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis renal dysfunction, and cholestasis 1, 208085
Variants in this GENE are reported as part of current diagnostic practice
Source NHS GMS was added to VPS33B.
Source Expert Review Green was added to VPS33B. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: VPS33B was added gene: VPS33B was added to Neuromuscular arthrogryposis. Sources: London South GLH Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS33B were set to Arthrogryposis renal dysfunction, and cholestasis 1, 208085