Neuromuscular arthrogryposisGene: TTN
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
Myopathy, early-onset, with fatal cardiomyopathy, 611705
Variants in this GENE are reported as part of current diagnostic practice
Source NHS GMS was added to TTN.
Source Expert Review Green was added to TTN. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: TTN was added gene: TTN was added to Neuromuscular arthrogryposis. Sources: London South GLH Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTN were set to Myopathy, early-onset, with fatal cardiomyopathy, 611705