Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: TNNT3Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).Created: 28 Nov 2019, 4:08 p.m. | Last Modified: 28 Nov 2019, 4:08 p.m.
Panel Version: 1.108
Phenotypes for gene: TNNT3 were changed from Arthrogryposis, distal, type 2B, 601680; Arthrogryposis to Arthrogryposis, distal, type 2B2, OMIM:618435; Arthrogryposis, distal, type 2B2, MONDO:0032750
Gene: tnnt3 has been classified as Red List (Low Evidence).
Source NHS GMS was added to TNNT3.
Source Yorkshire and North East GLH was added to TNNT3.
Phenotypes for gene: TNNT3 were changed from Arthrogryposis, distal, type 2B, 601680 to Arthrogryposis, distal, type 2B, 601680; Arthrogryposis
Mode of inheritance for gene TNNT3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Arthrogryposis, distal, type 2B, 601680 for gene: TNNT3 Publications for gene TNNT3 were changed from to 12865991; 12592607
gene: TNNT3 was added gene: TNNT3 was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: TNNT3 was set to