Arthrogryposis
Gene: TNNT3
Comment on list classification: One green review. The gene is not linked to a phenotype in G2P. One family report for association with arthrogryposis, distal, type 2B (PMID: 12865991) and one case for association with distal arthrogryposis-1 (PMID: 10525521) reported in OMIM. Additional studies identified in literature search; a 4-generation Indian family (PMID: 25337069), PMID: 23401156; 21402185; 19142688. Results in more than 3 unrelated cases, therefore should be promoted from red to green.Created: 3 May 2016, 1:48 p.m.
Phenotypes for gene: TNNT3 were changed from Arthrogryposis Multiplex Congenita; Distal Arthrogryposis Multiplex Congenita; Distal Arthrogryposis Type 1; Distal Arthrogryposis Type 2B to Arthrogryposis, distal, type 2B2, OMIM:618435; Arthrogryposis, distal, type 2B2, MONDO:0032750
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.
TNNT3 was added to Arthrogryposispanel. Source: UKGTN TNNT3 was added to Arthrogryposispanel. Source: Expert
TNNT3 was added to Arthrogryposispanel. Source: Expert list
Publications for TNNT3 were set to PMID: 12865991; 10525521; 25337069; 23401156; 21402185; 19142688
This gene has been classified as Green List (High Evidence).
Phenotypes for TNNT3 were set to Arthrogryposis Multiplex Congenita; Distal Arthrogryposis Multiplex Congenita; Distal Arthrogryposis Type 1; Distal Arthrogryposis Type 2B
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
Model of inheritance for gene TNNT3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TNNT3 was added to Arthrogryposispanel. Sources: Illumina TruGenome Clinical Sequencing Services