Muscular dystrophy and myopathy_Paediatric
Gene: TNNT3
2 unrelated families with nemaline myopathy and splice variants. Also, a supporting mouse model.
Sources: OtherCreated: 5 Jun 2023, 5:50 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nemaline myopathy MONDO:0018958
Publications
Distal arthrogryposis type 2B2 (DA2B2) is characterized by congenital contractures of the distal limb joints and facial dysmorphism. Marked inter- and intrafamilial variability has been reported. At least 5 unrelated families have been reported.
Evidence of GOF reported in PMID 17194691.
Gene encodes troponin T3.Created: 16 Oct 2020, 9:39 a.m. | Last Modified: 16 Oct 2020, 9:39 a.m.
Panel Version: 0.300
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Arthrogryposis, distal, type 2B2, MIM# 618435
Publications
Mode of pathogenicity
Other
Gene: tnnt3 has been classified as Green List (High Evidence).
Gene: tnnt3 has been classified as Green List (High Evidence).
gene: TNNT3 was added gene: TNNT3 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: TNNT3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNNT3 were set to 33977145; 29266598; 23775847 Phenotypes for gene: TNNT3 were set to Nemaline myopathy MONDO:0018958 Review for gene: TNNT3 was set to GREEN