TNNT3

troponin T3, fast skeletal type
OMIM: 600692
PanelMode of inheritanceDetails
4 panels
R-numbers: R83
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Arthrogryposis, distal, type 2B2, OMIM:618435, Arthrogryposis, distal, type 2B2, MONDO:0032750
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R81
Signed-off version 4.37
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Arthrogryposis, distal, type 2B2, OMIM:618435
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
TNNT3-associated congenital myopathy (biallelic)
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Arthrogryposis, distal, type 2B2, OMIM:618435, Arthrogryposis, distal, type 2B2, MONDO:0032750