Genomics England
GMS Panels
Panels
Genes and Entities

TNNI2

troponin I2, fast skeletal type
OMIM: 191043
PanelMode of inheritanceDetails
3 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 6.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Arthrogryposis multiplex congenita, distal, type 2B, 601680, Arthrogryposis Multiplex Congenita, Distal Arthrogryposis Multiplex Congenita, Arthrogryposis, Distal, Type 2B
Green
in Congenital muscular dystrophy and congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R432
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Arthrogryposis, distal, type 2B1, OMIM:601680
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Arthrogryposis multiplex congenita, distal, type 2B 601680