Genomics England
GMS Panels
Panels
Genes and Entities

TPM2

tropomyosin 2
OMIM: 190990
PanelMode of inheritanceDetails
4 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Arthrogryposis multiplex congenita, distal, type 1, 108120, Arthrogryposis, distal, type 2B, 601680, Nemaline myopathy 4, autosomal dominant, 609285, CAP myopathy 2, 609285, Arthrogryposis Multiplex Congenita, Arthrogryposis, Distal, Type 1A, DA1A, Arthrogryposis, Distal, Type 2B, DA2B, distal arthrogryposis, Escobar syndrome, congenital myopathy, nemaline myopathy, Nemaline Myopathy, Dominant
Green
in Congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R81
Signed-off version 5.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
CAP myopathy 2, OMIM:609285, Nemaline myopathy 4, autosomal dominant, OMIM:609285
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ARTHROGRYPOSIS, DISTAL, TYPE 1 108120
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ARTHROGRYPOSIS, DISTAL, TYPE 1, Arthrogryposis multiplex congenita, distal, type 1, 108120, Arthrogryposis, distal, type 2B, 601680