Genomics England
GMS Panels
Panels
Genes and Entities

TPM3

tropomyosin 3
OMIM: 191030
PanelMode of inheritanceDetails
3 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 5.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
nemaline myopathy, Nemaline Myopathy, Nemaline myopathy 1, autosomal dominant or recessive, 609284, Myopathy, congenital, with fiber-type disproportion 255310
Green
in Congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R81
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
CAP myopathy 1, OMIM:609284, Myopathy, congenital, with fiber-type disproportion, OMIM:255310, Nemaline myopathy 1, autosomal dominant or recessive, OMIM:609284
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Congenital fiber-type disproportion myopathy 255310