TPM2

PanelMode of inheritanceDetails
3 panels
R-numbers: R83
Signed-off version 3.2
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
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R81
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CAP myopathy 2 609285, Nemaline myopathy 4, autosomal dominant 609285, Arthrogryposis multiplex congenita, distal, type1 108120: Arthrogryposis, distal, type 2B 601680
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ARTHROGRYPOSIS, DISTAL, TYPE 1, Arthrogryposis multiplex congenita, distal, type 1, 108120, Arthrogryposis, distal, type 2B, 601680