TPM2

PanelMode of inheritanceDetails
4 panels
R-numbers: R83
Signed-off version 6.3
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
  • - Other rare neuromuscular disorders
R-numbers: R432
Signed-off version 1.0
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 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ARTHROGRYPOSIS, DISTAL, TYPE 1 108120
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ARTHROGRYPOSIS, DISTAL, TYPE 1, Arthrogryposis multiplex congenita, distal, type 1, 108120, Arthrogryposis, distal, type 2B, 601680