MYH3

myosin heavy chain 3
OMIM: 160720
PanelMode of inheritanceDetails
4 panels
R-numbers: R83
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Arthrogryposis, distal, type 2A, 193700, Arthrogryposis, distal, type 2B, 601680, Arthrogryposis Multiplex Congenita
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
Arthrogryposis, distal, type 2A 193700, Arthrogryposis, distal, type 2B 601680, Arthrogryposis, distal, type 8 178110
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
DISTAL ARTHROGRYPOSIS TYPE 2A 193700, DISTAL ARTHROGRYPOSIS TYPE 2B 601680, Recessive Spondylocarpotarsal Synostosis Syndrome
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
DISTAL ARTHROGRYPOSIS TYPE 2B, DISTAL ARTHROGRYPOSIS TYPE 2A