MYH3

myosin heavy chain 3
OMIM: 160720
PanelMode of inheritanceDetails
5 panels
R-numbers: R83
Signed-off version 6.3
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
  • - Other rare neuromuscular disorders
R-numbers: R432
Signed-off version 1.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM:193700, Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM:618436, Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A, OMIM:178110, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B, OMIM:618469
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700, Recessive Spondylocarpotarsal Synostosis Syndrome
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
DISTAL ARTHROGRYPOSIS TYPE 2B, DISTAL ARTHROGRYPOSIS TYPE 2A
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A, OMIM:178110, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B, OMIM:618469, contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, MONDO:0008338