PIEZO2

piezo type mechanosensitive ion channel component 2
OMIM: 613629
PanelMode of inheritanceDetails
5 panels
R-numbers: R83
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
?Marden-Walker syndrome, 248700, Arthrogryposis, distal, type 3, 114300, Arthrogryposis, distal, type 5, 108145
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ARTHROGRYPOSIS, DISTAL, TYPE 3, DA3, MARDEN-WALKER SYNDROME, MWKS
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R81
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis, distal, type 3, 114300: Arthrogryposis, distal, type 5, 108145: Arthrogryposis, distal, with proprioception and touch, 617146
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
ARTHROGRYPOSIS, DISTAL, TYPE 3 114300, Ataxia, dysmetria, contractures & scoliosis with normal cognition but loss of discriminative touch perception
R-numbers: R21
Signed-off version 1.92
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
ARTHROGRYPOSIS, DISTAL, TYPE 3, Ataxia, dysmetria, contractures & scoliosis with normal cognition but loss of discriminative touch perception