Genomics England
GMS Panels
Panels
Genes and Entities

PIEZO2

piezo type mechanosensitive ion channel component 2
OMIM: 613629
PanelMode of inheritanceDetails
5 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 7.7
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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 6.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ARTHROGRYPOSIS, DISTAL, TYPE 3, DA3, MARDEN-WALKER SYNDROME, MWKS
Green
in Congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R81
Signed-off version 4.42
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis, distal, type 3, OMIM:114300: Arthrogryposis, distal, type 5, OMIM:108145: Arthrogryposis, distal, with proprioception and touch, OMIM:617146
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
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
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
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