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  2. Neuromuscular arthrogryposis
  3. PIEZO2
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Neuromuscular arthrogryposis

Gene: PIEZO2

Green List (high evidence)
PIEZO2 (piezo type mechanosensitive ion channel component 2)
EnsemblGeneIds (GRCh38): ENSG00000154864
EnsemblGeneIds (GRCh37): ENSG00000154864
OMIM: 613629, Gene2Phenotype
PIEZO2 is in 8 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital May 2019 on behalf of London South GLH for the GMS Neurology specialist test group
Created: 16 May 2019, 9:33 p.m.
Created: 16 May 2019, 9:33 p.m.

Panel version: 0.16

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
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

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 May 2019, 9:27 p.m.

Panel version: 0.15

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • London South GLH
Phenotypes
  • Arthrogryposis, distal, type 3, 114300: Arthrogryposis, distal, type 5, 108145
  • Arthrogryposis, distal, with proprioception and touch, 617146
OMIM
613629
Clinvar variants
Variants in PIEZO2
Penetrance
None
Panels with this gene

History Filter Activity

16 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PIEZO2.

16 May 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to PIEZO2. Rating Changed from Red List (low evidence) to Green List (high evidence)

16 May 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

gene: PIEZO2 was added gene: PIEZO2 was added to Neuromuscular arthrogryposis. Sources: London South GLH Mode of inheritance for gene: PIEZO2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PIEZO2 were set to Arthrogryposis, distal, type 3, 114300: Arthrogryposis, distal, type 5, 108145; Arthrogryposis, distal, with proprioception and touch, 617146