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  3. PIEZO2
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Hereditary neuropathy or pain disorder

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

3 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 24 Feb 2025, 5:02 p.m. | Last Modified: 24 Feb 2025, 5:02 p.m.
Panel Version: 6.148

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 24 Feb 2025, 5:02 p.m.
Last Modified: 24 Feb 2025, 5:02 p.m.
Panel version: 6.148

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added to this panel by Alexander Rossor (UCL Institute of Neurology). Biallelic variants cause distal arthrogryposis with impaired proprioception and touch. Mild sensory axonal neuropathy has been reported in some individuals (PMID: 27653382; 27843126; 27974811). Sufficient unrelated cases to promote this gene to Green at the next GMS panel update.

Neuropathy is not a feature of dominant phenotypes associated with PIEZO2.
Created: 31 Oct 2024, 11:04 a.m. | Last Modified: 31 Oct 2024, 11:04 a.m.
Panel Version: 6.2
Created: 31 Oct 2024, 11:04 a.m.
Last Modified: 31 Oct 2024, 11:04 a.m.
Panel version: 6.2

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Sources: Expert list
Created: 19 Oct 2024, 11:04 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
arthrodryposis; sensory neuropathy

Publications

Created: 19 Oct 2024, 11:04 p.m.

Panel version: 5.19

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Arthrogryposis, distal, with impaired proprioception and touch, OMIM:617146
OMIM
613629
Clinvar variants
Variants in PIEZO2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

24 Feb 2025, Gel status: 3

Removed Tag, Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: PIEZO2. Tag Q3_24_NHS_review was removed from gene: PIEZO2.

24 Feb 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source NHS GMS was added to PIEZO2. Source Expert Review Green was added to PIEZO2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 Oct 2024, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: PIEZO2 were set to 27653382

31 Oct 2024, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: piezo2 has been classified as Amber List (Moderate Evidence).

31 Oct 2024, Gel status: 0

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_24_promote_green tag was added to gene: PIEZO2. Tag Q3_24_NHS_review tag was added to gene: PIEZO2.

30 Oct 2024, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PIEZO2 were changed from arthrodryposis; sensory neuropathy to Arthrogryposis, distal, with impaired proprioception and touch, OMIM:617146

19 Oct 2024, Gel status: 0

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

Alexander Rossor (UCL Institute of Neurology)

gene: PIEZO2 was added gene: PIEZO2 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: PIEZO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIEZO2 were set to 27653382 Phenotypes for gene: PIEZO2 were set to arthrodryposis; sensory neuropathy Penetrance for gene: PIEZO2 were set to Complete Review for gene: PIEZO2 was set to GREEN