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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 13 panels

1 review

Clare Hunt (Victorian Clinical Genetics Services)

Green List (high evidence)

PIEZO2, HGNC:26270. From OMIM; biallelic variants cause distal arthrogryposis with impaired proprioception and touch, an autosomal recessive neurologic disorder characterized by loss of certain mechanosensation modalities resulting in ataxia, difficulty walking, dysmetria, muscle weakness and atrophy, and progressive skeletal contractures.
Patients have onset of symptoms in early childhood.
More than 5 unrelated families reported.
Created: 5 Feb 2025, 5:40 a.m. | Last Modified: 5 Feb 2025, 5:40 a.m.
Panel Version: 1.1456

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis, distal, with impaired proprioception and touch, MIM#617146

Publications

Created: 5 Feb 2025, 5:40 a.m.
Last Modified: 5 Feb 2025, 5:40 a.m.
Panel version: 1.1456

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Arthrogryposis, distal, with impaired proprioception and touch, MIM#617146
OMIM
613629
Clinvar variants
Variants in PIEZO2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: piezo2 has been classified as Green List (High Evidence).

7 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PIEZO2 were changed from Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3), Autosomal recessive to Arthrogryposis, distal, with impaired proprioception and touch, MIM#617146

7 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PIEZO2 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PIEZO2 was added gene: PIEZO2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PIEZO2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PIEZO2 were set to Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3), Autosomal recessive