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  3. PIEZO2
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Fetal anomalies

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

2 reviews

Ain Roesley (Victorian Clinical Genetics Services)

PMID: 30941898; total of 9 unrelated families
Created: 3 Mar 2020, 12:04 a.m. | Last Modified: 3 Mar 2020, 12:04 a.m.
Panel Version: 0.22

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 3 Mar 2020, 12:04 a.m.
Last Modified: 3 Mar 2020, 12:04 a.m.
Panel version: Imported from Arthrogryposis panel version 0.22

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Gene is associated with several phenotypes, contractures are a key feature.
Created: 10 Feb 2020, 4:54 a.m. | Last Modified: 2 Mar 2022, 8:31 a.m.
Panel Version: 0.4585

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Marden-Walker syndrome, MIM# 248700; Arthrogryposis, distal, type 3, MIM# 114300

Publications

Created: 10 Feb 2020, 4:54 a.m.
Last Modified: 2 Mar 2022, 8:31 a.m.
Panel version: 0.4585

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Marden-Walker syndrome, MIM# 248700
  • Arthrogryposis, distal, type 3, MIM# 114300
OMIM
613629
Clinvar variants
Variants in PIEZO2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Mar 2022, 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).

2 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PIEZO2 were changed from Ataxia, dysmetria, contractures & scoliosis with normal cognition but loss of discriminative touch perception; ARTHROGRYPOSIS, DISTAL, TYPE 3 to Marden-Walker syndrome, MIM# 248700; Arthrogryposis, distal, type 3, MIM# 114300

2 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PIEZO2 were set to

2 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PIEZO2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

24 Oct 2021, 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 Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: PIEZO2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PIEZO2 were set to Ataxia, dysmetria, contractures & scoliosis with normal cognition but loss of discriminative touch perception; ARTHROGRYPOSIS, DISTAL, TYPE 3