Cytopenias and congenital anaemias
Gene: PIEZO1

PIEZO1 (piezo type mechanosensitive ion channel component 1)
EnsemblGeneIds (GRCh38): ENSG00000103335
EnsemblGeneIds (GRCh37): ENSG00000103335
OMIM: 611184, Gene2Phenotype
PIEZO1 is in 7 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on publications: Evidence for four unrelated cases showing variants in PIEZO1 cause the phenotype of Dehydrated hereditary stomatocytosis. PMID: 22529292 (large numbers of affecteds in 2 unrelated families), PMID:23695678 (14 affecteds in 3 generation family), PMID:16898969 (1 affected), PMID: 23581886
Created: 3 Mar 2017, 3 p.m.

Created: 3 Mar 2017, 2:41 p.m.

Panel version: 0.339

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Stomatocytosis; Dehydrated hereditary stomatocytosis

Publications

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

Created: 16 Jan 2017, 3:46 p.m.

Panel version: Imported from "Anaemias and red cell disorders" panel version 0.9

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
BRIDGE consortium (NIHRBR-RD)

Phenotypes

Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, OMIM:194380
Hereditary xerocytosis

OMIM

611184

Clinvar variants

Variants in PIEZO1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

8 Dec 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PIEZO1 were changed from Stomatocytosis; Dehydrated hereditary stomatocytosis; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380; Hereditary xerocytosis to Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, OMIM:194380; Hereditary xerocytosis

11 Mar 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

3 Mar 2017, Gel status: 4