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Cytopenias and congenital anaemias

Gene: PIEZO1

Green List (high evidence)

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.

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Stomatocytosis
  • Dehydrated hereditary stomatocytosis
  • Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380
  • Hereditary xerocytosis
OMIM
611184
Clinvar variants
Variants in PIEZO1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 Mar 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for PIEZO1 were set to 22529292; 23695678; 16898969; 23479567; 23973043;23581886

3 Mar 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for PIEZO1 were set to 22529292; 23695678; 16898969;23479567;23973043

3 Mar 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for PIEZO1 were set to 22529292; 23695678;16898969

3 Mar 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for PIEZO1 were set to Stomatocytosis; Dehydrated hereditary stomatocytosis; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380;Hereditary xerocytosis

3 Mar 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for PIEZO1 were set to Stomatocytosis;Dehydrated hereditary stomatocytosis;Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380

17 Feb 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

PIEZO1 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

PIEZO1 was created by LouiseD