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Fetal anomalies

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

Naomi Baker (Victorian Clinical Genetics Services)

Red List (low evidence)

PMID:38184690 describes a male proband whose clinical presentation was presenting with PBS, including abdominal wall laxity, flared ribs, dimpled knees, dilated bladder, bilateral hydroureter and undescended testicles. WEs identified biallelic missense variants. In vitro functional studies demonstrated loss-of-function characteristics in the pressure-induced normalized open probability (NPo) of the channel while no change was seen in single-channel currents. This abnormal gating function could be recovered by the small molecule Yoda1.
Created: 1 Feb 2024, 12:37 a.m. | Last Modified: 1 Feb 2024, 12:37 a.m.
Panel Version: 1.184

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Prune belly syndrome (MONDO:0007032), PIEZO1-related

Publications

Created: 1 Feb 2024, 12:37 a.m.
Last Modified: 1 Feb 2024, 12:37 a.m.
Panel version: 1.184

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Monoallelic mutations reported in PIEZO1 with Dehydrated Hereditary Stomatocytosis. Patients typically exhibit mild to moderate compensated hemolytic anemia. They, may show perinatal edema and pseudohyperkalemia. Complications include splenomegaly and cholelithiasis, and the course is frequently associated with iron overload.

Biallelic mutations in PIEZO1 reported in 10 patients from 6 families with generalized lymphatic dysplasia (GLD) This is characterized by a uniform, widespread lymphedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. High incidence of nonimmune hydrops fetalis (NIHF) with either death or complete resolution of the neonatal edema, but childhood onset of lymphedema with or without systemic involvement also occurs. The patients and unaffected carriers were also found to have a mild, asymptomatic form of Dehydrated Hereditary Stomatocytosis. The mutations segregated with the phenotype in the families.

Suitable for fetal anomalies panel.
Created: 21 Feb 2022, 6:05 a.m. | Last Modified: 21 Feb 2022, 6:05 a.m.
Panel Version: 0.3726

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, OMIM #194380; Lymphatic malformation 6, OMIM #616843

Publications

Created: 21 Feb 2022, 6:05 a.m.
Last Modified: 21 Feb 2022, 6:05 a.m.
Panel version: 0.3726

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, OMIM #194380
  • Lymphatic malformation 6, OMIM #616843
OMIM
611184
Clinvar variants
Variants in PIEZO1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: piezo1 has been classified as Green List (High Evidence).

21 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PIEZO1 were changed from Congenital lymphatic dysplasia with hydrops and/or lymphoedema; hydrops fetalis gene 616843 to Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, OMIM #194380; Lymphatic malformation 6, OMIM #616843

21 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PIEZO1 were set to 23695678; 30712880; 26333996; 28425981

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PIEZO1 was added gene: PIEZO1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: PIEZO1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PIEZO1 were set to 23695678; 30712880; 26333996; 28425981 Phenotypes for gene: PIEZO1 were set to Congenital lymphatic dysplasia with hydrops and/or lymphoedema; hydrops fetalis gene 616843