Cytopenias and congenital anaemias
Gene: PIEZO1Comment 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: 23581886Created: 3 Mar 2017, 3 p.m.
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
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for PIEZO1 were set to 22529292; 23695678; 16898969; 23479567; 23973043;23581886
Publications for PIEZO1 were set to 22529292; 23695678; 16898969;23479567;23973043
Publications for PIEZO1 were set to 22529292; 23695678;16898969
Phenotypes for PIEZO1 were set to Stomatocytosis; Dehydrated hereditary stomatocytosis; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380;Hereditary xerocytosis
Phenotypes for PIEZO1 were set to Stomatocytosis;Dehydrated hereditary stomatocytosis;Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380
PIEZO1 was created by LouiseD
PIEZO1 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)