| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Red cell disorders v2.0 | PIEZO1 | Gene migrated from ENSG00000103335 to ENSG00000103335 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v1.8 | PIEZO1 | Zornitza Stark Phenotypes for gene: PIEZO1 were changed from Dehydrated hereditary stomatocytosis with or without pseudohyperkalaemia and/or perinatal oedema, MIM# 194380 to Dehydrated hereditary stomatocytosis with or without pseudohyperkalaemia and/or perinatal oedema, MIM# 194380; Erythrocytosis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v1.7 | PIEZO1 | Zornitza Stark Publications for gene: PIEZO1 were set to 22529292; 21944700; 23695678; 23479567 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v1.6 | PIEZO1 | Zornitza Stark edited their review of gene: PIEZO1: Added comment: Pathogenic variants (gain-of-function missense) in the PIEZO1 has been previously identified as a cause of hereditary xerocytosis. Recently, it has been Identified that similar (likely) pathogenic GoF missense variants likely causes erythrocytosis in 5 individuals. Functional analysis confirms pathogenicity of the variants. Patients also displayed features of hereditary xerocytosis.; Changed publications: 21944700, 23695678, 23479567, 33181827; Changed phenotypes: Dehydrated hereditary stomatocytosis with or without pseudohyperkalaemia and/or perinatal oedema, MIM# 194380, Erythrocytosis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.118 | PIEZO1 | Zornitza Stark Marked gene: PIEZO1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.118 | PIEZO1 | Zornitza Stark Gene: piezo1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.118 | PIEZO1 | Zornitza Stark Phenotypes for gene: PIEZO1 were changed from Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380; 194380 Stomatocytosis; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; Stomatocytosis; Dehydrated hereditary stomatocytosis; 616843 Lymphatic malformation 6; 194380 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; Hereditary xerocytosis to Dehydrated hereditary stomatocytosis with or without pseudohyperkalaemia and/or perinatal oedema, MIM# 194380 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.117 | PIEZO1 | Zornitza Stark Publications for gene: PIEZO1 were set to 22529292; 23695678 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.116 | PIEZO1 | Zornitza Stark Mode of inheritance for gene: PIEZO1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.115 | PIEZO1 | Zornitza Stark reviewed gene: PIEZO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21944700, 23695678, 23479567; Phenotypes: Dehydrated hereditary stomatocytosis with or without pseudohyperkalaemia and/or perinatal oedema, MIM# 194380; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.1 | PIEZO1 | Zornitza Stark Added phenotypes 194380 Stomatocytosis; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; Stomatocytosis; Dehydrated hereditary stomatocytosis; 616843 Lymphatic malformation 6; 194380 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; Hereditary xerocytosis for gene: PIEZO1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.0 | PIEZO1 |
Zornitza Stark gene: PIEZO1 was added gene: PIEZO1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH Mode of inheritance for gene: PIEZO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PIEZO1 were set to 22529292; 23695678 Phenotypes for gene: PIEZO1 were set to Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380; Dehydrated hereditary stomatocytosis; 194380 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; 194380 Stomatocytosis; Hereditary xerocytosis; Stomatocytosis; 616843 Lymphatic malformation 6 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||