This Panel is marked as Retired
Meiges disease
Gene: PIEZO1
PIEZO1 (piezo type mechanosensitive ion channel component 1)
EnsemblGeneIds (GRCh38): ENSG00000103335
EnsemblGeneIds (GRCh37): ENSG00000103335
OMIM: 611184, Gene2Phenotype
PIEZO1 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000103335
EnsemblGeneIds (GRCh37): ENSG00000103335
OMIM: 611184, Gene2Phenotype
PIEZO1 is in 7 panels
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Primary Lymphoedema, Generalised lymphatic dysplasia
- Lymphedema, hereditary, III 616843
- OMIM
- 611184
- Clinvar variants
- Variants in PIEZO1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
30 Sep 2016, Gel status: 4
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Model of inheritance for gene PIEZO1 was set to BIALLELIC, autosomal or pseudoautosomal
29 Jul 2016, Gel status: 4
panel promoted to version 1
Richard Scott (Genomics England Curator)Ready for version 1
29 Jul 2016, Gel status: 4
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
29 Jul 2016, Gel status: 4
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
5 Nov 2015, Gel status: 0
Created
Pia Ostergaard (St George's)PIEZO1 was created by posterga
5 Nov 2015, Gel status: 0
Added New Source
Pia Ostergaard (St George's)PIEZO1 was added to Meiges diseasepanel. Sources: Expert list