Clefting disorders
Gene: PIEZO2
PIEZO2 (piezo type mechanosensitive ion channel component 2)
EnsemblGeneIds (GRCh38): ENSG00000154864
EnsemblGeneIds (GRCh37): ENSG00000154864
OMIM: 613629, Gene2Phenotype
PIEZO2 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000154864
EnsemblGeneIds (GRCh37): ENSG00000154864
OMIM: 613629, Gene2Phenotype
PIEZO2 is in 13 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- MWKS
- DA3, MARDEN-WALKER SYNDROME
- ARTHROGRYPOSIS, DISTAL, TYPE 3
- OMIM
- 613629
- Clinvar variants
- Variants in PIEZO2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Clefting disorders
- Additional findings_Paediatric
- Prepair 1000+
- Blepharophimosis
- Arthrogryposis
- Mendeliome
- BabyScreen+ newborn screening
- Aortopathy_Connective Tissue Disorders
- Intellectual disability syndromic and non-syndromic
- Congenital ophthalmoplegia
- Callosome
History Filter Activity
16 Sep 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PIEZO2 was added gene: PIEZO2 was added to Clefting_GEL. Sources: Expert Review Green Mode of inheritance for gene: PIEZO2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PIEZO2 were set to 24726473 Phenotypes for gene: PIEZO2 were set to MWKS; DA3, MARDEN-WALKER SYNDROME; ARTHROGRYPOSIS, DISTAL, TYPE 3