Familial non syndromic congenital heart disease
Gene: ZFPM2EnsemblGeneIds (GRCh38): ENSG00000169946
EnsemblGeneIds (GRCh37): ENSG00000169946
OMIM: 603693, Gene2Phenotype
ZFPM2 is in 5 panels
3 reviews
Bernard Keavney (The University of Manchester)
Alice Gardham (Genomics England)
Comment when marking as ready: Only reported in three families so farCreated: 28 Nov 2016, 3:04 p.m.
Ellen McDonagh (Genomics England Curator)
This is a possible DD gene for tetralogy of fallot, diaphragmatic hernia 3, and 46,XY Gonadal dysgenesis.Created: 22 Jul 2016, 9:07 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Tetralogy of Fallot, OMIM:187500
- OMIM
- 603693
- Clinvar variants
- Variants in ZFPM2
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: ZFPM2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ZFPM2 were changed from Tetralogy of Fallot to Tetralogy of Fallot, OMIM:187500
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)ZFPM2 was added to Familial non syndromic congenital heart diseasepanel. Sources: Radboud University Medical Center, Nijmegen
Created
Ellen McDonagh (Genomics England Curator)ZFPM2 was created by ellenmcdonagh