Familial non syndromic congenital heart disease

Gene: ZFPM2

Red List (low evidence)

ZFPM2 (zinc finger protein, FOG family member 2)
EnsemblGeneIds (GRCh38): ENSG00000169946
EnsemblGeneIds (GRCh37): ENSG00000169946
OMIM: 603693, Gene2Phenotype
ZFPM2 is in 4 panels

3 reviews

Bernard Keavney (The University of Manchester)

Red List (low evidence)

Alice Gardham (Genomics England)

Comment when marking as ready: Only reported in three families so far
Created: 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

Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Tetralogy of Fallot
OMIM
603693
Clinvar variants
Variants in ZFPM2
Penetrance
Complete
Panels with this gene

History Filter Activity

26 Jan 2017, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January

28 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

28 Nov 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ZFPM2 was added to Familial non syndromic congenital heart diseasepanel. Sources: Radboud University Medical Center, Nijmegen

28 Nov 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ZFPM2 was created by ellenmcdonagh