Familial non syndromic congenital heart disease
Gene: NFATC1

NFATC1 (nuclear factor of activated T-cells 1)
EnsemblGeneIds (GRCh38): ENSG00000131196
EnsemblGeneIds (GRCh37): ENSG00000131196
OMIM: 600489, Gene2Phenotype
NFATC1 is in 1 panel

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

No evidence that mutations cause congenital heart disease. Not recognised on OMIM or G2P
Created: 28 Nov 2016, 2:47 p.m.

Mode of inheritance
Unknown

Created: 28 Nov 2016, 2:47 p.m.

Panel version: 0.7

Details

Sources

Expert Review Red
Radboud University Medical Center, Nijmegen

Phenotypes

Tetralogy of Fallot (Silversides (2012) PLoS Genet 8)

OMIM

600489

Clinvar variants

Variants in NFATC1

Penetrance

Complete

Publications

http://dx.doi.org/10.1371/journal.pgen.1002843

Panels with this gene

Familial non syndromic congenital heart disease

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)

NFATC1 was added to Familial non syndromic congenital heart diseasepanel. Sources: Radboud University Medical Center, Nijmegen

28 Nov 2016, Gel status: 0

Created