Familial non syndromic congenital heart disease
Gene: DISP1

DISP1 (dispatched RND transporter family member 1)
EnsemblGeneIds (GRCh38): ENSG00000154309
EnsemblGeneIds (GRCh37): ENSG00000154309
OMIM: 607502, Gene2Phenotype
DISP1 is in 4 panels

1 review

Bernard Keavney (The University of Manchester)

Red List (low evidence)

Created: 5 Nov 2017, 2:46 a.m.

Panel version: Imported from "Congenital heart disease" panel version Imported from "Fallots tetralogy" panel version 0

Details

Sources

Expert Review Red
Radboud University Medical Center, Nijmegen

Phenotypes

Craniofacial and neuro-developmental abnormalities (Roessler (2009) Hum Genet125,393)
Diaphragmatic hernia, congenital (Kantarci (2010) Am J Med Genet A 152A,2493)
Tetralogy of Fallot (Silversides (2012) PLoS Genet 8, e1002843)

OMIM

607502

Clinvar variants

Variants in DISP1

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)

DISP1 was added to Familial non syndromic congenital heart diseasepanel. Sources: Radboud University Medical Center, Nijmegen

28 Nov 2016, Gel status: 0

Created