Familial non syndromic congenital heart disease

Gene: DISP1

Red List (low evidence)

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)

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

Ellen McDonagh (Genomics England Curator)

DISP1 was created by ellenmcdonagh