Familial non syndromic congenital heart disease

Gene: GDF1

Green List (high evidence)

GDF1 (growth differentiation factor 1)
EnsemblGeneIds (GRCh38): ENSG00000130283
EnsemblGeneIds (GRCh37): ENSG00000130283
OMIM: 602880, Gene2Phenotype
GDF1 is in 10 panels

4 reviews

Bernard Keavney (The University of Manchester)

Red List (low evidence)

Helen Brittain (Genomics England Curator)

Single reported family with 5 siblings with right atrial isomerism (RAI): Appropriate to be green on the heart panel, but less evidence for a specific isomerism phenotype.
Created: 4 Jul 2017, 7:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Right atrial isomerism, 208530; Visceral Heterotaxy, Transposition Of The Great Arteries, Dextro-Looped 3

Publications

Alice Gardham (Genomics England)

Comment on list classification: Recognised on G2P as causing various types of congenital heart disease. On GOSH heterotaxy panel. Testing offered in several European labs. Reasonable number of reported cases
Created: 28 Nov 2016, 2:04 p.m.

Ellen McDonagh (Genomics England Curator)

Comment on publications: Homozygous variant c.1091T>C reported in PMID:28991257 in 10 patients that clustered with Ashkenazim, suggesting it is a founder variant.
Created: 18 Oct 2017, 9:59 a.m.
This is a possible DD gene for conotruncal heart malformations, tetralogy of fallot, and transposition of the great arteries dextro-looped type 3.
Created: 22 Jul 2016, 9:01 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Tetralogy of Fallot
  • Double-outlet right ventricle, 217095
  • Right atrial isomerism, 208530
  • Visceral Heterotaxy, Transposition Of The Great Arteries, Dextro-Looped 3
OMIM
602880
Clinvar variants
Variants in GDF1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

18 Oct 2017, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for GDF1 were set to Tetralogy of Fallot; Double-outlet right ventricle, 217095; Right atrial isomerism, 208530; Visceral Heterotaxy, Transposition Of The Great Arteries, Dextro-Looped 3

18 Oct 2017, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GDF1 were set to 20413652; 28991257

26 Jan 2017, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January

19 Dec 2016, Gel status: 4

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for GDF1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

28 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

28 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

28 Nov 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GDF1 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)

GDF1 was created by ellenmcdonagh