Familial non syndromic congenital heart disease
Gene: GDF1Comment on mode of inheritance: Updated MOI from 'monoallelic' only to 'both mono- and biallelic' to maintain consistency with other panels (including GMS) where is was determined that the evidence is sufficient, albeit limited, to justify this MOI.Created: 31 Oct 2022, 12:02 p.m. | Last Modified: 31 Oct 2022, 12:02 p.m.
Panel Version: 1.78
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
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 casesCreated: 28 Nov 2016, 2:04 p.m.
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
Phenotypes for gene: GDF1 were changed from Tetralogy of Fallot; Double-outlet right ventricle, 217095; Right atrial isomerism, 208530; Visceral Heterotaxy, Transposition Of The Great Arteries, Dextro-Looped 3 to Congenital heart defects, multiple types, 6, OMIM:613854; Right atrial isomerism (Ivemark), OMIM:208530; Tetralogy of Fallot; Double-outlet right ventricle; Right atrial isomerism; Visceral Heterotaxy, Transposition Of The Great Arteries
Mode of inheritance for gene: GDF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
Publications for GDF1 were set to 20413652; 28991257
Promoted to version 1 by Alice Gardham on 26th January
Mode of inheritance for GDF1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
GDF1 was added to Familial non syndromic congenital heart diseasepanel. Sources: Radboud University Medical Center, Nijmegen
GDF1 was created by ellenmcdonagh