Familial non syndromic congenital heart disease
Gene: CRELD1
Comment on list classification: watchlistCreated: 4 Jul 2017, 7:38 a.m.
3/50 with AVSD found to have mutations, two isolated partial AVSD and one with heterotaxy. However it has also been postulated as a susceptibility locus. Further evidence of the role in AVSD is needed therefore considered amber.Created: 4 Jul 2017, 7:24 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Atrioventricular septal defect, partial, with heterotaxy syndrome, 2; Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217; Visceral Heterotaxy Atrioventricular Septal Defect, Susceptibility To, 2
Publications
Comment when marking as ready: Likely susceptibility gene onlyCreated: 28 Nov 2016, 3:57 p.m.
On GOSH heterotaxy panel. Recognised on G2P as causing heterotaxy rather than AVSD. Likely to increase risk of AVSD when combined wit other risk factors such as trisomy 21.Created: 28 Nov 2016, 3:56 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Atrioventricular septal defect, partial, with heterotaxy syndrome 606217
Publications
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Promoted to version 1 by Alice Gardham on 26th January
This gene has been classified as Red List (Low Evidence).
CRELD1 was added to Familial non syndromic congenital heart diseasepanel. Sources: Radboud University Medical Center, Nijmegen
CRELD1 was created by agardham