Familial non syndromic congenital heart disease

Gene: CRELD1

I don't know

Comment on list classification: watchlist

Created: 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

• 12632326

Red List (low evidence)

Comment when marking as ready: Likely susceptibility gene only

Created: 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

• 12632326, 21080147