Laterality disorders and isomerism

Gene: CRELD1

I don't know

Comment on list classification: Changed to Amber until further evidence supplied from Ian Berry who may have more evidence to make upgrade the rating to Green ( GMS Respiratory Specialist Test Group webex call 18th Jan 2019)

Created: 21 Jan 2019, 2:05 p.m.

Review from Helen Brittain (Genomics England Curator) on the Familial non syndromic congenital heart disease panel 4 Jul 2017. Panel version: 1.8. Rating Amber. Comment on list classification: watchlist. 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. 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. Publictions: 12632326

Created: 21 Jan 2019, 2:03 p.m.

Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: CRELD1; Suggested initial gene rating: Green; Evidence for inclusion: OMIM AVSD with heterotaxy syndrome; association w/ AVSD in Down syndrome patients; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given

Created: 5 Dec 2018, 12:52 p.m.