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| Congenital Heart Defect v1.7 | Lucy Spencer Copied gene SORBS2 from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v1.7 | SORBS2 |
Lucy Spencer gene: SORBS2 was added gene: SORBS2 was added to Congenital Heart Defect. Sources: Expert Review Amber,Literature Mode of inheritance for gene: SORBS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SORBS2 were set to 34099102; 32808564; 39912518; 31790498 Phenotypes for gene: SORBS2 were set to congenital heart disease MONDO:0005453, SORBS2-related; familial Alzheimer disease MONDO:0100087, SORBS2-related |
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| Congenital Heart Defect v0.295 | HAND2 |
Chris McEvoy changed review comment from: Single additional relevant reports detailing associations between HAND2 variants and cardiac defects published since previous review (Jan 2022). No segregation analysis, de nova mutation is large deletion encompassing 3 genes: PMID: 36427970 Chen et al 2022. Prenatal detection of de novo 17.8Mb deletion of 4q34.1→qter including HAND2, SORBS2 and DUX4. Associated with low pregnancy associated plasma protein-A (PAPP-A) and low placental growth factor (PlGF) in the first-trimester maternal serum screening, congenital heart defect (CHD) on fetal ultrasound and a false negative non-invasive prenatal testing (NIPT) result. No pathogenic variants listed in Clinvar apart from p.(Glu67*) - see previously reviewed PMID:30217752. Insufficient additional evidence to change gene rating from Amber.; to: Single additional relevant report detailing associations between HAND2 variants and cardiac defects published since previous review (Jan 2022). No segregation analysis, de novo mutation is large deletion encompassing 3 genes: PMID: 36427970 Chen et al 2022. Prenatal detection of de novo 17.8Mb deletion of 4q34.1→qter including HAND2, SORBS2 and DUX4. Associated with low pregnancy associated plasma protein-A (PAPP-A) and low placental growth factor (PlGF) in the first-trimester maternal serum screening, congenital heart defect (CHD) on fetal ultrasound and a false negative non-invasive prenatal testing (NIPT) result. No pathogenic variants listed in Clinvar apart from p.(Glu67*) - see previously reviewed PMID:30217752. Insufficient additional evidence to change gene rating from Amber. |
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