| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Congenital Heart Defect v1.0 | HAND2 | Gene migrated from ENSG00000164107 to ENSG00000164107 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.297 | HAND2 | Zornitza Stark Phenotypes for gene: HAND2 were changed from Congenital heart disease to Congenital heart disease, MONDO:0005453, HAND2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.296 | HAND2 | Zornitza Stark Publications for gene: HAND2 were set to 26865696; 32134193; 26676105; 30217752; 20819618 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.295 | HAND2 | Chris McEvoy reviewed gene: HAND2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 36427970; Phenotypes: Congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.187 | HAND2 | Zornitza Stark Marked gene: HAND2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.187 | HAND2 | Zornitza Stark Gene: hand2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.187 | HAND2 | Zornitza Stark Phenotypes for gene: HAND2 were changed from to Congenital heart disease | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.186 | HAND2 | Zornitza Stark Publications for gene: HAND2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.185 | HAND2 | Zornitza Stark Mode of inheritance for gene: HAND2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.184 | HAND2 | Zornitza Stark Classified gene: HAND2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.184 | HAND2 | Zornitza Stark Gene: hand2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.170 | HAND2 | Krithika Murali reviewed gene: HAND2: Rating: AMBER; Mode of pathogenicity: None; Publications: 26865696, 32134193, 26676105, 30217752, 20819618; Phenotypes: Congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.0 | HAND2 |
Zornitza Stark gene: HAND2 was added gene: HAND2 was added to Congenital Heart Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HAND2 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||