| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Congenital Heart Defect v0.244 | GLI3 | Zornitza Stark Marked gene: GLI3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.244 | GLI3 | Zornitza Stark Gene: gli3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.244 | GLI3 | Zornitza Stark Phenotypes for gene: GLI3 were changed from ASD, VSD, AVSD, aortic arch anomaly, PDA to Pallister-Hall syndrome, MIM# 146510; ASD, VSD, AVSD, aortic arch anomaly, PDA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.243 | GLI3 | Zornitza Stark Mode of pathogenicity for gene: GLI3 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.242 | GLI3 | Zornitza Stark Classified gene: GLI3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.242 | GLI3 | Zornitza Stark Gene: gli3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.241 | GLI3 | Zornitza Stark reviewed gene: GLI3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pallister-Hall syndrome, MIM# 146510; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.239 | GLI3 |
Chloe Stutterd gene: GLI3 was added gene: GLI3 was added to Congenital Heart Defect. Sources: Literature,Expert list Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GLI3 were set to 24736735; 7211952 Phenotypes for gene: GLI3 were set to ASD, VSD, AVSD, aortic arch anomaly, PDA Mode of pathogenicity for gene: GLI3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: GLI3 was set to GREEN gene: GLI3 was marked as current diagnostic Added comment: Syndromic CHD associated with the Pallister-Hall syndrome (PHS) phenotype which is caused by truncating mutations in the middle third of the gene that produce a truncated functional repressor protein. OMIM #146510 (Pallister-Hall syndrome; PHS) phenotype includes ventricular septal defect, aortic coarctation and patent ductus arteriosus based on original clinical description of syndrome in 1980 in patients without molecular confirmation of diagnosis (PubMed 7211952) PMID 24736735 (2015): French cohort of 76 individuals from 55 families carrying a GLI3 molecular defect. CHD identified in 5/21 unrelated patients with PHS (septal defects, aortic arch anomaly). Sources: Literature, Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||