Congenital Heart Defect
Gene: GLI3EnsemblGeneIds (GRCh38): ENSG00000106571
EnsemblGeneIds (GRCh37): ENSG00000106571
OMIM: 165240, Gene2Phenotype
GLI3 is in 23 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pallister-Hall syndrome, MIM# 146510
Chloe Stutterd (Victorian Clinical Genetics Services)
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 listCreated: 23 Jul 2022, 3:26 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
ASD, VSD, AVSD, aortic arch anomaly, PDA
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Pallister-Hall syndrome, MIM# 146510
- ASD, VSD, AVSD, aortic arch anomaly, PDA
- OMIM
- 165240
- Clinvar variants
- Variants in GLI3
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
-
- Callosome
- Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy
- Growth failure
- Joubert syndrome and other neurological ciliopathies
- Overgrowth
- Ciliopathies
- Polydactyly
- Clefting disorders
- BabyScreen+ newborn screening
- Pituitary hormone deficiency
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
- Hydrocephalus_Ventriculomegaly
- Macrocephaly_Megalencephaly
- Craniosynostosis
- Holoprosencephaly and septo-optic dysplasia
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Skeletal Dysplasia_Fetal
- Congenital Heart Defect
- Mendeliome
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gli3 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)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
Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gli3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Chloe Stutterd (Victorian Clinical Genetics Services)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