Polydactyly
Gene: GLI3EnsemblGeneIds (GRCh38): ENSG00000106571
EnsemblGeneIds (GRCh37): ENSG00000106571
OMIM: 165240, Gene2Phenotype
GLI3 is in 23 panels
2 reviews
Arina Puzriakova (Genomics England)
PMID: 32591344 (2021) - Variants that likely produce haploinsufficiency are associated with anteriorly orientated (preaxial) polydactyly. Posterior (postaxial) phenotypes are associated with truncating variants in the activator domain, which is also related to a higher risk of corpus callosum agenesis.Created: 1 Jun 2021, 10:21 a.m. | Last Modified: 1 Jun 2021, 10:21 a.m.
Panel Version: 0.192
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Greig cephalopolysyndactyly syndrome, MIM# 175700; Pallister-Hall syndrome, MIM# 146510; Polydactyly, postaxial, types A1 and B, MIM# 174200; Polydactyly, preaxial, type IV, MIM# 174700
Publications
Anand Vasudevan (Royal Women's Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Greig cephalopolysyndactyly syndrome, MIM# 175700
- Pallister-Hall syndrome, MIM# 146510
- Polydactyly, postaxial, types A1 and B, MIM# 174200
- Polydactyly, preaxial, type IV, MIM# 174700
- OMIM
- 165240
- Clinvar variants
- Variants in GLI3
- Penetrance
- None
- Publications
- 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 to Greig cephalopolysyndactyly syndrome, MIM# 175700; Pallister-Hall syndrome, MIM# 146510; Polydactyly, postaxial, types A1 and B, MIM# 174200; Polydactyly, preaxial, type IV, MIM# 174700
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: GLI3 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: GLI3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GLI3 was added gene: GLI3 was added to Polydactyly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GLI3 was set to Unknown