Joubert syndrome and other neurological ciliopathies
Gene: GLI3EnsemblGeneIds (GRCh38): ENSG00000106571
EnsemblGeneIds (GRCh37): ENSG00000106571
OMIM: 165240, Gene2Phenotype
GLI3 is in 23 panels
1 review
Crystle Lee (Victorian Clinical Genetics Services)
Ciliopathy with some overlapping features of JS, primarily skeletal manifestation.
PMID: 24736735; In a cohort of 55 families, hypoplastic cerebellum was found in 2 patients but without the characteristic molar tooth sign. There appears to be overlapping JS features including limb and craniofacial abnormalities
Sources: Expert ReviewCreated: 18 May 2020, 2:41 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Greig cephalopolysyndactyly syndrome (MIM#175700); Pallister-Hall syndrome (MIM#146510)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Greig cephalopolysyndactyly syndrome (MIM#175700)
- Pallister-Hall syndrome (MIM#146510)
- OMIM
- 165240
- Clinvar variants
- Variants in GLI3
- Penetrance
- None
- 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 Amber List (Moderate Evidence).
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: GLI3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gli3 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Crystle Lee (Victorian Clinical Genetics Services)gene: GLI3 was added gene: GLI3 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert Review Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GLI3 were set to Greig cephalopolysyndactyly syndrome (MIM#175700); Pallister-Hall syndrome (MIM#146510) Review for gene: GLI3 was set to AMBER