Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy
Gene: GLI3EnsemblGeneIds (GRCh38): ENSG00000106571
EnsemblGeneIds (GRCh37): ENSG00000106571
OMIM: 165240, Gene2Phenotype
GLI3 is in 23 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Not a ciliopathy, but relatively common condition with phenotypic overlap.
Sources: Expert listCreated: 24 May 2020, 10:55 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Greig cephalopolysyndactyly syndrome, MIM# 175700; Polydactyly
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Greig cephalopolysyndactyly syndrome, MIM# 175700
- Polydactyly
- 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 Green List (High Evidence).
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 Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GLI3 was added gene: GLI3 was added to Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy. Sources: Expert list Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GLI3 were set to Greig cephalopolysyndactyly syndrome, MIM# 175700; Polydactyly Review for gene: GLI3 was set to GREEN