This Panel is marked as Deleted
Kidneyome_SuperPanel_KidGen_VCGS
Gene: GLI3
GLI3 (GLI family zinc finger 3)
EnsemblGeneIds (GRCh38): ENSG00000106571
EnsemblGeneIds (GRCh37): ENSG00000106571
OMIM: 165240, Gene2Phenotype
GLI3 is in 25 panels
EnsemblGeneIds (GRCh38): ENSG00000106571
EnsemblGeneIds (GRCh37): ENSG00000106571
OMIM: 165240, Gene2Phenotype
GLI3 is in 25 panels
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Details
- Mode of Inheritance
- Unknown
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 165240
- Clinvar variants
- Variants in GLI3
- Penetrance
- None
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Osteogenesis imperfecta
- Unexplained kidney failure in young people
- DDG2P
- Rare multisystem ciliopathy disorders
- IUGR and IGF abnormalities
- Unexplained young onset end-stage renal disease - additional genes
- Skeletal dysplasia
- Neurological ciliopathies
- Limb disorders
- Early onset or syndromic epilepsy
- Fetal anomalies
- VACTERL-like phenotypes
- Skeletal ciliopathies
- Non-syndromic familial congenital anorectal malformations
- Clefting
- CAKUT
- Ophthalmological ciliopathies
- Monogenic short stature
- Hereditary ataxia with onset in adulthood
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Intellectual disability
- Hydrocephalus
- Pituitary hormone deficiency
- Monogenic hearing loss
History Filter Activity
23 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: GLI3 was added gene: GLI3 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GLI3 was set to Unknown