IUGR and IGF abnormalities
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
2 reviews
Peter Clayton (University of Manchester)
Philip Murray (University of Manchester)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Pallister-Hall syndrome
- OMIM
- 165240
- Clinvar variants
- Variants in GLI3
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Osteogenesis imperfecta
- Intellectual disability
- Hereditary ataxia with onset in adulthood
- IUGR and IGF abnormalities
- Unexplained young onset end-stage renal disease - additional genes
- Neurological ciliopathies
- Monogenic hearing loss
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Pituitary hormone deficiency
- Limb disorders
- Rare multisystem ciliopathy disorders
- Fetal anomalies
- VACTERL-like phenotypes
- Non-syndromic familial congenital anorectal malformations
- CAKUT
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Skeletal ciliopathies
- Early onset or syndromic epilepsy
- Skeletal dysplasia
- Clefting
- Monogenic short stature
- Hydrocephalus
History Filter Activity
25 Apr 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
25 Apr 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
25 Oct 2015, Gel status: 0
Added New Source
Philip Murray (University of Manchester)GLI3 was added to IUGR and IGF abnormalitiespanel. Sources: Literature
25 Oct 2015, Gel status: 0
Created
Philip Murray (University of Manchester)GLI3 was created by PhilMurray