Rare multisystem ciliopathy disorders
Gene: GLI3EnsemblGeneIds (GRCh38): ENSG00000106571
EnsemblGeneIds (GRCh37): ENSG00000106571
OMIM: 165240, Gene2Phenotype
GLI3 is in 25 panels
1 review
Alice Gardham (Genomics England)
Comment on list classification: Phenotypic overlap with acrocallosalCreated: 25 Jan 2017, 1 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- UKGTN
- Expert list
- Phenotypes
-
- Greig cephalopolysyndactyly syndrome, OMIM:175700
- Pallister-Hall syndrome, OMIM:146510
- OMIM
- 165240
- Clinvar variants
- Variants in GLI3
- Penetrance
- Complete
- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: GLI3 were changed from Joubert Syndrome and Senior-Loken Syndrome 24 gene panel to Greig cephalopolysyndactyly syndrome, OMIM:175700; Pallister-Hall syndrome, OMIM:146510
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Upload gene information
Ellen McDonagh (Genomics England Curator)GLI3 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene GLI3 were set to Joubert Syndrome and Senior-Loken Syndrome 24 gene panel
Created
Ellen McDonagh (Genomics England Curator)GLI3 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)GLI3 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list