CAKUT
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
Helen Stuart (University of Manchester)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pallister-Hall syndrome
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from red to amber due to review. Confirmed DD gene for Pallister-hall syndrome, preaxial polydactyly type IV and Type A, Greig cephalopolysyndactyly sydrome.Created: 29 Mar 2016, 10:58 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Pallister-Hall syndrome, OMIM:146510
- OMIM
- 165240
- Clinvar variants
- Variants in GLI3
- Penetrance
- Complete
- Panels with this gene
-
- Neurological ciliopathies
- Early onset or syndromic epilepsy
- Rare multisystem ciliopathy disorders
- VACTERL-like phenotypes
- Skeletal ciliopathies
- Non-syndromic familial congenital anorectal malformations
- Clefting
- CAKUT
- Ophthalmological ciliopathies
- Intellectual disability
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Hereditary ataxia with onset in adulthood
- Hydrocephalus
- Monogenic hearing loss
- Fetal anomalies
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Osteogenesis imperfecta
- Unexplained kidney failure in young people
- Pituitary hormone deficiency
- IUGR and IGF abnormalities
- Monogenic short stature
- Unexplained young onset end-stage renal disease - additional genes
- Limb disorders
- DDG2P
History Filter Activity
23 Apr 2024, Gel status: 3
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: GLI3 were changed from Pallister-Hall syndrome to Pallister-Hall syndrome, OMIM:146510
25 Apr 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
29 Mar 2016, Gel status: 2
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for GLI3 were set to Pallister-Hall syndrome
29 Mar 2016, Gel status: 2
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for GLI3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Mar 2016, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
14 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)GLI3 was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Expert list