Clefting
Gene: GLI3EnsemblGeneIds (GRCh38): ENSG00000106571
EnsemblGeneIds (GRCh37): ENSG00000106571
OMIM: 165240, Gene2Phenotype
GLI3 is in 25 panels
1 review
Louise Daugherty (Genomics England Curator)
Comment on publications: Causation clear. Cleft a minor feature but is reported in more than three unrelated casesCreated: 30 May 2017, 3:41 p.m.
Comment on phenotypes: inclusion only of those phenotypes that features cleftingCreated: 30 May 2017, 3:26 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Pallister-Hall syndrome, 146510
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
- Phenotypes
-
- Pallister-Hall syndrome, OMIM:146510
- OMIM
- 165240
- Clinvar variants
- Variants in GLI3
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- DDG2P
- Monogenic short stature
- Fetal anomalies
- Skeletal ciliopathies
- VACTERL-like phenotypes
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Monogenic hearing loss
- Hereditary ataxia, adult onset
- Non-syndromic familial congenital anorectal malformations
- CAKUT
- Neurological ciliopathies
- Clefting
- Pituitary hormone deficiency
- Osteogenesis imperfecta
- Ophthalmological ciliopathies
- Limb disorders
- Hydrocephalus
- Unexplained young onset end-stage renal disease - additional genes
- Intellectual disability
- Unexplained kidney failure in young people
- Skeletal dysplasia
- Early onset or syndromic epilepsy
- Rare multisystem ciliopathy disorders
- IUGR and IGF abnormalities
- Dystonia, chorea or related movement disorder, childhood onset
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: GLI3 were changed from Pallister-Hall syndrome, 146510 to Pallister-Hall syndrome, OMIM:146510
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
Set publications
Louise Daugherty (Genomics England Curator)Publications for GLI3 were set to 7211952; 1605268;15739154; 24736735;20301638
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for GLI3 were set to Pallister-Hall syndrome, 146510
Added New Source
Louise Daugherty (Genomics England Curator)GLI3 was added to Cleftingpanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Created
Louise Daugherty (Genomics England Curator)GLI3 was created by LouiseD