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Severe Paediatric Disorders

Gene: GLI3

Green List (high evidence)

GLI3 (GLI family zinc finger 3)
EnsemblGeneIds (GRCh38): ENSG00000106571
EnsemblGeneIds (GRCh37): ENSG00000106571
OMIM: 165240, Gene2Phenotype
GLI3 is in 26 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: GLI3; Recommended initial gene rating: Green List (high evidence); Phenotypes: Greig cephalopolysyndactyly syndrome, 175700 (3) | Pallister-Hall syndrome, 146510 (3) | Polydactyly, postaxial, types A1 and B, 174200 (3) | Polydactyly, preaxial, type IV, 174700 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:19 p.m. | Last Modified: 20 Feb 2020, 5:19 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Pallister-Hall syndrome, 146510
  • Greig cephalopolysyndactyly syndrome, 175700
  • Polydactyly, preaxial, type IV, 174700
  • Polydactyly, postaxial, types A1 and B, 174200
OMIM
165240
Clinvar variants
Variants in GLI3
Penetrance
None
Publications
Panels with this gene