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Severe Paediatric Disorders

Gene: PAX6

Green List (high evidence)

PAX6 (paired box 6)
EnsemblGeneIds (GRCh38): ENSG00000007372
EnsemblGeneIds (GRCh37): ENSG00000007372
OMIM: 607108, Gene2Phenotype
PAX6 is in 23 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: PAX6; Recommended initial gene rating: Green List (high evidence); Phenotypes: Aniridia, 106210 (3) | Anterior segment dysgenesis 5, multiple subtypes, 604229 (3) | Cataract with late-onset corneal dystrophy, 106210 (3) | ?Coloboma of optic nerve, 120430 (3) | ?Coloboma, ocular, 120200 (3) | Foveal hypoplasia 1, 136520 (3) | Keratitis, 148190 (3) | ?Morning glory disc anomaly, 120430 (3) | Optic nerve hypoplasia, 165550 (3); Mode of inheritance: Autosomal dominant | ND | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:23 p.m. | Last Modified: 20 Feb 2020, 5:23 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Anterior segment dysgenesis 5, multiple subtypes, 604229
  • Keratitis, 148190
  • Cataract with late-onset corneal dystrophy, 106210
  • ?Coloboma, ocular, 120200
  • Optic nerve hypoplasia, 165550
  • ?Coloboma of optic nerve, 120430
  • Foveal hypoplasia 1, 136520
  • Aniridia, 106210
  • ?Morning glory disc anomaly, 120430
OMIM
607108
Clinvar variants
Variants in PAX6
Penetrance
None
Publications
Panels with this gene