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Severe Paediatric Disorders

Gene: TP63

Green List (high evidence)

TP63 (tumor protein p63)
EnsemblGeneIds (GRCh38): ENSG00000073282
EnsemblGeneIds (GRCh37): ENSG00000073282
OMIM: 603273, Gene2Phenotype
TP63 is in 15 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: TP63; Recommended initial gene rating: Green List (high evidence); Phenotypes: ADULT syndrome, 103285 (3) | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292 (3) | Hay-Wells syndrome, 106260 (3) | Limb-mammary syndrome, 603543 (3) | Orofacial cleft 8, 618149 (3) | Rapp-Hodgkin syndrome, 129400 (3) | Split-hand/foot malformation 4, 605289 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | ND | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:26 p.m. | Last Modified: 20 Feb 2020, 5:26 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
  • Orofacial cleft 8, 618149
  • Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292
  • Hay-Wells syndrome, 106260
  • Split-hand/foot malformation 4, 605289
  • ADULT syndrome, 103285
  • Limb-mammary syndrome, 603543
  • Rapp-Hodgkin syndrome, 129400
OMIM
603273
Clinvar variants
Variants in TP63
Penetrance
None
Publications
Panels with this gene