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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 14 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

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene TP63 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added 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 for gene: TP63

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added 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 for gene: TP63

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added 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 for gene: TP63

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Rapp-Hodgkin syndrome, 129400; Orofacial cleft 8, 618149; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292; Limb-mammary syndrome, 603543; Hay-Wells syndrome, 106260; ADULT syndrome, 103285; Split-hand/foot malformation 4, 605289 for gene: TP63

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene TP63 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added 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 for gene: TP63

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to TP63.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to TP63. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: TP63 was added gene: TP63 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: TP63 was set to