Ectodermal dysplasia without a known gene mutation

Gene: TP63

Green List (high evidence)

TP63 (tumor protein p63)
EnsemblGeneIds (GRCh38): ENSG00000073282
EnsemblGeneIds (GRCh37): ENSG00000073282
OMIM: 603273, Gene2Phenotype
TP63 is in 14 panels

2 reviews

John McGrath (King's College London)

Green List (high evidence)

Phenotypes
Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome); Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome (AEC syndrome); Cleft lip/palate-ectodermal dysplasia syndrome; EEC Syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (EEC syndrome); Limb-mammary syndrome; Rapp-Hodgkin syndrome

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Source: OMIM and Gene2Phenotype.
Created: 25 Jul 2016, 8:51 a.m.
Comment on list classification: Promoted from amber to green due to expert review. It is a confirmed DD gene for ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE, ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3, ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE. Multiple cases reported in OMIM.
Created: 25 Jul 2016, 8:51 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292
  • Split-hand/foot malformation 4, 605289
  • Hay-Wells syndrome, 106260
  • ADULT syndrome, 103285
  • Limb-mammary syndrome, 603543
  • Rapp-Hodgkin syndrome, 129400
  • Orofacial cleft 8, 129400
  • Orofac
  • Adult Syndrome
  • Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate
  • Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/palate Syndrome 3
  • Limb-Mammary Syndrome
  • Rapp-Hodgkin Syndrome
  • Split-Hand/foot Malformation 4
  • ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE
  • ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3
  • ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE
OMIM
603273
Clinvar variants
Variants in TP63
Penetrance
Complete
Panels with this gene

History Filter Activity

10 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 10th August 2016

25 Jul 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for TP63 were set to Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292; Split-hand/foot malformation 4, 605289; Hay-Wells syndrome, 106260; ADULT syndrome, 103285; Limb-mammary syndrome, 603543; Rapp-Hodgkin syndrome, 129400; Orofacial cleft 8, 129400; Orofac; Adult Syndrome; Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate; Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/palate Syndrome 3; Limb-Mammary Syndrome; Rapp-Hodgkin Syndrome; Split-Hand/foot Malformation 4; ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE; ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3; ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE

25 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 Jul 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for TP63 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

25 Jul 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for TP63 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

25 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

8 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

TP63 was added to Ectodermal dysplasia without a known gene mutationpanel. Source: UKGTN

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TP63 was added to Ectodermal dysplasia without a known gene mutationpanel. Source: Radboud University Medical Center, Nijmegen

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TP63 was added to Ectodermal dysplasia without a known gene mutationpanel. Source: Radboud University Medical Center, Nijmegen

8 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TP63 was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: Eligibility statement prior genetic testing