Clefting
Gene: TP63EnsemblGeneIds (GRCh38): ENSG00000073282
EnsemblGeneIds (GRCh37): ENSG00000073282
OMIM: 603273, Gene2Phenotype
TP63 is in 15 panels
3 reviews
Helen Brittain (Genomics England Curator)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3; EEC3
Publications
Louise Daugherty (Genomics England Curator)
Comment on phenotypes: Added more phenotype terms for disorder from OMIM update and from expert reviewer.Created: 20 Jan 2017, 5:29 p.m.
Usha Kini (Oxford Centre for Genomic Medicine)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
EEC syndrome (Ectodermal dysplasia, ectrodactyly and clefting); AEC (Ankyloblepharon, ectodermal defects, clefting) or Rapp Hodgkins syndrome, Hay Wells syndrome
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292
- Hay-Wells syndrome, OMIM:106260
- Limb-mammary syndrome, OMIM:603543
- Orofacial cleft 8, OMIM:618149
- Rapp-Hodgkin syndrome, OMIM:129400
- Split-hand/foot malformation 4, OMIM:605289
- OMIM
- 603273
- Clinvar variants
- Variants in TP63
- Penetrance
- Complete
- Panels with this gene
-
- VACTERL-like phenotypes
- Non-syndromic familial congenital anorectal malformations
- Ectodermal dysplasia
- Intellectual disability
- DDG2P
- Skeletal dysplasia
- Primary ovarian insufficiency
- Clefting
- Epidermolysis bullosa and congenital skin fragility
- Amelogenesis imperfecta
- Ectodermal dysplasia without a known gene mutation
- Mosaic skin disorders - deep sequencing
- Peeling skin syndrome
- Limb disorders
- Fetal anomalies
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: TP63 were changed from Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3, 604292; Orofacial cleft 8, EEC SYNDROME 3, Rapp Hodgkins syndrome, 129400; EEC syndrome (Ectrodactyly, Ectodermal dysplasia and Clefting); AEC (Ankyloblepharon filiforme adnatum, Ectodermal defects and Clefting), Hay Wells syndrome 106260; Limb-mammary syndrome, 603543; ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3; EEC3; Cleft lip to Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292; Hay-Wells syndrome, OMIM:106260; Limb-mammary syndrome, OMIM:603543; Orofacial cleft 8, OMIM:618149; Rapp-Hodgkin syndrome, OMIM:129400; Split-hand/foot malformation 4, OMIM:605289
Added New Source, Set penetrance
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to TP63. Panel: Clefting Phenotypes for gene TP63 were set to Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3, 604292, Orofacial cleft 8, EEC SYNDROME 3, Rapp Hodgkins syndrome, 129400, EEC syndrome (Ectrodactyly, Ectodermal dysplasia and Clefting), AEC (Ankyloblepharon filiforme adnatum, Ectodermal defects and Clefting), Hay Wells syndrome 106260, Limb-mammary syndrome, 603543, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, EEC3, Cleft lip
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)TP63 was added to Cleftingpanel. Source: Expert Review Green Model of inheritance for gene TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for TP63 were set to Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3, 604292; Orofacial cleft 8, EEC SYNDROME 3, Rapp Hodgkins syndrome, 129400; EEC syndrome (Ectrodactyly, Ectodermal dysplasia and Clefting); AEC (Ankyloblepharon filiforme adnatum, Ectodermal defects and Clefting), Hay Wells syndrome 106260; Limb-mammary syndrome, 603543
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for TP63 were set to Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3, 604292; Orofacial cleft 8, EEC SYNDROME 3, Rapp Hodgkins syndrome, 129400; EEC syndrome (Ectrodactyly, Ectodermal dysplasia and Cleating); AEC (Ankyloblepharon filiforme adnatum, Ectodermal defects and Cleating), Hay Wells syndrome 106260; Limb-mammary syndrome, 603543
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for TP63 were set to Ectrodactyly,ectodermal dysplasia,cleft lip/palate syndrome 3, 604292; Orofacial cleft 8, EEC SYNDROME 3, Rapp Hodgkins syndrome 129400; EEC syndrome (Ectrodactyly, Ectodermal dysplasia and Cleating); AEC (Ankyloblepharon filiforme adnatum, Ectodermal defects and Cleating), Hay Wells syndrome 106260;Limb-mammary syndrome 603543
Set Mode of Inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for TP63 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
Olivia Niblock (Genomics England Curator)TP63 was added to Cleftingpanel. Source: UKGTN
Added New Source
Olivia Niblock (Genomics England Curator)TP63 was added to Cleftingpanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Olivia Niblock (Genomics England Curator)TP63 was added to Cleftingpanel. Sources: Radboud University Medical Center, Nijmegen
Created
Olivia Niblock (Genomics England Curator)TP63 was created by oniblock