Clefting
Gene: TP63
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3; EEC3
Publications
Comment on phenotypes: Added more phenotype terms for disorder from OMIM update and from expert reviewer.Created: 20 Jan 2017, 5:29 p.m.
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
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
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 reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
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
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
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
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
Mode of inheritance for TP63 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
TP63 was added to Cleftingpanel. Source: UKGTN
TP63 was added to Cleftingpanel. Source: Illumina TruGenome Clinical Sequencing Services
TP63 was added to Cleftingpanel. Sources: Radboud University Medical Center, Nijmegen
TP63 was created by oniblock