Ectodermal dysplasia without a known gene mutation
Gene: TP63
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
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.
Phenotypes for gene: TP63 were changed from 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 to ADULT syndrome, OMIM:103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292; Hay-Wells syndrome, OMIM:106260; Limb-mammary syndrome, OMIM:603543; Rapp-Hodgkin syndrome, OMIM:129400; Split-hand/foot malformation 4, OMIM:605289
Promoted to version 1 10th August 2016
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
This gene has been classified as Green List (High Evidence).
Mode of inheritance for TP63 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mode of inheritance for TP63 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Green List (High Evidence).
TP63 was added to Ectodermal dysplasia without a known gene mutationpanel. Source: UKGTN
TP63 was added to Ectodermal dysplasia without a known gene mutationpanel. Source: Radboud University Medical Center, Nijmegen
TP63 was added to Ectodermal dysplasia without a known gene mutationpanel. Source: Radboud University Medical Center, Nijmegen
TP63 was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: Eligibility statement prior genetic testing