TP63

tumor protein p63
OMIM: 603273, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green TP63 in Desmosomal disorders Level 2: Dermatological disorders Version 0.33	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green TP63 in Mendeliome Version 1.2374	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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 Orofacial cleft 8, OMIM #618149 Rapp-Hodgkin syndrome, OMIM #129400 Split-hand/foot malformation 4, OMIM #605289
Green TP63 in Severe Combined Immunodeficiency (absent T present B cells) Level 2: Immunological disorders Version 1.9 Component of the following Super Panels: Immunological disorders_SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, MIM# 604292 lymphopaenia
Red TP63 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes 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 Orofacial cleft 8, OMIM #618149 Rapp-Hodgkin syndrome, OMIM #129400 Split-hand/foot malformation 4, OMIM #605289
Green TP63 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.305	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Expert Review Green NHS GMS Expert list Emory Genetics Laboratory Victorian Clinical Genetics Services Phenotypes Hay-Wells syndrome 106260 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 604292 Limb-mammary syndrome 603543 Rapp-Hodgkin syndrome 129400 Orofacial cleft 8 129400 ULT syndrome 103285 Split-hand/foot malformation 4 605289
Green TP63 in Ectodermal Dysplasia Level 2: Dermatological disorders Version 0.89	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Rapp-Hodgkin syndrome, Orofacial cleft, ADULT syndrome, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate, Split-hand/foot malformation, Limb-mammary syndrome
Green TP63 in Primary Ovarian Insufficiency_Premature Ovarian Failure Level 3: Gonadal and sex development disorders Level 2: Endocrine disorders Version 0.340	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Premature ovarian failure-21, MIM#620311 Limb-mammary syndrome MIM#603543 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 MIM#604292 Tags SV/CNV
Green TP63 in Hair disorders Level 2: Dermatological disorders Version 0.71	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Rapp-Hodgkin syndrome, Orofacial cleft, ADULT syndrome, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate, Split-hand/foot malformation, Limb-mammary syndrome
Green TP63 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.260	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Orofacial cleft 8, EEC SYNDROME 3, Rapp Hodgkins syndrome, 129400 EEC3 Limb-mammary syndrome, 603543 AEC (Ankyloblepharon filiforme adnatum, Ectodermal defects and Clefting), Hay Wells syndrome 106260 EEC syndrome (Ectrodactyly, Ectodermal dysplasia and Clefting) ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 Cleft lip Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3, 604292
Red TP63 in Amelogenesis imperfecta Level 2: Skeletal disorders Version 1.11	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Genomics England PanelApp Phenotypes Split-hand/foot malformation 4, MIM# 605289
Green TP63 in Hand and foot malformations Level 2: Dysmorphic and congenital abnormality syndromes Version 0.76 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Hay-Wells syndrome 106260 Rapp-Hodgkin syndrome 129400 Limb-mammary syndrome 603543 Split-hand/foot malformation 4 605289 Orofacial cleft 8 129400 ULT syndrome 103285 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 604292
Green TP63 in Fetal anomalies Version 1.314	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Expert list Phenotypes 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 Orofacial cleft 8, OMIM #618149 Rapp-Hodgkin syndrome, OMIM #129400 Split-hand/foot malformation 4, OMIM #605289