TP63

tumor protein p63
OMIM: 603273, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Red TP63 in Peeling skin syndrome Level 3: Skin fragility disorders Level 2: Dermatological disorders Version 1.4	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Other Phenotypes Hay-Wells syndrome, 106260 Red, cracking, peeling skin at birth
Red TP63 in VACTERL-like phenotypes Level 3: Limb disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.34	review	Not set	Sources Emory Genetics Laboratory
Red TP63 in Epidermolysis bullosa and congenital skin fragility Version 2.7 Latest signed off version: v2.2 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Hay-Wells syndrome, 106260 Red, cracking, peeling skin at birth
Green TP63 in Limb disorders Version 5.1 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Expert Review Green London South East RGC GSTT Viapath Phenotypes ADULT syndrome, OMIM:103285 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292 Limb-mammary syndrome, OMIM:603543 Split-hand/foot malformation 4, OMIM:605289
Green TP63 in Ectodermal dysplasia Version 3.29 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green 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 Rapp-Hodgkin syndrome, OMIM:129400 Split-hand/foot malformation 4, OMIM:605289
Green TP63 in Ectodermal dysplasia without a known gene mutation Level 3: Ectodermal dysplasias Level 2: Dermatological disorders Version 1.28	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Eligibility statement prior genetic testing 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 Rapp-Hodgkin syndrome, OMIM:129400 Split-hand/foot malformation 4, OMIM:605289
Amber TP63 in Mosaic skin disorders - deep sequencing Version 2.47 Latest signed off version: v2.0 (30 Nov 2022)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Split hand foot malformation with whorl-like pigmentary pattern Tags watchlist somatic
Green TP63 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 5.1 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Expert list Phenotypes ADULT syndrome, OMIM:103285 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292 Limb-mammary syndrome, OMIM:603543 Split-hand/foot malformation 4, OMIM:605289
Red TP63 in Non-syndromic familial congenital anorectal malformations Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.9	review	Not set	Sources Literature
Red TP63 in Amelogenesis imperfecta Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 3.3 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Split hand-split foot-ectodermal dysplasia and amelogenesis imperfecta
Green TP63 in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE DD-Gene2Phenotype Expert Review Green 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 DDG2P Version 4.1 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE 129400 NON-SYNDROMIC OROFACIAL CLEFT TYPE 8 129400 SPLIT-HAND/FOOT MALFORMATION TYPE 4 605289 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE 106260 ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3 604292 LIMB-MAMMARY SYNDROME 603543 ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME 103285
Green TP63 in Clefting Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 5.1 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	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
Red TP63 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.1 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene 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 Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Orofacial cleft 8, 618149 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292 Hay-Wells syndrome, 106260 Split-hand/foot malformation 4, 605289 ADULT syndrome, 103285 Limb-mammary syndrome, 603543 Rapp-Hodgkin syndrome, 129400