TP63

tumor protein p63
OMIM: 603273, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
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 4.16
Latest signed off version: v4.0 (22 Mar 2023)

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 3.28
    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 1.27

    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 2.41
    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 4.52
    Latest signed off version: v4.0 (22 Mar 2023)

    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 1.8

    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 3.136
    Latest signed off version: v3.0 (22 Mar 2023)

    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 3.79
    Latest signed off version: v3.1 (22 Mar 2023)

    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 4.106
    Latest signed off version: v4.0 (22 Mar 2023)

    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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.476
    Latest signed off version: v5.0 (22 Mar 2023)

    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 1.182

    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