TP63

tumor protein p63
OMIM: 603273, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 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 1.3098

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001
  • Premature ovarian failure 21, MIM#620311

Green TP63 in Severe Combined Immunodeficiency (absent T present B cells)


Level 2: Immunological disorders
Version 1.11

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001

    Red TP63 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.294

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001

    Green TP63 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.318

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • NHS GMS
    • Expert list
    • Emory Genetics Laboratory
    • Victorian Clinical Genetics Services
    Phenotypes
    • TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001

    Green TP63 in Ectodermal Dysplasia


    Level 2: Dermatological disorders
    Version 0.102

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001

    Green TP63 in Primary Ovarian Insufficiency_Premature Ovarian Failure

    Level 3: Gonadal and sex development disorders
    Level 2: Endocrine disorders
    Version 0.355

    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 0.81

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    • Victorian Clinical Genetics Services
    Phenotypes
    • TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001

    Green TP63 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.270

    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
    • TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001

    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 0.77

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001

    Green TP63 in Fetal anomalies


    Version 1.413

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert list
    Phenotypes
    • TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001

    Green TP63 in Infertility and Recurrent Pregnancy Loss


    Version 1.31

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Premature ovarian failure 21, MIM# 620311