TP63

tumor protein p63
OMIM: 603273, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green TP63 in Desmosomal disorders


Level 2: Dermatological disorders
Version 1.0

0 reviews Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services

Green TP63 in Severe Combined Immunodeficiency


Level 2: Immunological disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
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 1.0

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

Green TP63 in Ectodermal Dysplasia


Level 2: Dermatological disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
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 1.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
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 Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001

Red TP63 in Amelogenesis imperfecta


Level 2: Skeletal disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Genomics England PanelApp
  • Expert Review Red
Phenotypes
  • Split-hand/foot malformation 4, MIM# 605289

Green TP63 in Hand and foot malformations


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

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

Green TP63 in Fetal anomalies


Version 2.0

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