TP63-Related Disorders via the TP63 Gene

GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000507799.12
Last updated: 2023-06-19
Test version history
- 507799.12, last updated: 2023-06-19
- 507799.11, last updated: 2020-09-11
- 507799.10, last updated: 2020-09-09
- 507799.9, last updated: 2018-04-24
- 507799.8, last updated: 2018-03-20
- 507799.7, last updated: 2017-12-04
- 507799.6, last updated: 2016-03-30
- 507799.5, last updated: 2016-03-08
- 507799.4, last updated: 2016-01-28
- 507799.3, last updated: 2015-08-14
- 507799.2, last updated: 2015-02-27
- 507799.1, last updated: 2014-06-06

Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for ADULT syndrome
Offered by PreventionGenetics

Indication

This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Screening, Mutation Confirmation, Diagnosis, Pre-symptomatic, Risk Assessment

Imported from GeneReviews

The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling.

Imported from Human Phenotype Ontology (HPO)

Conjunctivitis
Ectodermal dysplasia
Eczema
Freckling
Partial congenital absence of teeth
Nail pits
Dermal atrophy
Dry skin
Absent nipple
Microdontia
Toe syndactyly
Breast hypoplasia
Cutaneous photosensitivity
Thin skin
Split foot
Hypoplastic nipples
Alopecia of scalp
Nasolacrimal duct obstruction
Wide intermamillary distance
Fair hair
Adermatoglyphia
Sparse scalp hair
Sparse axillary hair
Premature loss of permanent teeth
Split hand
Orofacial cleft
Oligodontia

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Conditions tested

Candidates for this test are patients with features consistent with above phenotypes, and family members of patients who have a known TP63 variant.

Citations

Not provided

Reviews

Clinical resources

Molecular resources

Consumer resources

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TP63-Related Disorders via the TP63 Gene

Indication

Clinical summary

Imported from GeneReviews

Clinical features