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Rare Skin Diseases Inquiry
Research Genetic test
Help
offered by
Glass Lab
GTR Test Accession: Help GTR000552104.2
INHERITED DISEASEDYSMORPHOLOGYMUSCULOSKELETAL ... View more
Last updated in GTR: 2023-08-13
View version history
Last annual review date for the lab: 2023-08-13 Past due LinkOut
At a Glance
Conditions (2): Help
Craniosynostosis-anal anomalies-porokeratosis syndrome; Familial dyskeratotic comedones
Analytes (1): Help
DNA
Genes (1): Help
RNU12 (22q13.2)
Study description: Help
The purpose of this study is for the researchers to …
Recruitment status: Help
Currently open
Eligibility criteria: Help
-male or female subjects up to 90 yrs old who …
Methods (3): Help
Molecular Genetics - Deletion/duplication analysis: SNP Detection; ...
Study Description
Name: Help
Finding the Causes of Rare Skin Diseases
Protocol number: Help
UTSW IRB -- STU 092012-063
Test purpose: Help
Contribute to generalizable knowledge
Description: Help
The purpose of this study is for the researchers to identify genes that cause interesting, rare skin conditions. The hypothesis is that there are uncommon skin disorders that are due to genetic defects (ie. genodermatoses). While the genetic causes of many genodermatoses have already been identified, there are new conditions … View more
View citations (1)
  • Xing C, Kanchwala M, Rios JJ, Hyatt T, Wang RC, Tran A, Dougherty I, Tovar-Garza A, Purnadi C, Kumar MG, Berk D, Shinawi M, Irvine AD, Toledo-Bahena M, Agim NG, Glass DA. Biallelic variants in RNU12 cause CDAGS syndrome. Hum Mutat. 2021;42(8):1042-1052. doi:10.1002/humu.24239. Epub 2021 Jun 15. PMID: 34085356.
Study type: Help
Not applicable
Offered by: Help
Glass Lab
Person responsible for the study: Help
Donald Glass, PhD, MD, ABD, FAAD, Lab Director
Study contact: Help
Donald Glass, PhD, MD, ABD, FAAD, Lab Director
Participation
Recruitment status: Help
Currently open
Eligibility criteria: Help
-male or female subjects up to 90 yrs old who have or have had a skin disorder -first- or second-degree relatives up to 90 yrs old of an enrolled individual with a skin disorder (i.e. the proband) -subjects must speak English and/or Spanish. -subjects must be able to provide written … View more
Consent form: Help
Not provided
Conditions Help
Total conditions: 2
Condition/Phenotype Identifier
Test Targets
Analytes Help
Total analytes: 1
Analyte Associated Condition
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 3
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
SNP Detection
Linkage analysis
SNP Detection
Mutation scanning of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Technical Information
Recommended fields not provided:
Test Confirmation
Additional Information

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