Pontocerebellar Hypoplasia Type 2 and Type 4
Research Genetic test
Help
offered by
GTR Test Accession: Help GTR000325616.5
INHERITED DISEASEDYSMORPHOLOGYNERVOUS SYSTEM ... View more
Last updated in GTR: 2021-01-22
Last annual review date for the lab: 2022-01-24 Past due LinkOut
At a Glance
Pontocerebellar hypoplasia type 2
Genes (5): Help
SEPSECS (4p15.2), TSEN15 (1q25.3), TSEN2 (3p25.2), TSEN54 (17q25.1), VPS53 (17p13.3)
The Gleeson lab is seeking patients in order to identify …
Currently open
Not provided
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Study Description
Test purpose: Help
Contribute to generalizable knowledge
Description: Help
The Gleeson lab is seeking patients in order to identify new genes responsible for Pontocerebellar Hypoplasia using a combination of approaches. We carry out research to further understand the functional role of these genes during development. Please use the above link to our website for a detailed description.
View citations (1)
  • Millen KJ, Gleeson JG. Cerebellar development and disease. Curr Opin Neurobiol. 2008;18(1):12-9. doi:10.1016/j.conb.2008.05.010. Epub 2008 May 29. PMID: 18513948.
Offered by: Help
Person responsible for the study: Help
Joseph Gleeson, MD, Lab Director
Study contact: Help
Joseph Gleeson, MD, Lab Director
Research contact policy: Help
Laboratory welcomes contact from patients/families interested in participating in a research study for this condition. Referrals from clinicians are also welcomed.
Recommended fields not provided:
Participation
Recruitment status: Help
Currently open
Consent form: Help
Not provided
Recommended fields not provided:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 5
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Technical Information
Recommended fields not provided:
Additional Information

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