GTR Test Accession:
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GTR000242587.7
Last updated in GTR: 2019-07-03
View version history
GTR000242587.7, last updated: 2019-07-03
GTR000242587.6, last updated: 2019-02-11
GTR000242587.5, last updated: 2018-07-05
GTR000242587.4, last updated: 2017-05-15
GTR000242587.3, last updated: 2015-05-22
GTR000242587.2, last updated: 2013-07-31
GTR000242587.1, last updated: 2013-07-31
Last annual review date for the lab: 2022-07-12
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At a Glance
Conditions (9):
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Cataracts, Autosomal Dominant; Cataract 13 with adult I phenotype; Cataract 26 multiple types; ...
Genes (3):
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CRYBB1 (22q12.1), FOXE3 (1p33), GJA8 (1q21.2)
Study description:
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Screening of genes known to be involved in eye development …
Recruitment status:
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Currently open
Individuals with eye conditions and their family members are eligible.
Methods (2):
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Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis; Next-Generation (NGS)/Massively parallel sequencing (MPS)
Study Description
Name:
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Genetic Studies of Human Developmental Disorders
Test purpose:
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Contribute to generalizable knowledge
Description:
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Screening of genes known to be involved in eye development will be performed by exome/genome and/or Sanger sequencing. If no mutation is found, data will be reviewed for novel gene identification and we will continue to screen samples for mutations in other genes characterized as research progresses. Referring providers will …
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View citations (3)
- Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia. Brémond-Gignac D, et al. Mol Vis. 2010;16:1705-11. Epub 2010 Aug 22. PMID: 20806047.
- Reis LM, Tyler RC, Muheisen S, Raggio V, Salviati L, Han DP, Costakos D, Yonath H, Hall S, Power P, Semina EV. Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes. Hum Genet. 2013;132(7):761-70. doi:10.1007/s00439-013-1289-0. Epub 2013 Mar 19. PMID: 23508780.
- Reis LM, Semina EV. Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes. Hum Genet. 2019;138(8-9):847-863. doi:10.1007/s00439-018-1932-x. Epub 2018 Sep 05. PMID: 30187164.
Study type:
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Observational study
Offered by:
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Person responsible for the study:
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Elena Semina, PhD, Lab Director
Study contact:
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Linda Reis, MS, CGC, Genetic Counselor
Research contact policy:
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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:
Protocol number
Participation
Recruitment status:
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Currently open
Eligibility criteria:
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Individuals with eye conditions and their family members are eligible.
Consent form:
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Not provided
Conditions
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Total conditions: 9
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 3
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 2
Method Category
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Test method
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Instrument *
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Sequence analysis 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
Reviews:
Clinical resources:
Consumer resources:
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