INVESTIGATOR Faculty Appointment & Name Email Telephone Institutional Affiliation SPECIFICATION Disease name: OMIM Number (if available for phenotype): Disease description (Please include details on the phenotype, such as degree of intellectual disability, for each affected individual. Ideally, attach a pedigree using NSGC nomenclature, specifying who was assessed clinically and at the molecular level): Gene name: Gene (HGNC discovery project (if approved gene applicable): symbol) Category of (check one, see instructions) 1 2a 2b 3a 3b Unique Canadian population if 3a or 3b: Genetic evidence that the gene or variant is disease-causing (Please describe variants using HGVS nomenclature at the cDNA and protein level validated using .
INVESTIGATOR Name Faculty Appointment & Institutional Affiliation Email Telephone SPECIFICATION Disease name: OMIM Number (if available for phenotype): Disease description (Please include details on the phenotype, such as degree of intellectual disability, for each affected individual. Ideally, attach a pedigree using NSGC nomenclature, specifying who was assessed clinically and at the molecular level): Gene name: (HGNC approved gene symbol) Gene discovery project (if applicable): Category of (check one, see instructions) 1 2a 2b 3a 3b Unique Canadian population if 3a or 3b: Genetic evidence that the gene or variant is disease-causing (Please describe variants using HGVS nomenclature at the cDNA and protein level validated using .
Connection_Application_Form.docx