This is the last video in a four-part series entitled Improving Care for Developmental Disabilities & Dysmorphic Features. The Midwest Genetics Network (MGN) and its partners developed this video series. The Health Resources and Services …
Year: 2022
The Pediatric Genetics Evaluation: What to Expect
This is the second video in a four-part series entitled Improving Care for Developmental Disabilities & Dysmorphic Features. The Midwest Genetics Network (MGN) and its partners developed this video series. The Health Resources and Services …
Weitzman Institute Genetics Webinar Series 2022 – 2023
The Genetics Webinar Series meets on the 2nd Tuesday of every month from 11 AM-12:00 PM CT. Below are the dates of the sessions for the 2022-2023 Program Year. Register November 8, 2022 – Genetics Cases and …
Malignant Hyperthermia Susceptibility
PMID Gene Reviews Entry: 20301325; Genes: RYR1, CACNA1S; Inheritance: AD; Typical Age at Onset: Child/Adult
Wilson Disease
PMID Gene Reviews Entry: 20301685; Genes: ATP7B; Inheritance: AR (recommend searching only for individuals with biallelic mutations); Typical Age at Onset: Child
Hypertrophic cardiomyopathy, dilated cardiomyopathy
PMID Gene Reviews Entry: 20301725; Genes: MYBPC3, MYH7, TNNT2, TNNI3, TPM1, MYL3, ACTC1, PRKAG2, GLA, MYL2, LMNA; Inheritance: MYBPC3 & MYL2 – AD, GLA – XL; Typical Age at Onset: Child/Adult
Ehlers-Danlos syndrome, vascular type
PMID Gene Reviews Entry: 20301667; Genes: COL3A1; Inheritance: AD; Typical Age at Onset: Child/Adult
Hereditary breast and ovarian cancer
PMID Gene Reviews Entry: 20301425; Genes: BRCA1, BRCA2; Inheritance: AD; Typical Age at Onset: Adult;
Improving Care for Developmental Disabilities & Dysmorphic Features
Join the Region 4 Midwest Genetics Network for a new Continuing Education Learning Activity on “Improving Care for Developmental Disabilities & Dysmorphic Features” This activity is a multi-state virtual learning collaborative to connect clinicians and …
Evidence-Based Guidelines Webinar 101: Exome and Genome Sequencing for Pediatric Patients with Congenital Anomalies or Intellectual Disability
The Evidence-Based Guidelines Webinar Series, supported by NCC and ACMG, is a two-part webinar series for each of the ACMG Evidence-Based Guidelines. The first session provides an overview of the systematic-review process, development of the …