Malignant Hyperthermia Susceptibility
PMID Gene Reviews Entry: 20301325; Genes: RYR1, CACNA1S; Inheritance: AD; Typical Age at Onset: Child/Adult
PMID Gene Reviews Entry: 20301325; Genes: RYR1, CACNA1S; Inheritance: AD; Typical Age at Onset: Child/Adult
PMID Gene Reviews Entry: 20301685; Genes: ATP7B; Inheritance: AR (recommend searching only for individuals with biallelic mutations); Typical Age at Onset: Child
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
PMID Gene Reviews Entry: 20301667; Genes: COL3A1; Inheritance: AD; Typical Age at Onset: Child/Adult
PMID Gene Reviews Entry: 20301425; Genes: BRCA1, BRCA2; Inheritance: AD; Typical Age at Onset: Adult;
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 their clinic staff interested in improving performance, documentation, and follow-up (including referrals and genetic testing) on screening for developmental disabilities …