Clinical Management & Guidelines

Acute Management

• British Inherited Metabolic Disorder Group: Emergency Guides (BIMDG)
• Maladies Héréditaires du Métabolisme (Hereditary Metabolic Diseases)
• Management of Hyperammonaemia with Dialysis (paper)
• Inborn Errors of Metabolism Knowledgebase (IEMbase)
• New England Consortium of Metabolic Programs: Acute Illness

Acute & Chronic Management

• ClinGen Actionability Reports
• Rare Disease Clinical Activity Protocol Program (RareCAP)
• Vademecum Metabolicum

Chronic Management

• ACMG Practice Guidelines
• Clinical Genomic Database (CGD)
• ClinicalTrials.gov
• Cochrane Reviews
• Dietary Management of MSUD (paper)
• Find a Genetic Clinic (ACMG)
• GeneReviews
• Genomic Results E-Booklet (GenCOUNSEL)
• Medical Genetics Summaries
• N-lorem
• Rx Genes
• Treatable Intellectual Disability Endeavor in BC (TIDE BC)
• Unique
• United Porphyrias Association: Testing and Diagnosis
• ZebraMD

Newborn Screen

• ACMG ACT Sheets and Algorithms
• Baby’s First Test
• Recommended Uniform Screening Panel (RUSP)

Dysmorphology

• Atlas of Human Malformation Syndromes in Diverse Populations
• Elements of Morphology: Article
• Elements of Morphology: List
• FaceBase
• Face2Gene
• GestaltMatcher

Gene Panel Tools

• Genepanel.iobio
• Genetic Testing Registry (GTR)
• Multiple List Comparator
• PanelApp England

Pedigree Tools

• PhenoTips