Last update: 20240724

Inborn errors of metabolism

Invitae panels

• Usage: Not in use.
• While these a good gene lists, they do not include inheritance pattern information (i.e. autosomal dominant/recessive) which is required for more accurate ACMGuru classifications:
  • Methylmalonic Acidemia and Homocystinuria (GTR000553763.2)
    • https://www.ncbi.nlm.nih.gov/gtr/tests/553763/
  • Cobalamin/Propionate/Homocysteine Metabolism Related Disorders (GTR000519388.10)

Genomics England panels

• Usage: currently imported as metabol in ACMGuru.
• Likely inborn error of metabolism - targeted testing not possible (Version 5.24)
  • https://panelapp.genomicsengland.co.uk/panels/467/
  • This gene panel from Genomics England contains inheritance pattern information (i.e. autosomal dominant/recessive).
  • Relevant disorders: Likely inborn error of metabolism - targeted testing not possible, Likely inborn error of metabolism, Inborn errors of metabolism, R98
  • Panel types: GMS Rare Disease Virtual, Component Of Super Panel, GMS signed-off
  • Latest signed off version: v5.0 (1 May 2024)

Inborn errors of immunity

• Usage: currently imported as iuis in ACMGuru.
• International Union of Immunological Societies (IUIS) Inborn Errors of Immunity Committee (IEI)
  • See https://lawlessgenomics.com/topic/iuis-iei-table-page