1. Genes and Genomic Entities
  2. AGMO

AGMO

alkylglycerol monooxygenase
OMIM: 613738, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber AGMO in Severe microcephaly


Level 2: Neurology
Version 8.43
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Literature
Phenotypes
  • Autosomal recessive primary microcephaly (MCPH)
  • primary microcephaly, developmental delay, short stature and intellectual disability
Red AGMO in Early onset or syndromic epilepsy


Level 2: Neurology
Version 8.176
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • microcephaly
    • intellectual disability
    • epilepsy
    • generalized tonic-clonic seizures
    Amber AGMO in Intellectual disability


    Level 2: Developmental disorders
    Version 9.370
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • microcephaly
    • intellectual disability
    • epilepsy
    • developmental delay