AGMO

alkylglycerol monooxygenase
OMIM: 613738, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red AGMO in Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Amber AGMO in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.67
Latest signed off version: v4.0 (22 Mar 2023)

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 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.193
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • 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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    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