VPS36

vacuolar protein sorting 36 homolog
OMIM: 610903, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber VPS36 in Severe microcephaly


Level 2: Neurology
Version 9.13
Latest signed off version: v9.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
Amber VPS36 in Early onset or syndromic epilepsy


Level 2: Neurology
Version 9.42
Latest signed off version: v9.0 (6 May 2026)

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 Amber
    • Literature
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    Amber VPS36 in Intellectual disability


    Level 2: Developmental disorders
    Version 10.69
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    Tags
    • Q3_26_promote_green