TRAPPC6B

trafficking protein particle complex 6B
OMIM: 610397, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green TRAPPC6B in Severe microcephaly


Level 2: Neurology
Version 9.26
Latest signed off version: v9.13 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, OMIM:617862
Green TRAPPC6B in DDG2P


Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • TRAPPC6B-related neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
    • MONDO:0060640
    • OMIM:617862.0
    Amber TRAPPC6B in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.74
    Latest signed off version: v9.56 (12 Aug 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
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, OMIM:617862
    Green TRAPPC6B in Intellectual disability


    Level 2: Developmental disorders
    Version 11.28
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, OMIM:617862