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 8.31
Latest signed off version: v8.0 (30 Apr 2025)

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 6.424
Latest signed off version: v6.0 (30 Apr 2025)

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 8.120
    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 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 9.279
    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 Green
    • Victorian Clinical Genetics Services
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, OMIM:617862