TRAPPC6B

trafficking protein particle complex 6B
OMIM: 610397, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Red TRAPPC6B in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.78

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy (MIM#617862)

Green TRAPPC6B in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862

Green TRAPPC6B in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.301

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862

Green TRAPPC6B in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.119

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862

    Green TRAPPC6B in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.540

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green TRAPPC6B in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.573

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862

    Green TRAPPC6B in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862

    Red TRAPPC6B in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review
    Phenotypes
    • Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862

    Red TRAPPC6B in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review
    Phenotypes
    • Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862
    Tags
    • for review