1. Genes and Genomic Entities
  2. TRAPPC11

TRAPPC11

trafficking protein particle complex 11
OMIM: 614138, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Amber TRAPPC11 in Congenital disorders of glycosylation


Level 2: Metabolic
Version 8.8
Latest signed off version: v8.7 (12 Aug 2026)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies, childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Literature
    Phenotypes
    • Muscular dystrophy, limb-girdle, autosomal recessive 18 OMIM:615356
    • autosomal recessive limb-girdle muscular dystrophy type 2S MONDO:0014144
    Green TRAPPC11 in Congenital muscular dystrophy


    Level 2: Neurology
    Version 7.27
    Latest signed off version: v7.26 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • London South GLH
    • Literature
    Phenotypes
    • Muscular dystrophy, limb-girdle, autosomal recessive 18, OMIM:615356
    Green TRAPPC11 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies


    Level 2: Neurology
    Version 6.18
    Latest signed off version: v6.17 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Muscular dystrophy, limb-girdle, type 2S, 615356
    Amber TRAPPC11 in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 9.30
    Latest signed off version: v9.29 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • Muscular dystrophy, limb-girdle, autosomal recessive 18 OMIM:615356
    • autosomal recessive limb-girdle muscular dystrophy type 2S MONDO:0014144
    Amber TRAPPC11 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.5
    Latest signed off version: v8.0 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Muscular dystrophy, limb-girdle, autosomal recessive 18, OMIM:615356
    Green TRAPPC11 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
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S 615356
    Amber TRAPPC11 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 Amber
    Phenotypes
    • myopathy and intellectual disability