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 7.13
Latest signed off version: v7.0 (30 Apr 2025)

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 6.8
    Latest signed off version: v6.0 (30 Apr 2025)

    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 5.29
    Latest signed off version: v5.0 (30 Apr 2025)

    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 8.91
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • 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 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		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 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
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S 615356
    Amber TRAPPC11 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.280
    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 Amber
    Phenotypes
    • myopathy and intellectual disability