TRAPPC9

trafficking protein particle complex 9
OMIM: 611966, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green TRAPPC9 in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 1.44

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Intellectual developmental disorder, autosomal recessive 13 MIM#613192

    Green TRAPPC9 in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.356

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Intellectual developmental disorder, autosomal recessive MIM#13 613192

    Green TRAPPC9 in Mendeliome


    Version 1.1902

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Mental retardation, autosomal recessive 13, MIM# 613192
    Tags
    • SV/CNV

    Green TRAPPC9 in Microcephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.269

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Mental retardation, autosomal recessive 13, MIM# 613192
    Tags
    • SV/CNV

    Green TRAPPC9 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.522

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

    Green TRAPPC9 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Intellectual disability, autosomal recessive 13 (MIM# 613192)
    Tags
    • SV/CNV

    Green TRAPPC9 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mental retardation, autosomal recessive 13, 613192 (3)

    Green TRAPPC9 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.252

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13
    • MRT13

    Green TRAPPC9 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Intellectual disability, autosomal recessive 13 (MIM# 613192)

    Green TRAPPC9 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mental retardation, autosomal recessive 13, 613192 (3)