PanelApp
  1. Genes and Genomic Entities
  2. TRAPPC12

TRAPPC12

trafficking protein particle complex 12
OMIM: 614139, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green TRAPPC12 in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669

Green TRAPPC12 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.357

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669

Green TRAPPC12 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.267

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669

    Green TRAPPC12 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.594

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669

    Green TRAPPC12 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669

    Red TRAPPC12 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review
    Phenotypes
    • Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669

    Green TRAPPC12 in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Hydrocephaly
    • Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, OMIM:617669
    • Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, MONDO:0044696

    Green TRAPPC12 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669