PanelApp
  1. Genes and Genomic Entities
  2. DNAJC12

DNAJC12

DnaJ heat shock protein family (Hsp40) member C12
OMIM: 606060, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green DNAJC12 in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.43

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384

    Green DNAJC12 in Mendeliome


    Version 1.3512

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384

    Green DNAJC12 in Neurotransmitter Defects


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.7

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hyperphenylalaninemia, mild, non-BH4-deficient, MIM# 617384

    Green DNAJC12 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
    • Expert list
    Phenotypes
    • Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384

    Green DNAJC12 in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.288

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hyperphenylalaninemia, mild, non-BH4-deficient, 617384

    Green DNAJC12 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 (3), Autosomal recessive

    Red DNAJC12 in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Expert list
    Phenotypes
    • Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384

    Green DNAJC12 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384

    Green DNAJC12 in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 1.137

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • hyperphenylalaninemia due to DNAJC12 deficiency MONDO:0044304

    Green DNAJC12 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384
    Tags
    • treatable
    • metabolic