PanelApp
  1. Genes and Genomic Entities
  2. ATAD1

ATAD1

ATPase family, AAA domain containing 1
OMIM: 614452, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Amber ATAD1 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.417

Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Hyperekplexia 4, MIM# 618011

    Green ATAD1 in Mendeliome


    Version 1.2374

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hyperekplexia 4, MIM#618011

    Green ATAD1 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.119

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hyperekplexia 4, MIM#618011

    Green ATAD1 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.573

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

    Green ATAD1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hyperekplexia 4, MIM#618011

    Green ATAD1 in Paroxysmal Dyskinesia


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.141

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Tremors_Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hyperekplexia 4, MIM#618011

    Green ATAD1 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
    • Hyperekplexia 4, 618011 (3), Autosomal recessive

    Green ATAD1 in Fetal anomalies


    Version 1.314

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Expert list
    Phenotypes
    • Hyperekplexia 4 - #618011

    Green ATAD1 in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hyperekplexia 4, MIM#618011