PanelApp (staging)
  1. Genes and Genomic Entities
  2. FASTKD2

FASTKD2

FAST kinase domains 2
OMIM: 612322, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green FASTKD2 in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 44, MIM# 618855
  • FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632

Green FASTKD2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.108

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
    • Mitochondrial complex IV deficiency, MIM#220110

    Green FASTKD2 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.969

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    Phenotypes
    • Combined oxidative phosphorylation deficiency 44, MIM# 618855
    • FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632

    Green FASTKD2 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.572

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green FASTKD2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Mitochondrial complex IV deficiency, MIM#220110

    Green FASTKD2 in Rhabdomyolysis and Metabolic Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.20

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    • Expert Review
    Phenotypes
    • Combined oxidative phosphorylation deficiency 44 (MIM#618855)

    Amber FASTKD2 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.196

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • MetBioNet
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • ?Mitochondrial complex IV deficiency, 220110