1. Genes and Genomic Entities
  2. FASTKD2

FASTKD2

FAST kinase domains 2
OMIM: 612322, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels
Red FASTKD2 in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.152

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Combined oxidative phosphorylation deficiency 44, OMIM:618855
  • Dystonia
Red FASTKD2 in Mitochondrial disorder with complex IV deficiency


Level 2: Mitochondrial
Version 4.14
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 44, OMIM:618855
Red FASTKD2 in Adult onset neurodegenerative disorder


Level 2: Neurology
Version 8.21
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review Red
Phenotypes
  • Combined oxidative phosphorylation deficiency 44, OMIM:618855
Green FASTKD2 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.645

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Combined oxidative phosphorylation deficiency 44, OMIM:618855
Green FASTKD2 in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.107
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Combined oxidative phosphorylation deficiency 44, OMIM:618855
    Green FASTKD2 in Possible mitochondrial disorder - nuclear genes


    Level 2: Mitochondrial
    Version 4.27
    Latest signed off version: v4.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Combined oxidative phosphorylation deficiency 44, OMIM:618855
    Green FASTKD2 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.176
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Combined oxidative phosphorylation deficiency 44, OMIM:618855
    Green FASTKD2 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.51
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Expert
    Phenotypes
    • Combined oxidative phosphorylation deficiency 44, OMIM:618855
    Red FASTKD2 in Adult onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 5.5
    Latest signed off version: v5.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • South West GLH
    • Expert Review Red
    Phenotypes
    • Combined oxidative phosphorylation deficiency 44, OMIM:618855
    • Dystonia
    Amber FASTKD2 in Paediatric or syndromic cardiomyopathy


    Level 2: Cardiology
    Version 7.99
    Latest signed off version: v7.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • MetBioNet
    • NHS GMS
    Phenotypes
    • Combined oxidative phosphorylation deficiency 44, OMIM:618855
    Red FASTKD2 in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.20
    Latest signed off version: v7.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • South West GLH
    • Expert Review Red
    • London North GLH
    Phenotypes
    • Combined oxidative phosphorylation deficiency 44, OMIM:618855
    • Dystonia