AIFM1

apoptosis inducing factor mitochondria associated 1
OMIM: 300169, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Red AIFM1 in Structural basal ganglia disorders

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.17

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Combined oxidative phosphorylation deficiency 6 300816
Tags
  • watchlist

Green AIFM1 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.414

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Disorders of mitochondrial apoptosis
  • Combined oxidative phosphorylation deficiency 6, 300816
  • Cowchock syndrome, 310490

Green AIFM1 in Inborn errors of metabolism


Version 2.8
Signed off v.2.3 on 17 Feb 2020

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Disorders of mitochondrial apoptosis
    • Cowchock syndrome, 310490
    • Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
    • Combined oxidative phosphorylation deficiency 6, 300816

    Green AIFM1 in Possible mitochondrial disorder - nuclear genes


    Version 1.15
    Signed off v.1.13 on 17 Feb 2020

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Combined oxidative phosphorylation deficiency 6, 300816

    Amber AIFM1 in Fetal anomalies


    Version 1.73
    Signed off v.1.2 on 17 Feb 2020

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
    • COWCHOCK SYNDROME

    Amber AIFM1 in DDG2P


    Version 2.5
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 300816
    • COWCHOCK SYNDROME 310490

    Green AIFM1 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.368

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • South West GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Cowchock syndrome
    • Combined oxidative phosphorylation deficiency 6

    No list AIFM1 in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.18
    Signed off v.2.5 on 13 Feb 2020

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert list
    Phenotypes
    • Deafness, X-linked 5, MIM#300614

    Green AIFM1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.66
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Combined oxidative phosphorylation deficiency 6, 300816Cowchock syndrome, 310490
    • COWCHOCK SYNDROME

    Green AIFM1 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.6
    Signed off v.2.4 on 17 Feb 2020

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Expert
    Phenotypes
    • Disorders of mitochondrial apoptosis
    • Combined oxidative phosphorylation deficiency 6, 300816
    • Cowchock syndrome, 310490

    Red AIFM1 in Adult onset movement disorder


    Version 1.5
    Signed off v.1.2 on 2 Mar 2020

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • NHS GMS
    • South West GLH
    • Expert Review Red
    Phenotypes
    • Combined oxidative phosphorylation deficiency 6 300816

    Green AIFM1 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.4
    Signed off v.1.2 on 27 Feb 2020

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review
    • Expert Review Green
    • South West GLH
    • London North GLH
    • NHS GMS
    • South West GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Combined oxidative phosphorylation deficiency 6
    • Cowchock syndrome

    Red AIFM1 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.4
    Signed off v.1.2 on 25 Feb 2020

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • South West GLH
    • Expert Review Red
    • London North GLH
    Phenotypes
    • Combined oxidative phosphorylation deficiency 6 300816

    Green AIFM1 in Severe Paediatric Disorders


    Version 1.6

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Combined oxidative phosphorylation deficiency 6, 300816
    • Cowchock syndrome, 310490
    • Deafness, X-linked 5, 300614