IFIH1

interferon induced with helicase C domain 1
OMIM: 606951, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Green IFIH1 in COVID-19 research


Level 2: Viral research
Version 1.59

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • GRID V2.0
  • Literature
Phenotypes
  • Rhinovirus and other RNA viruses (AR)
  • Classical AGS, SLE, SP, SMS
  • Autoinflammatory Disorders
  • Aicardi-Goutieres syndrome 7 (AD)
  • susceptibility to RNA viruses
  • Recurrent and prolonged infections
  • Defects in Intrinsic and Innate Immunity

Green IFIH1 in White matter disorders and cerebral calcification - narrow panel


Version 1.14
Signed off v.1.12 on 2 Mar 2020

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • Aicardi-Goutieres Syndrome
    • General Leukodystrophy & Mitochondrial Leukoencephalopathy
    • Aicardi-Goutieres syndrome 7, 615846
    • Aicardi-Goutieres syndrome 7
    • Aicardi-Gouti res, isolated spasticity, bilateral striatal necrosis

    Green IFIH1 in Primary immunodeficiency


    Version 2.175
    Signed off v.2.1 on 24 Feb 2020

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • North West GLH
    • London North GLH
    • Expert Review Green
    • IUIS Classification February 2018
    • Victorian Clinical Genetics Services
    • GRID V2.0
    Phenotypes
    • Aicardi-Goutieres syndrome 7 (AD)
    • Classical AGS, SLE, SP, SMS
    • Autoinflammatory Disorders
    • Rhinovirus and other RNA viruses (AR)
    • susceptibility to RNA viruses
    • Defects in Intrinsic and Innate Immunity

    Green IFIH1 in Structural basal ganglia disorders

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

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • UKGTN
    Phenotypes
    • Aicardi-Goutieres syndrome 7 615846

    Green IFIH1 in Intracerebral calcification disorders

    Level 3: Parenchymal brain disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.18

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Eligibility statement prior genetic testing
    • Expert Review Green
    • UKGTN
    • Expert list
    Phenotypes
    • Aicardi-Goutieres syndrome 7, 615846
    • Aicardi-Goutières, isolated spasticity, bilateral striatal necrosis

    Green IFIH1 in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.78

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Aicardi-Goutieres Syndrome
    • Aicardi-Goutieres syndrome 7
    • General Leukodystrophy & Mitochondrial Leukoencephalopathy
    Tags
    • missense

    Green IFIH1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.9
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Singleton-Merten syndrome 1, 182250

    Green IFIH1 in Fetal anomalies


    Version 1.74
    Signed off v.1.2 on 17 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • AICARDI-GOUTIERES SYNDROME 7
    • SINGLETON-MERTEN SYNDROME
    • Aicardi-Goutieres syndrome 7, 615846
    • Singleton-Merten syndrome 1, 182250
    Tags
    • watchlist

    Green IFIH1 in DDG2P


    Version 2.9
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • AICARDI-GOUTIERES SYNDROME 7 615846
    • SINGLETON-MERTEN SYNDROME 182250
    Tags
    • watchlist

    Green IFIH1 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.122
    Signed off v.2.2 on 13 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Aicardi-Goutieres syndrome 7, 615846
    • seizures

    Green IFIH1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.170
    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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • AICARDI-GOUTIERES SYNDROME 7

    Red IFIH1 in Adult onset movement disorder


    Version 1.5
    Signed off v.1.2 on 2 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    Phenotypes
    • Aicardi-Goutieres syndrome 7 615846

    Green IFIH1 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.4
    Signed off v.1.2 on 25 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Aicardi-Goutieres syndrome 7 615846

    Green IFIH1 in Severe Paediatric Disorders


    Version 1.7

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Singleton-Merten syndrome 1, 182250
    • Aicardi-Goutieres syndrome 7, 615846