IFIH1

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

13 panels

Panel Reviews Mode of inheritance Details
13 panels

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


Version 1.9

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 2.0

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 Dystonia - childhood onset


Version 1.8

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

Green IFIH1 in Intracerebral calcification disorders

Level 3: Parenchymal brain disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.17

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 1.71

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 1.254

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 0.371

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 1.176

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 1.497

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 2.1135

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 1.0

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 0.222

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