IFIH1

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

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 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