IFIH1

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

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 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