IFIH1

interferon induced with helicase C domain 1
OMIM: 606951, ClinGen, DECIPHER

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Green IFIH1 in Brain Calcification Level 2: Neurology and neurodevelopmental disorders Version 3.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aicardi-Goutieres syndrome 7, MIM#615846
Green IFIH1 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Aicardi-Goutieres syndrome 7 MIM#615846
Green IFIH1 in Glaucoma congenital Level 2: Ophthalmological disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Singleton-Merten syndrome 1, MIM# 182250
Green IFIH1 in Inflammatory bowel disease Level 2: Gastroenterological disorders Version 1.0	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Inflammatory Bowel Disease
Green IFIH1 in Mendeliome Version 2.0	3 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Phenotypes Aicardi-Goutieres syndrome 7, MIM#615846 Early-onset Inflammatory Bowel Disease
Amber IFIH1 in Pulmonary Fibrosis_Interstitial Lung Disease Level 2: Respiratory disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Aicardi-Goutieres syndrome 7, MIM#615846
Green IFIH1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Aicardi-Goutieres syndrome 7, MIM#615846
Green IFIH1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Aicardi-Goutieres syndrome 7, MIM#615846
Green IFIH1 in Disorders of immune dysregulation Level 2: Immunological disorders Version 2.0	3 reviews	Unknown	Sources Expert Review Green Expert list Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green
Green IFIH1 in Defects of intrinsic and innate immunity Level 2: Immunological disorders Version 2.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert list Phenotypes Immunodeficiency 95 MIM#619773
Green IFIH1 in Susceptibility to Viral Infections Level 2: Immunological disorders Version 2.0	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Severe viral respiratory infections Rhinovirus and other RNA viruses
Green IFIH1 in Autoinflammatory Disorders Level 2: Immunological disorders Version 3.0	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Aicardi-Goutieres syndrome 7, MIM# 615846
Green IFIH1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes IFIH1-related type 1 interferonopathy MONDO:0700262
Green IFIH1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green NHS GMS Expert Review Victorian Clinical Genetics Services Phenotypes Singleton-Merten syndrome 1, 182250
Green IFIH1 in Leukodystrophy Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Aicardi-Goutieres syndrome 7 MIM#615846
Green IFIH1 in Hereditary Spastic Paraplegia Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Aicardi-Goutieres syndrome 7 MIM#615846
Green IFIH1 in Fetal anomalies Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Aicardi-Goutieres syndrome 7 MIM#615846 Singleton-Merten syndrome 1, MIM# 182250
Green IFIH1 in Nucleotide metabolism disorders Level 2: Metabolic disorders Version 1.0	3 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Victorian Clinical Genetics Services Phenotypes Disorders of ectonucleotide and nucleic acid metabolism Aicardi-Goutieres syndrome 7, MIM#615846 Early-onset Inflammatory Bowel Disease