Genomics England

IFIH1

interferon induced with helicase C domain 1

Panel	Mode of inheritance	Details
Filter panels10 panels
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 4.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Aicardi-Goutieres syndrome 7, OMIM:615846
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 5.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Aicardi-Goutieres syndrome 7, OMIM:615846
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes AICARDI-GOUTIERES SYNDROME 7, OMIM:615846, SINGLETON-MERTEN SYNDROME, OMIM:182250
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 5.10	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Aicardi-Goutieres syndrome 7, OMIM:615846
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Aicardi-Goutieres syndrome 7, OMIM:615846, Singleton-Merten syndrome 1, OMIM:182250
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Aicardi-Goutieres syndrome 7, OMIM:615846
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 5.3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Aicardi-Goutieres syndrome 7, OMIM:615846 (AD), Singleton-Merten syndrome 1, OMIM:182250 (AD), Susceptibility to RNA viruses (AR)
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 5.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Singleton-Merten syndrome 1, OMIM:182250
Green in Structural eye disease R-numbers: R36 Signed-off version 3.79	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Singleton-Merten syndrome 1, OMIM:182250
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 4.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Aicardi-Goutieres syndrome 7, OMIM:615846