IFIH1

interferon induced with helicase C domain 1
OMIM: 606951
PanelMode of inheritanceDetails
8 panels
R-numbers: R57
Signed-off version 1.137
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Aicardi-Goutieres syndrome 7 615846
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
AICARDI-GOUTIERES SYNDROME 7 615846, SINGLETON-MERTEN SYNDROME 182250
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
AICARDI-GOUTIERES SYNDROME 7, SINGLETON-MERTEN SYNDROME, Aicardi-Goutieres syndrome 7, 615846, Singleton-Merten syndrome 1, 182250
R-numbers: R59
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Aicardi-Goutieres syndrome 7, 615846, seizures
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
AICARDI-GOUTIERES SYNDROME 7
R-numbers: R15
Signed-off version 2.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Singleton-Merten syndrome 1, 182250
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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