IFIH1

interferon induced with helicase C domain 1
OMIM: 606951
PanelMode of inheritanceDetails
10 panels
R-numbers: R57
Signed-off version 2.3
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 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
AICARDI-GOUTIERES SYNDROME 7 615846, SINGLETON-MERTEN SYNDROME 182250
R-numbers: R21, R412
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Aicardi-Goutieres syndrome 7, OMIM:615846, Singleton-Merten syndrome 1, OMIM:182250
R-numbers: R59
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Aicardi-Goutieres syndrome 7, OMIM:615846
R-numbers: R61
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Aicardi-Goutieres syndrome 7, OMIM:615846
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Aicardi-Goutieres syndrome 7, OMIM:615846
R-numbers: R15
Signed-off version 3.1
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)
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Singleton-Merten syndrome 1, OMIM:182250
R-numbers: R36
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Singleton-Merten syndrome 1, OMIM:182250
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Aicardi-Goutieres syndrome 7, OMIM:615846