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DDG2P

Gene: IFIH1

Green List (high evidence)

IFIH1 (interferon induced with helicase C domain 1)
EnsemblGeneIds (GRCh38): ENSG00000115267
EnsemblGeneIds (GRCh37): ENSG00000115267
OMIM: 606951, Gene2Phenotype
IFIH1 is in 12 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for AICARDI-GOUTIERES SYNDROME 7.
Created: 28 Jan 2019, 2:29 p.m.
Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
Created: 19 Nov 2018, 1:50 p.m.
Multiple MOPs in DD-G2P download: activating, all missense/in frame. Multiple ratings in DD-G2P download: Rated confirmed for AICARDI-GOUTIERES SYNDROME 7 615846 and rated probable for SINGLETON-MERTEN SYNDROME 182250.
Created: 19 Nov 2018, 11:30 a.m.

Details

Mode of Inheritance
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
OMIM
606951
Clinvar variants
Variants in IFIH1
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Multiple MOPs in DD-G2P downlo

28 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: ifih1 has been classified as Green List (High Evidence).

19 Nov 2018, Gel status: 2

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: IFIH1.

19 Nov 2018, Gel status: 2

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes SINGLETON-MERTEN SYNDROME 182250 for gene: IFIH1 Publications for gene IFIH1 were changed from 24995871 to 25620204

19 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Rebecca Foulger (Genomics England curator)

gene: IFIH1 was added gene: IFIH1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: IFIH1 were set to 24995871 Phenotypes for gene: IFIH1 were set to AICARDI-GOUTIERES SYNDROME 7 615846 Mode of pathogenicity for gene: IFIH1 was set to Other - please provide details in the comments