Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Regression

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 17 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Gain-of-function variants in this gene cause AGS, some affected individuals experience episodic neurological regression
Sources: Expert Review
Created: 24 Nov 2019, 6:37 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Aicardi-Goutieres syndrome 7, MIM#615846

Publications

Mode of pathogenicity
Other

History Filter Activity

24 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 Nov 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IFIH1 was added gene: IFIH1 was added to Regression_VCGS. Sources: Expert Review Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IFIH1 were set to 24686847 Phenotypes for gene: IFIH1 were set to Aicardi-Goutieres syndrome 7, MIM#615846 Mode of pathogenicity for gene: IFIH1 was set to Other Review for gene: IFIH1 was set to GREEN