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Fetal anomalies

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

IUGR is a feature.
Created: 15 Nov 2021, 5:45 a.m. | Last Modified: 15 Nov 2021, 5:45 a.m.
Panel Version: 0.462
Created: 15 Nov 2021, 5:45 a.m.
Last Modified: 15 Nov 2021, 5:45 a.m.
Panel version: 0.462

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Leukodystrophy is a feature of AGS (gene reviews).

Skeletal abnormalities reported in SINGLETON-MERTEN SYNDROME, apparent in a neonate?

No genotype-phenotype correlation thus far. Reports suggest that AGS and SINGLETON-MERTEN SYNDROME constitute part of the same disease spectrum.

GoF have been proven for these variants.

*Reduced penetrance also reported.
Created: 15 Nov 2021, 1:14 a.m. | Last Modified: 15 Nov 2021, 1:14 a.m.
Panel Version: 0.448

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Aicardi-Goutieres syndrome 7 MIM#615846; SINGLETON-MERTEN SYNDROME 1 (MIM# 182250)

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice

Created: 15 Nov 2021, 1:14 a.m.
Last Modified: 15 Nov 2021, 1:14 a.m.
Panel version: 0.448

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Aicardi-Goutieres syndrome 7 MIM#615846
  • Singleton-Merten syndrome 1, MIM# 182250
OMIM
606951
Clinvar variants
Variants in IFIH1
Penetrance
None
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

15 Nov 2021, 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).

15 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IFIH1 were changed from SINGLETON-MERTEN SYNDROME; Singleton-Merten syndrome 1, 182250; Aicardi-Goutieres syndrome 7, 615846; AICARDI-GOUTIERES SYNDROME 7 to Aicardi-Goutieres syndrome 7 MIM#615846; Singleton-Merten syndrome 1, MIM# 182250

15 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IFIH1 were set to 25542954

15 Nov 2021, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: IFIH1 was changed from Other to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

15 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: IFIH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

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 Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: IFIH1 were set to 25542954 Phenotypes for gene: IFIH1 were set to SINGLETON-MERTEN SYNDROME; Singleton-Merten syndrome 1, 182250; Aicardi-Goutieres syndrome 7, 615846; AICARDI-GOUTIERES SYNDROME 7 Mode of pathogenicity for gene: IFIH1 was set to Other