Intracerebral calcification disorders

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

Yanick Crow (University of Manchester)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Aicardi-Goutières, isolated spasticity, bilateral striatal necrosis

Publications

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Expert review green, and it is a green gene on the Intellectual disability gene panel (version 1.14) and Inherited white matter disorders gene panel (version 1.0). More than 3 cases/family reports and different variants reported (see publications).
Created: 29 Nov 2016, 1:22 p.m.
Mode of inheritance sourced from G2P.
Created: 10 Feb 2016, 5:01 p.m.

History Filter Activity

9 Feb 2017, Gel status: 4

Upload gene information

Louise Daugherty (Genomics England Curator)

IFIH1 was added to Intracerebral calcification disorderspanel. Sources: Eligibility statement prior genetic testing

19 Dec 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

19th Dec 2016: panel revised according to expert review and internal curation review.

29 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Nov 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for IFIH1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

29 Nov 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for IFIH1 were set to Aicardi-Goutieres syndrome 7, 615846; Aicardi-Goutières, isolated spasticity, bilateral striatal necrosis

29 Nov 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for IFIH1 were set to 24686847; 25604658;24995871

29 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Nov 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for IFIH1 were set to 24686847;25604658

25 Aug 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

IFIH1 was added to Intracerebral calcification disorderspanel. Source: UKGTN

10 Feb 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

IFIH1 was created by ellenmcdonagh

10 Feb 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

IFIH1 was added to Intracerebral calcification disorderspanel. Sources: Expert list