Inherited white matter 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 12 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer. It is a confirmed DD gene for AICARDI-GOUTIERES SYNDROME 7. More than 3 unrelated cases with different variants reported in OMIM, in patients from different ethnicities. It is not on the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951, but the list includes genes associated with Aicardi-Goutieres Syndrome. Green gene in the ID panel version 1.2.
Created: 16 Aug 2016, 11:34 a.m.

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy

Publications

  • Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_612

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Aicardi-Goutieres Syndrome
  • Aicardi-Goutieres syndrome 7
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
missense
OMIM
606951
Clinvar variants
Variants in IFIH1
Penetrance
Complete
Panels with this gene

History Filter Activity

6 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.

16 Aug 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).

16 Aug 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for IFIH1 were set to

16 Aug 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for IFIH1 were set to Aicardi-Goutieres Syndrome;Aicardi-Goutieres syndrome 7;General Leukodystrophy & Mitochondrial Leukoencephalopathy

16 Aug 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for IFIH1 were set to 25655951

16 Aug 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).

4 Aug 2016, Gel status: 0

Added New Source

Ian Berry (Leeds Genetics Laboratory)

IFIH1 was added to Inherited white matter disorderspanel. Sources: Expert list

4 Aug 2016, Gel status: 0

Created

Ian Berry (Leeds Genetics Laboratory)

IFIH1 was created by [email protected]