Childhood onset dystonia, chorea or related movement disorder
Gene: IFIH1

IFIH1 (interferon induced with helicase C domain 1)
EnsemblGeneIds (GRCh38): ENSG00000115267
EnsemblGeneIds (GRCh37): ENSG00000115267
OMIM: 606951, Gene2Phenotype
IFIH1 is in 17 panels

1 review

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Unsteady gait and dyskinesia
Created: 9 Jul 2019, 4:24 p.m. | Last Modified: 9 Jul 2019, 4:24 p.m.

Panel Version: 0.9

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

PanelApp
Expert Review Green
London North GLH

Phenotypes

Aicardi-Goutieres syndrome 7, OMIM:615846

OMIM

606951

Clinvar variants

Variants in IFIH1

Penetrance

None

Panels with this gene

History Filter Activity

24 Nov 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: IFIH1 were changed from Aicardi-Goutieres syndrome 7 615846 to Aicardi-Goutieres syndrome 7, OMIM:615846

6 Dec 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to IFIH1. Mode of inheritance for gene IFIH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Aicardi-Goutieres syndrome 7 615846 for gene: IFIH1

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: IFIH1 was added gene: IFIH1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: IFIH1 was set to

Childhood onset dystonia, chorea or related movement disorder Gene: IFIH1