Hereditary spastic paraplegia - childhood onset

Gene: IFIH1

Amber List (moderate evidence)

IFIH1 (interferon induced with helicase C domain 1)
EnsemblGeneIds (GRCh38): ENSG00000115267
EnsemblGeneIds (GRCh37): ENSG00000115267
OMIM: 606951, Gene2Phenotype
IFIH1 is in 18 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Spasticity can be a prominent feature of Aicardi-Goutières syndrome (OMIM:615846) and has been reported as an early presenting sign in some cases. There has also been a case of spastic paraplegia without other common manifestations such as abnormal brain imaging and impaired cognitive development.

Overall there is value in including IFIH1 on this panel and therefore this gene should be promoted to Green at the next GMS panel update.
Created: 24 Nov 2021, 1:37 p.m. | Last Modified: 24 Nov 2021, 1:37 p.m.
Panel Version: 2.115

Zornitza Stark (Australian Genomics)

Green List (high evidence)

At least four cases reported with spastic paraparesis as a feature of the condition.
Sources: Expert list
Created: 19 Sep 2020, 7:35 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Aicardi-Goutieres syndrome 7 MIM#615846

Publications

History Filter Activity

24 Nov 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_21_rating tag was added to gene: IFIH1.

24 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ifih1 has been classified as Amber List (Moderate Evidence).

24 Nov 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

19 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: IFIH1 was added gene: IFIH1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IFIH1 were set to 25243380; 31427910; 24686847; 24995871 Phenotypes for gene: IFIH1 were set to Aicardi-Goutieres syndrome 7 MIM#615846 Review for gene: IFIH1 was set to GREEN