Hereditary spastic paraplegia - childhood onset

Gene: IFIH1

No list

IFIH1 (interferon induced with helicase C domain 1)
EnsemblGeneIds (GRCh38): ENSG00000115267
EnsemblGeneIds (GRCh37): ENSG00000115267
OMIM: 606951, Gene2Phenotype
IFIH1 is in 16 panels

1 review

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

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