This Panel is marked as Deleted
GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: IFIH1
IFIH1 (interferon induced with helicase C domain 1)
EnsemblGeneIds (GRCh38): ENSG00000115267
EnsemblGeneIds (GRCh37): ENSG00000115267
OMIM: 606951, Gene2Phenotype
IFIH1 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000115267
EnsemblGeneIds (GRCh37): ENSG00000115267
OMIM: 606951, Gene2Phenotype
IFIH1 is in 17 panels
1 review
Tracy Lester (Genetics laboratory, Oxford UK)
OI and decreasing bone density gp of SD - 3 cases with same R822Q variant. Also associated wth Aicardi-Goutieres syndrome type 7 - 615846; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Singleton-Merten syndrome 1 (182250)
Publications
Mode of pathogenicity
Other - please provide details in the comments
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Singleton-Merten syndrome 1 (182250)
- OMIM
- 606951
- Clinvar variants
- Variants in IFIH1
- Penetrance
- None
- Panels with this gene
-
- Structural basal ganglia disorders
- Intracerebral calcification disorders
- COVID-19 research
- Structural eye disease
- Inherited white matter disorders
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Early onset or syndromic epilepsy
- Adult onset dystonia, chorea or related movement disorder
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Glaucoma (developmental)
- Childhood onset hereditary spastic paraplegia
- Infantile enterocolitis & monogenic inflammatory bowel disease
History Filter Activity
6 Mar 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: IFIH1 was added gene: IFIH1 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: IFIH1 were set to Singleton-Merten syndrome 1 (182250)