This Panel is marked as Deleted
Immunological disorders_SuperPanel_PanelAppAustralia
Gene: SKIV2L
SKIV2L (Ski2 like RNA helicase)
EnsemblGeneIds (GRCh38): ENSG00000204351
EnsemblGeneIds (GRCh37): ENSG00000204351
OMIM: 600478, Gene2Phenotype
SKIV2L is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000204351
EnsemblGeneIds (GRCh37): ENSG00000204351
OMIM: 600478, Gene2Phenotype
SKIV2L is in 11 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Expert Review Green
- Phenotypes
-
- Facial dysmorphic features
- Platelet abnormalities
- IUGR
- Early-onset intractable diarrhoea
- Trichohepatoenteric syndrome 2, MIM#614602
- Wooly hair
- Respiratory infections
- Liver cirrhosis
- OMIM
- 600478
- Clinvar variants
- Variants in SKIV2L
- Penetrance
- None
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Intellectual disability
- COVID-19 research
- Undiagnosed metabolic disorders
- Intestinal failure or congenital diarrhoea
- Fetal anomalies
- DDG2P
- Gastrointestinal epithelial barrier disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
7 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: SKIV2L was added gene: SKIV2L was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Expert Review Green,Expert list Mode of inheritance for gene: SKIV2L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SKIV2L were set to 22444670 Phenotypes for gene: SKIV2L were set to Facial dysmorphic features; Platelet abnormalities; IUGR; Early-onset intractable diarrhoea; Trichohepatoenteric syndrome 2, MIM#614602; Wooly hair; Respiratory infections; Liver cirrhosis