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  2. Combined Immunodeficiency
  3. SKIV2L
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Combined Immunodeficiency

Gene: SKIV2L

Green List (high evidence)
SKIV2L (Ski2 like RNA helicase)
EnsemblGeneIds (GRCh38): ENSG00000204351
EnsemblGeneIds (GRCh37): ENSG00000204351
OMIM: 600478, Gene2Phenotype
SKIV2L is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least six unrelated individuals reported.
Sources: Expert list
Created: 4 Apr 2020, 3:03 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Trichohepatoenteric syndrome 2, MIM# 614602; Respiratory infections; IUGR; Facial dysmorphic features; Wooly hair; Early-onset intractable diarrhoea; Liver cirrhosis; Platelet abnormalities

Publications

Created: 4 Apr 2020, 3:03 a.m.

Panel version: 0.76

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Trichohepatoenteric syndrome 2, MIM# 614602
  • Respiratory infections
  • IUGR
  • Facial dysmorphic features
  • Wooly hair
  • Early-onset intractable diarrhoea
  • Liver cirrhosis
  • Platelet abnormalities
OMIM
600478
Clinvar variants
Variants in SKIV2L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: skiv2l has been classified as Green List (High Evidence).

4 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: skiv2l has been classified as Green List (High Evidence).

4 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SKIV2L was added gene: SKIV2L was added to Combined Immunodeficiency. Sources: 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 Trichohepatoenteric syndrome 2, MIM# 614602; Respiratory infections; IUGR; Facial dysmorphic features; Wooly hair; Early-onset intractable diarrhoea; Liver cirrhosis; Platelet abnormalities Review for gene: SKIV2L was set to GREEN