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  2. Predominantly Antibody Deficiency
  3. SKIV2L
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Predominantly Antibody Deficiency

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

2 reviews

Sarah Leigh (Genomics England)

I don't know

This review article reports mild intellectual disability (ID) is seen in about 50% of affected individuals with Trichohepatoenteric Syndrome. However, it is not clear from this article whether these cases with ID have TTC37 or SKIV2L variants.
Created: 29 Jun 2020, 5:23 p.m. | Last Modified: 29 Jun 2020, 5:23 p.m.
Panel Version: 0.3182

Phenotypes
Intellectual disability

Publications

Created: 29 Jun 2020, 5:23 p.m.
Last Modified: 29 Jun 2020, 5:23 p.m.
Panel version: Imported from Mendeliome panel version 0.3182

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Immunodeficiency is part of the phenotype.
Sources: Expert list
Created: 10 Jan 2020, 3:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Trichohepatoenteric syndrome 2, MIM#614602

Publications

Created: 10 Jan 2020, 3:47 a.m.

Panel version: 0.6

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Trichohepatoenteric syndrome 2, MIM#614602
OMIM
600478
Clinvar variants
Variants in SKIV2L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Jan 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).

10 Jan 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).

10 Jan 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 Predominantly antibody deficiency_MelbourneGenomics_VCGS. 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 Review for gene: SKIV2L was set to GREEN