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Mendeliome

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple families reported with trichohepatoenteric syndrome, agree unclear if ID is an association.
Created: 1 Jul 2020, 10:28 a.m. | Last Modified: 1 Jul 2020, 10:30 a.m.
Panel Version: 0.3202

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Trichohepatoenteric syndrome 2, MIM# 614602

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Trichohepatoenteric syndrome 2 614602
  • Intellectual disability
OMIM
600478
Clinvar variants
Variants in SKIV2L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jul 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).

1 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SKIV2L were changed from to Trichohepatoenteric syndrome 2 614602; Intellectual disability

1 Jul 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SKIV2L were set to

1 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SKIV2L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SKIV2L was added gene: SKIV2L was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SKIV2L was set to Unknown