1. Panels
  2. Hair disorders
  3. SKIV2L
STRs in panel
Prev Next
Regions in panel
Prev Next

Hair disorders

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

3 reviews

Chris Richmond (Genetic Health Queensland)

Green List (high evidence)

Sources: Expert Review
Created: 31 Mar 2021, 3:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Trichohepatoenteric syndrome 2

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 31 Mar 2021, 3:02 a.m.

Panel version: 0.39

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

Created: 1 Jul 2020, 10:28 a.m.
Last Modified: 1 Jul 2020, 10:30 a.m.
Panel version: Imported from Mendeliome panel version 0.3202

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Trichohepatoenteric syndrome 2, MIM#614602
OMIM
600478
Clinvar variants
Variants in SKIV2L
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

31 Mar 2021, 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).

31 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SKIV2L were changed from Trichohepatoenteric syndrome 2 to Trichohepatoenteric syndrome 2, MIM#614602

31 Mar 2021, 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).

31 Mar 2021, Gel status: 0

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

Chris Richmond (Genetic Health Queensland)

gene: SKIV2L was added gene: SKIV2L was added to Hair disorders. Sources: Expert Review Mode of inheritance for gene: SKIV2L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SKIV2L were set to 18982349; 18982349; 22444670 Phenotypes for gene: SKIV2L were set to Trichohepatoenteric syndrome 2 Penetrance for gene: SKIV2L were set to unknown Review for gene: SKIV2L was set to GREEN gene: SKIV2L was marked as current diagnostic