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Prepair 1000+

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

Lauren Thomas (VIctorian Clinical Genetics Services)

Green List (high evidence)

Trichohepatoenteric syndrome 2 is characterized by intrauterine growth restriction, facial dysmorphism, hair abnormalities, intractable diarrhea, and immunodeficiency. Mild intellectual disability is seen in about 50% of individuals with Trichohepatoenteric syndrome, however it is unclear whether the cases with ID have SKIC3 (formerly TTC37) or SKIC2 (formerly SKIV2L).

HGNC approved symbol/name: SKIC2 ** note new gene name **
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes
Created: 3 Mar 2025, 5:49 a.m. | Last Modified: 3 Mar 2025, 5:49 a.m.
Panel Version: 1.1566

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Trichohepatoenteric syndrome 2, MIM# 614602

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Trichohepatoenteric syndrome 2, 614602 (3)
OMIM
600478
Clinvar variants
Variants in SKIV2L
Penetrance
None
Panels with this gene

History Filter Activity

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Trichohepatoenteric syndrome 2, 614602 (3) for gene: SKIV2L

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SKIV2L was added gene: SKIV2L was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SKIV2L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SKIV2L were set to Trichohepatoenteric syndrome 2, 614602 (3)