Genomics England
GMS Panels
Panels
Genes and Entities

SKIV2L

Ski2 like RNA helicase
OMIM: 600478
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
TRICHOHEPATOENTERIC SYNDROME 2 615602
Green
in Intestinal failure or congenital diarrhoea
R-numbers: R331
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Trichohepatoenteric syndrome 2, OMIM:614602
Green
in Likely inborn error of metabolism - targeted testing not possible
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 4.78
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Infantile enterocolitis & monogenic inflammatory bowel disease, Trichohepatoenteric syndrome 2 (Other metabolic disorders)
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 4.123
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Trichohepatoenteric syndrome 2,614602, Trichohepatoenteric syndrome, Immune dysfunction