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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
TRICHOHEPATOENTERIC SYNDROME 2 615602
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Infantile enterocolitis & monogenic inflammatory bowel disease, Trichohepatoenteric syndrome 2 (Other metabolic disorders)
R-numbers: R331
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Trichohepatoenteric syndrome 2 614602
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Trichohepatoenteric syndrome 2,614602, Trichohepatoenteric syndrome, Immune dysfunction