Genomics England

Ski2 like RNA helicase

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes TRICHOHEPATOENTERIC SYNDROME 2 615602
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Trichohepatoenteric syndrome 2, OMIM:614602
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 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 6.14	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 6.12	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Trichohepatoenteric syndrome 2,614602, Trichohepatoenteric syndrome, Immune dysfunction