SKIV2L

Ski2 like RNA helicase
OMIM: 600478, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green SKIV2L in Vasculitis Level 2: Immunological disorders Version 0.82	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red SKIV2L in Cataract Level 2: Ophthalmological disorders Version 0.366	review	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services
Green SKIV2L in Congenital Diarrhoea Level 2: Gastroenterological disorders Version 1.13	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Trichohepatoenteric syndrome 2, MIM# 614602
Green SKIV2L in Inflammatory bowel disease Level 2: Gastroenterological disorders Version 0.121 Component of the following Super Panels: Immunological disorders_SuperPanel	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SKIV2L in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Trichohepatoenteric syndrome 2 614602 Intellectual disability
Green SKIV2L in Predominantly Antibody Deficiency Level 2: Immunological disorders Version 0.135 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Trichohepatoenteric syndrome 2, MIM#614602
Green SKIV2L in Combined Immunodeficiency Level 2: Immunological disorders Version 1.66 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Trichohepatoenteric syndrome 2, MIM# 614602 Respiratory infections IUGR Facial dysmorphic features Wooly hair Early-onset intractable diarrhoea Liver cirrhosis Platelet abnormalities
Green SKIV2L in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Trichohepatoenteric syndrome 2, 614602 (3)
Green SKIV2L in Hair disorders Level 2: Dermatological disorders Version 0.71	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes Trichohepatoenteric syndrome 2, MIM#614602
Green SKIV2L in Liver Failure_Paediatric Level 2: Gastroenterological disorders Version 1.24 Component of the following Super Panels: Liverome Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Trichohepatoenteric syndrome 2, MIM# 614602 Respiratory infections IUGR Facial dysmorphic features Wooly hair Early-onset intractable diarrhoea Liver cirrhosis Platelet abnormalities
Green SKIV2L in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Trichohepatoenteric syndrome 2, MIM#614602
Green SKIV2L in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Trichohepatoenteric syndrome 2, 614602 (3)
Green SKIV2L in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Trichohepatoenteric syndrome 2, 614602 (3)