SKIC2

SKI2 subunit of superkiller complex
OMIM: 600478, ClinGen, DECIPHER

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Red SKIC2 in Cataract Level 2: Ophthalmological disorders Version 2.0	1 review	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services
Green SKIC2 in Congenital Diarrhoea Level 2: Gastroenterological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Trichohepatoenteric syndrome 2, MIM# 614602
Green SKIC2 in Inflammatory bowel disease Level 2: Gastroenterological disorders Version 1.0 Component of the following Super Panels: Immunological disorders_SuperPanel	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SKIC2 in Mendeliome Version 2.10	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Trichohepatoenteric syndrome 2 614602 Intellectual disability Tags new gene name
Green SKIC2 in Predominantly Antibody Deficiency Level 2: Immunological disorders Version 2.0 Component of the following Super Panels: Immunological disorders_SuperPanel	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Trichohepatoenteric syndrome 2, MIM#614602
Green SKIC2 in Combined Immunodeficiency Level 2: Immunological disorders Version 2.0 Component of the following Super Panels: Immunological disorders_SuperPanel	1 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 SKIC2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Trichohepatoenteric syndrome 2, 614602 (3)
Green SKIC2 in Hair disorders Level 2: Dermatological disorders Version 1.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes Trichohepatoenteric syndrome 2, MIM#614602
Green SKIC2 in Liver Failure_Paediatric Level 2: Gastroenterological disorders Version 2.0 Component of the following Super Panels: Liverome Superpanel	1 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 SKIC2 in Fetal anomalies Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Trichohepatoenteric syndrome 2, MIM#614602
Green SKIC2 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Trichohepatoenteric syndrome 2, MIM# 614602
Green SKIC2 in Prepair 500+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Trichohepatoenteric syndrome 2, MIM# 614602