SKIC3

SKI3 subunit of superkiller complex
OMIM: 614589, ClinGen, DECIPHER

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Red SKIC3 in Cataract Level 2: Ophthalmological disorders Version 2.0	1 review	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services
Green SKIC3 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 1, MIM# 222470
Green SKIC3 in Inflammatory bowel disease Level 2: Gastroenterological disorders Version 1.0 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Trichohepatoenteric syndrome 1, MIM#222470 Colitis Pancolitis Inflammatory bowel disease-like phenotype Very Early Onset Inflammatory Bowel Disease
Green SKIC3 in Mendeliome Version 2.10	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Trichohepatoenteric syndrome 1, MIM# 222470 Tags new gene name
Green SKIC3 in Predominantly Antibody Deficiency Level 2: Immunological disorders Version 2.0 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green
Green SKIC3 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 1, MIM# 222470 Respiratory infections IUGR Facial dysmorphic features Wooly hair:Early-onset intractable diarrhoea Liver cirrhosis Platelet abnormalities
Green SKIC3 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes trichohepatoenteric syndrome 1 MONDO:0024541
Green SKIC3 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 1, 222470 (3)
Green SKIC3 in Hair disorders Level 2: Dermatological disorders Version 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes Trichohepatoenteric syndrome 1, MIM#222470
Green SKIC3 in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Trichohepatoenteric syndrome
Green SKIC3 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 Expert list Phenotypes Trichohepatoenteric syndrome 1, MIM# 222470
Red SKIC3 in Fetal anomalies Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Trichohepatoenteric syndrome 1, MIM# 222470
Green SKIC3 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 1 MIM#222470
Red SKIC3 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Trichohepatoenteric syndrome 1, MIM#222470
Green SKIC3 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 1 MIM#222470