STXBP2:Ensemblv115

syntaxin binding protein 2
OMIM: 601717, ClinGen, DECIPHER

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green STXBP2 in Vasculitis Level 2: Immunological disorders Version 1.0	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services
Red STXBP2 in Cataract Level 2: Ophthalmological disorders Version 1.0	1 review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Red
Green STXBP2 in Congenital Diarrhoea Level 2: Gastroenterological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Hemophagocytic lymphohistiocytosis, familial, 5, MIM# 613101 Enteropathy
Green STXBP2 in Inflammatory bowel disease Level 2: Gastroenterological disorders Version 1.0	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services
Green STXBP2 in Disorders of immune dysregulation Level 2: Immunological disorders Version 2.0	1 review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Expert Review Green
Red STXBP2 in Leukodystrophy - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Hemophagocytic lymphohistiocytosis, familial, 5 613101
Green STXBP2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3)
Green STXBP2 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Haemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease MIM#613101
Green STXBP2 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS BabySeq Category A gene Expert Review Green Phenotypes Hemophagocytic lymphohistiocytosis, familial, 5, MIM# 613101 Tags treatable immunological
Green STXBP2 in Prepair 500+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Haemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease MIM#613101