STXBP2

syntaxin binding protein 2
OMIM: 601717, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green STXBP2 in Vasculitis Level 2: Immunological disorders Version 0.93	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red STXBP2 in Cataract Level 2: Ophthalmological disorders Version 0.375	1 review	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services
Green STXBP2 in Congenital Diarrhoea Level 2: Gastroenterological disorders Version 1.23	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Hemophagocytic lymphohistiocytosis, familial, 5, MIM# 613101 Enteropathy
Green STXBP2 in Inflammatory bowel disease Level 2: Gastroenterological disorders Version 0.126 Component of the following Super Panels: Immunological disorders_SuperPanel	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green STXBP2 in Mendeliome Version 1.3512	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Haemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease 613101
Green STXBP2 in Disorders of immune dysregulation Level 2: Immunological disorders Version 1.33 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 Expert Review Green Victorian Clinical Genetics Services
Red STXBP2 in Leukodystrophy - adult onset Level 2: Neurology and neurodevelopmental disorders Version 0.151 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Hemophagocytic lymphohistiocytosis, familial, 5 613101
Green STXBP2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3)
Green STXBP2 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hemophagocytic lymphohistiocytosis
Green STXBP2 in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Haemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease MIM#613101
Green STXBP2 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Hemophagocytic lymphohistiocytosis, familial, 5, MIM# 613101 Tags treatable immunological
Green STXBP2 in Prepair 500+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Haemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease MIM#613101