VPS45

vacuolar protein sorting 45 homolog
OMIM: 610035, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green VPS45 in Bone Marrow Failure Level 2: Haematological disorders Version 1.93	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Neutropenia, severe congenital, 5, autosomal recessive, MIM#615285 Tags treatable
Green VPS45 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neutropaenia, severe congenital, 5, autosomal recessive, MIM# 615285 Tags treatable
Green VPS45 in Phagocyte Defects Level 2: Immunological disorders Version 1.29 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Neutropaenia, severe congenital, 5, autosomal recessive, MIM# 615285 Tags treatable
Red VPS45 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Neutropenia, severe congenital, 5, autosomal recessive OMIM #615285
Green VPS45 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 Neutropenia, severe congenital, 5, autosomal recessive, 615285 (3)
Green VPS45 in IBMDx study Version 0.25	review	Unknown	Sources Expert Review Green IBMDx Study Expert Review Green Expert list Phenotypes Neutropenia, severe congenital, 5, autosomal recessive, MIM#615285
Green VPS45 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neutropenia, severe congenital, 5, autosomal recessive, 615285 (3)
Green VPS45 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BeginNGS Phenotypes Neutropenia, severe congenital, 5, autosomal recessive, MIM#615285 Tags treatable immunological
Green VPS45 in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neutropenia, severe congenital, 5, autosomal recessive, 615285 (3)