VPS45:Ensemblv115

vacuolar protein sorting 45 homolog
OMIM: 610035, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green VPS45 in Bone Marrow Failure Level 2: Haematological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neutropenia, severe congenital, 5, autosomal recessive, MIM#615285 Tags treatable
Green VPS45 in Phagocyte Defects Level 2: Immunological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Expert Review Green Phenotypes Neutropaenia, severe congenital, 5, autosomal recessive, MIM# 615285 Tags treatable
Green VPS45 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 Neutropenia, severe congenital, 5, autosomal recessive, 615285 (3)
Green VPS45 in IBMDx study Version 1.0	1 review	Unknown	Sources Expert list Expert Review Green IBMDx Study Expert Review Green Phenotypes Neutropenia, severe congenital, 5, autosomal recessive, MIM#615285
Green VPS45 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Neutropenia, severe congenital, 5, autosomal recessive, MIM#615285
Green VPS45 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Neutropenia, severe congenital, 5, autosomal recessive, MIM#615285 Tags treatable immunological
Green VPS45 in Prepair 500+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Neutropaenia, severe congenital, 5, autosomal recessive, MIM# 615285