VPS13B, vacuolar protein sorting 13 homolog B, 157680

N. diseases: 158; N. variants: 309
Disease: Leukopenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.130 GeneticVariation disease BEFREE VPS13B mutation causes Cohen syndrome (CS) consistent with the proband's phenotype (intellectual disability (ID), microcephaly, facial gestalt, retinal dystrophy, joint hypermobility and neutropenia). 27832746 2016
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.130 Biomarker disease BEFREE We chose VPS13B as a candidate because of similarities in clinical signs between TNS and Cohen syndrome, in human, such as neutropenia and a typical facial dysmorphism. 21605373 2011
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.130 Biomarker disease BEFREE From this study and a review of more than 160 genotyped cases from the literature, it is concluded that, given the large size of the gene, VPS13B screening is not indicated in the absence of chorioretinal dystrophy or neutropenia in patients aged over 5 years. 20656880 2010
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.130 Biomarker disease HPO