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IBMDx study

Gene: VPS45

Green List (high evidence)
VPS45 (vacuolar protein sorting 45 homolog)
EnsemblGeneIds (GRCh38): ENSG00000136631
EnsemblGeneIds (GRCh37): ENSG00000136631
OMIM: 610035, Gene2Phenotype
VPS45 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Same homozygous missense variant, p.Thr224Asn, identified in 6 Middle Eastern families. A different variant, p.Glu238Lys, identified in another family. Zebrafish model.
Sources: Expert list
Created: 2 Mar 2020, 2:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neutropenia, severe congenital, 5, autosomal recessive, MIM#615285

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 2 Mar 2020, 2:40 a.m.

Panel version: Imported from Bone Marrow Failure panel version 0.40

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Expert Review Green
  • Expert list
Phenotypes
  • Neutropenia, severe congenital, 5, autosomal recessive, MIM#615285
OMIM
610035
Clinvar variants
Variants in VPS45
Penetrance
None
Panels with this gene

History Filter Activity

10 Dec 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: VPS45 was added gene: VPS45 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: VPS45 was set to Unknown Phenotypes for gene: VPS45 were set to Neutropenia, severe congenital, 5, autosomal recessive, MIM#615285