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  3. VPS45
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Bone Marrow Failure

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: 0.40

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neutropenia, severe congenital, 5, autosomal recessive, MIM#615285
Tags
treatable
OMIM
610035
Clinvar variants
Variants in VPS45
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: VPS45.

2 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vps45 has been classified as Green List (High Evidence).

2 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vps45 has been classified as Green List (High Evidence).

2 Mar 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: VPS45 was added gene: VPS45 was added to Bone Marrow Failure. Sources: Expert list Mode of inheritance for gene: VPS45 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS45 were set to 23599270; 23738510 Phenotypes for gene: VPS45 were set to Neutropenia, severe congenital, 5, autosomal recessive, MIM#615285 Review for gene: VPS45 was set to GREEN gene: VPS45 was marked as current diagnostic