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  2. Ataxia and cerebellar anomalies - narrow panel
  3. VPS53
Genes in panel
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Ataxia and cerebellar anomalies - narrow panel

Gene: VPS53

Amber List (moderate evidence)
VPS53 (VPS53, GARP complex subunit)
EnsemblGeneIds (GRCh38): ENSG00000141252
EnsemblGeneIds (GRCh37): ENSG00000141252
OMIM: 615850, Gene2Phenotype
VPS53 is in 9 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Pontocerebellar Hypoplasia
  • Pontocerebellar Hypoplasia type 2E
  • Pontocerebellar hypoplasia 2E (#615851)
OMIM
615850
Clinvar variants
Variants in VPS53
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Comment on list classification

19 Dec 2018, Gel status: 2

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Pontocerebellar hypoplasia 2E (#615851) for gene: VPS53 Publications for gene VPS53 were changed from PMID: 24577744 to 24577744

19 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: VPS53 was added gene: VPS53 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Amber Mode of inheritance for gene: VPS53 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS53 were set to PMID: 24577744 Phenotypes for gene: VPS53 were set to Pontocerebellar Hypoplasia; Pontocerebellar Hypoplasia type 2E