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  2. Hereditary ataxia with onset in adulthood
  3. VPS53
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Hereditary ataxia with onset in adulthood

Gene: VPS53

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

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.
Created: 15 Apr 2019, 10:21 a.m.

Panel version: 1.8

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Four families in total across the two papers - three of them are compound het for the same two variants (possible Moroccan founders). Some functional evidence provided
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia 2E, 615851

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

Created: 15 Apr 2019, 10:06 a.m.

Panel version: 1.7

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
  • Hereditary ataxia v1.148
Phenotypes
  • Pontocerebellar hypoplasia 2E, 615851
OMIM
615850
Clinvar variants
Variants in VPS53
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Apr 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: VPS53 were changed from Pontocerebellar hypoplasia 2E (#615851); Pontocerebellar hypoplasia 2E, 615851 to Pontocerebellar hypoplasia 2E, 615851

27 Apr 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: vps53 has been classified as Green List (High Evidence).

15 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Pontocerebellar hypoplasia 2E, 615851 for gene: VPS53

14 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to VPS53.

14 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to VPS53.

9 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Comment on phenotypes: Implica

15 Dec 2018, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: VPS53 was added gene: VPS53 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: VPS53 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS53 were set to 24577744 Phenotypes for gene: VPS53 were set to Pontocerebellar hypoplasia 2E (#615851)