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  3. VPS53
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Cerebral Palsy

Gene: VPS53

Red List (low evidence)
VPS53 (VPS53, GARP complex subunit)
EnsemblGeneIds (GRCh38): ENSG00000141252
EnsemblGeneIds (GRCh37): ENSG00000141252
OMIM: 615850, Gene2Phenotype
VPS53 is in 11 panels

1 review

Clare van Eyk (University of Adelaide)

Red List (low evidence)

1 individual reported with biallelic LOF variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Pontocerebellar hypoplasia type 2E is an autosomal recessive neurodegenerative disorder characterized by profound intellectual disability, progressive microcephaly, spasticity, and early-onset epilepsy. 1 family reported with complex hereditary spastic paraparesis phenotype (PMID: 31418091).
Sources: Literature
Created: 24 Jun 2024, 5:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 2E, MIM#615851

Publications

Created: 24 Jun 2024, 5:24 a.m.

Panel version: 1.294

Details

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

History Filter Activity

24 Jun 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vps53 has been classified as Red List (Low Evidence).

24 Jun 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vps53 has been classified as Red List (Low Evidence).

24 Jun 2024, Gel status: 0

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

Clare van Eyk (University of Adelaide)

gene: VPS53 was added gene: VPS53 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: VPS53 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS53 were set to PMID: 38693247 Phenotypes for gene: VPS53 were set to Pontocerebellar hypoplasia, type 2E, MIM#615851 Review for gene: VPS53 was set to RED