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Prepair 1000+

Gene: VPS53

Green List (high evidence)

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

1 review

Clare Hunt (Victorian Clinical Genetics Services)

Green List (high evidence)

HGNC:VPS53, 25608. Features include severe intellectual disability, progressive microcephaly, spastic quadriplegia, and early-onset epilepsy. More than 5 unrelated families reported.
Founder mutations seen in Moroccan Jewish community; splice-site variant seen; c.1556+5G-A, and missense variant; c.1556+5G-A (see 12920088). Reported carrier frequency of 1 in 37 for each of these variants in the Jewish Moroccan population.
Created: 30 Jan 2025, 10:48 a.m. | Last Modified: 30 Jan 2025, 10:48 a.m.
Panel Version: 1.1367

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 2E, MIM#615851

Publications

Details

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

History Filter Activity

6 Feb 2025, Gel status: 3

Added Tag

Lilian Downie (Victorian Clinical Genetics Services)

Tag founder tag was added to gene: VPS53.

30 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

30 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: VPS53 were changed from Pontocerebellar hypoplasia, type 2E, 615851 (3) to Pontocerebellar hypoplasia, type 2E, MIM#615851

30 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: VPS53 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Pontocerebellar hypoplasia, type 2E, 615851 (3) for gene: VPS53

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: VPS53 was added gene: VPS53 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: VPS53 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS53 were set to Pontocerebellar hypoplasia, type 2E, 615851 (3)