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Mendeliome

Gene: VPS52

Amber List (moderate evidence)

VPS52 (VPS52, GARP complex subunit)
EnsemblGeneIds (GRCh38): ENSG00000223501
EnsemblGeneIds (GRCh37): ENSG00000223501
OMIM: 603443, Gene2Phenotype
VPS52 is in 1 panel

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

HGSA poster (P110) from Louise Bicknell's group at the University of Otago. 11 cases from 8 families (USA, NZ, Saudi Arabia) with a broad syndromic developmental delay phenotype with biallelic variants (both missense & truncating).
Sources: Other
Created: 22 Aug 2024, 10:49 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
complex neurodevelopmental disorder with or without congenital anomalies MONDO:0100465

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • complex neurodevelopmental disorder with or without congenital anomalies MONDO:0100465
OMIM
603443
Clinvar variants
Variants in VPS52
Penetrance
None
Panels with this gene

History Filter Activity

22 Aug 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: vps52 has been classified as Amber List (Moderate Evidence).

22 Aug 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: vps52 has been classified as Amber List (Moderate Evidence).

22 Aug 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: VPS52 was added gene: VPS52 was added to Mendeliome. Sources: Other Mode of inheritance for gene: VPS52 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS52 were set to complex neurodevelopmental disorder with or without congenital anomalies MONDO:0100465 Review for gene: VPS52 was set to AMBER