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Fetal anomalies

Gene: VPS53

Green List (high evidence)

VPS53 (VPS53, GARP complex subunit)
EnsemblGeneIds (GRCh38): ENSG00000141252
EnsemblGeneIds (GRCh37): ENSG00000141252
OMIM: 615850, Gene2Phenotype
VPS53 is in 10 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.
Created: 29 Apr 2019, 2:52 p.m.
Updated rating from Amber to Green to match confirmed Disease confidence rating in DD-G2P for new disorder (Progressive cerebella-cerebral atrophy type 2). Phenotype requires clinical review for fetal relevance.
Created: 22 Apr 2019, 8:13 p.m.
VPS53 was added to the Fetal anomalies panel from the PAGE Additional Gene List (with rating: probable). New gene:disorder association added to DDG2P in March 2019: Progressive cerebella-cerebral atrophy type 2. DDG2P Disease confidence: confirmed. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic.
Created: 19 Apr 2019, 8:02 p.m.
DDG2P rating in original PAGE list: Probable.
Created: 11 Dec 2018, 9:05 a.m.

Details

History Filter Activity

22 Apr 2019, Gel status: 3

Added New Source, Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source DD-Gene2Phenotype was added to VPS53. Source Expert Review Green was added to VPS53. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

19 Apr 2019, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: VPS53 were set to 24577744; 12920088

19 Apr 2019, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: VPS53 were changed from PONTOCEREBELLAR HYPOPLASIA, TYPE 2E 615851 to PONTOCEREBELLAR HYPOPLASIA, TYPE 2E 615851; Progressive cerebella-cerebral atrophy type 2

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: VPS53 was added gene: VPS53 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber Mode of inheritance for gene: VPS53 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS53 were set to 24577744; 12920088 Phenotypes for gene: VPS53 were set to PONTOCEREBELLAR HYPOPLASIA, TYPE 2E 615851