Cerebellar hypoplasia
Gene: VPS53
VPS53 (VPS53, GARP complex subunit)
EnsemblGeneIds (GRCh38): ENSG00000141252
EnsemblGeneIds (GRCh37): ENSG00000141252
OMIM: 615850, Gene2Phenotype
VPS53 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000141252
EnsemblGeneIds (GRCh37): ENSG00000141252
OMIM: 615850, Gene2Phenotype
VPS53 is in 9 panels
1 review
Alice Gardham (Genomics England)
Comment on list classification: Offered on UGTN PCH panelCreated: 3 Nov 2016, 11:40 a.m.
Not listed on G2P. Only identified in 10 affected individuals from 4 non-consanguineous families of Jewish Moroccan descent with pontocerebellar hypoplasiaCreated: 3 Nov 2016, 11:38 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia, type 2E 615851
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- UKGTN
- Phenotypes
-
- Pontocerebellar Hypoplasia type 2E
- Pontocerebellar Hypoplasia
- OMIM
- 615850
- Clinvar variants
- Variants in VPS53
- Penetrance
- Complete
- Publications
-
- PMID: 24577744
- Panels with this gene
History Filter Activity
22 Feb 2017, Gel status: 2
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)22/02/2017: Panel revised after internal clinical review and further curation.
3 Nov 2016, Gel status: 2
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Amber List (Moderate Evidence).
19 May 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
11 May 2016, Gel status: 0
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
11 May 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)VPS53 was added to Cerebellar hypoplasiapanel. Source: UKGTN
20 Jan 2016, Gel status: 0
Added New Source
Helen Savage (Congenica Ltd)VPS53 was added to Cerebellar hypoplasiapanel. Sources: Literature,Other
20 Jan 2016, Gel status: 0
Created
Helen Savage (Congenica Ltd)VPS53 was created by helen.savage