Cerebellar hypoplasiaGene: VPS53
Comment on list classification: Offered on UGTN PCH panel
Created: 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 hypoplasia
Created: 3 Nov 2016, 11:38 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Pontocerebellar hypoplasia, type 2E 615851
22/02/2017: Panel revised after internal clinical review and further curation.
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Red List (Low Evidence).
This proposed gene was validated and added to this panel
VPS53 was added to Cerebellar hypoplasiapanel. Source: UKGTN
VPS53 was added to Cerebellar hypoplasiapanel. Sources: Literature,Other
VPS53 was created by helen.savage