Genomics England
GMS Panels
Panels
Genes and Entities

VPS53

VPS53, GARP complex subunit
OMIM: 615850
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Progressive cerebella-cerebral atrophy type 2
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PONTOCEREBELLAR HYPOPLASIA, TYPE 2E 615851, Progressive cerebella-cerebral atrophy type 2
Green
in Hereditary ataxia with onset in adulthood
R-numbers: R54
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia 2E, 615851
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia, type 2E, 615851, Progressive cerebello-cerebral atrophy, intellectual disability, developmental delay