1. Genes and Genomic Entities
  2. VPS51

VPS51

VPS51, GARP complex subunit
OMIM: 615738, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green VPS51 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.184
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pontocerebellar hypoplasia, type 13, OMIM:618606
Amber VPS51 in Intellectual disability


Level 2: Developmental disorders
Version 9.355
Latest signed off version: v9.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Pontocerebellar hypoplasia, type 13, MIM# 618606