VPS51

VPS51, GARP complex subunit
OMIM: 615738, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber VPS51 in Severe microcephaly


Level 2: Neurology
Version 9.3
Latest signed off version: v9.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Pontocerebellar hypoplasia, type 13, OMIM:618606
  • pontocerebellar hypoplasia, type 13, MONDO:0032831
  • neurodevelopmental disorder, MONDO:0700092
Tags
  • Q2_26_promote_green
Green VPS51 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 7.11
Latest signed off version: v7.0 (6 May 2026)

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 10.18
Latest signed off version: v10.0 (6 May 2026)

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, OMIM:618606
    • pontocerebellar hypoplasia, type 13, MONDO:0032831
    • neurodevelopmental disorder, MONDO:0700092
    Tags
    • Q2_26_promote_green