VPS51

VPS51 subunit of GARP complex
OMIM: 615738, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green VPS51 in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Pontocerebellar hypoplasia, type 13, MIM# 618606

Green VPS51 in Mendeliome


Version 2.53

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Pontocerebellar hypoplasia, type 13, MIM# 618606

Green VPS51 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Pontocerebellar hypoplasia, type 13, MIM# 618606

Green VPS51 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.6

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert list
    Phenotypes
    • Pontocerebellar hypoplasia, type 13, MIM# 618606

    Green VPS51 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.8

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Pontocerebellar hypoplasia, type 13, MIM# 618606

    Green VPS51 in Fetal anomalies


    Version 2.2

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Pontocerebellar hypoplasia, type 13, MIM# 618606