1. Genes and Genomic Entities
  2. VPS50

VPS50

VPS50, EARP/GARPII complex subunit
OMIM: 616465, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Amber VPS50 in Cholestasis


Level 2: Gastrohepatology
Version 3.19
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Neonatal cholestatic liver disease
  • Failure to thrive
  • Profound global developmental delay
  • Postnatal microcephaly
  • Seizures
  • Abnormality of the corpus callosum
Tags
  • watchlist
Amber VPS50 in Malformations of cortical development


Level 2: Neurology
Version 7.30
Latest signed off version: v7.0 (30 Oct 2024)

Component of the following Super Panels:

  • Cerebral malformation

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neonatal cholestatic liver disease
    • Failure to thrive
    • Profound global developmental delay
    • Postnatal microcephaly
    • Seizures
    • Abnormality of the corpus callosum
    Tags
    • watchlist
    Amber VPS50 in Severe microcephaly


    Level 2: Neurology
    Version 8.31
    Latest signed off version: v8.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Amber
    Phenotypes
    • Neonatal cholestatic liver disease
    • Failure to thrive
    • Profound global developmental delay
    • Postnatal microcephaly
    • Seizures
    • Abnormality of the corpus callosum
    Tags
    • watchlist
    Amber VPS50 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.125
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neonatal cholestatic liver disease
    • Failure to thrive
    • Profound global developmental delay
    • Postnatal microcephaly
    • Seizures
    • Abnormality of the corpus callosum
    Tags
    • watchlist
    Amber VPS50 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    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
    • Neonatal cholestatic liver disease
    • Failure to thrive
    • Profound global developmental delay
    • Postnatal microcephaly
    • Seizures
    • Abnormality of the corpus callosum
    Tags
    • watchlist
    Amber VPS50 in Monogenic short stature


    Level 2: Endocrinology
    Version 1.31
    Latest signed off version: v1.0 (7 Aug 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Amber
    Phenotypes
    • Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis, OMIM:619685
    Tags
    • watchlist