VPS37A

VPS37A, ESCRT-I subunit
OMIM: 609927, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Amber VPS37A in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic paraplegia 53, autosomal recessive, MIM# 614898

Amber VPS37A in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Spastic paraplegia 53, autosomal recessive
  • OMIM #614898

Red VPS37A in Dystonia - complex


Level 2: Neurology and neurodevelopmental disorders
Version 0.235

Component of the following Super Panels:

  • Dystonia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Spastic paraplegia 53, autosomal recessive MIM#614898

    Amber VPS37A in Hereditary Spastic Paraplegia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.76

    Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Royal Melbourne Hospital
    Phenotypes
    • Spastic paraplegia 53, autosomal recessive, MIM# 614898, AR

    Green VPS37A in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Spastic paraplegia 53, autosomal recessive, 614898 (3)

    Red VPS37A in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Mackenzie's Mission
    Phenotypes
    • Spastic paraplegia 53, autosomal recessive, 614898 (3)