VPS37A:Ensemblv115

VPS37A subunit of ESCRT-I
OMIM: 609927, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red VPS37A in Dystonia - complex


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Spastic paraplegia 53, autosomal recessive MIM#614898

Amber VPS37A in Hereditary Spastic Paraplegia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Amber
Phenotypes
  • Spastic paraplegia 53, autosomal recessive, MIM# 614898, AR

Green VPS37A in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

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

Red VPS37A in Prepair 1000+


Level 2: Screening
Version 3.0

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