VPS37A

VPS37A, ESCRT-I subunit
OMIM: 609927, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Red VPS37A in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.152

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Red VPS37A in Hereditary spastic paraplegia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.316

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spastic paraplegia 53, autosomal recessive
Amber VPS37A in Childhood onset hereditary spastic paraplegia


Level 2: Neurology
Version 8.30
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spastic paraplegia 53, 614898, AR
Amber VPS37A in Adult onset hereditary spastic paraplegia


Level 2: Neurology
Version 6.7
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Yorkshire and North East GLH
  • South West GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • Spastic paraplegia 53, autosomal recessive
  • Spastic paraplegia 53, autosomal recessive, 614898, AR
Red VPS37A in Adult onset neurodegenerative disorder


Level 2: Neurology
Version 8.11
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
  • Spastic paraplegia 53, autosomal recessive
Red VPS37A in Adult onset dystonia, chorea or related movement disorder


Level 2: Neurology
Version 5.3
Latest signed off version: v5.0 (30 Apr 2025)

review Not set
Sources
  • NHS GMS
  • South West GLH
  • Expert Review Red
Phenotypes
  • Spastic paraplegia 53, autosomal recessive, 614898
  • Dystonia
Red VPS37A in Childhood onset dystonia, chorea or related movement disorder


Level 2: Neurology
Version 7.13
Latest signed off version: v7.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
Phenotypes
  • Spastic paraplegia 53, autosomal recessive, 614898