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 1.147

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 1.311

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


Version 4.43
Latest signed off version: v4.0 (22 Mar 2023)

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


Version 3.21
Latest signed off version: v3.14 (31 Jul 2023)

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


Version 4.47
Latest signed off version: v4.34 (31 Jul 2023)

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


Version 3.18
Latest signed off version: v3.12 (31 Jul 2023)

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


Version 3.78
Latest signed off version: v3.0 (22 Mar 2023)

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