VPS4A:Ensemblv115

vacuolar protein sorting 4 homolog A
OMIM: 609982, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green VPS4A in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • CIMDAG syndrome MIM# 619273

Green VPS4A in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • CIMDAG syndrome MIM# 619273

Green VPS4A in Dystonia - complex


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • CIMDAG syndrome MIM# 619273

Green VPS4A in Red cell disorders


Level 2: Haematological disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • CIMDAG syndrome MIM# 619273