VPS11:Ensemblv115

VPS11 core subunit of CORVET and HOPS complexes
OMIM: 608549, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green VPS11 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Leukodystrophy, hypomyelinating, 12, MIM#616683
Tags
  • founder

Red VPS11 in Dystonia - isolated/combined


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Red
Phenotypes
  • Dystonia 32, MIM# 619637
  • Dystonia, adult-onset

Green VPS11 in Leukodystrophy - paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Leukodystrophy, hypomyelinating, 12, MIM#616683
Tags
  • founder

Green VPS11 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Leukodystrophy, hypomyelinating, 12, 616683 (3), Autosomal recessive

Green VPS11 in Prepair 1000+


Level 2: Screening
Version 3.0

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Leukodystrophy, hypomyelinating, 12, 616683 (3), Autosomal recessive
Tags
  • founder

Green VPS11 in Prepair 500+


Level 2: Screening
Version 3.0

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Leukodystrophy, hypomyelinating, 12 MIM#616683