VPS13C:Ensemblv115

vacuolar protein sorting 13 homolog C
OMIM: 608879, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green VPS13C in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • autosomal recessive early-onset Parkinson disease 23 MONDO:0014796

Green VPS13C in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Parkinson disease 23, autosomal recessive, early onset MIM#616840