VPS13C

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green VPS13C in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

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

Green VPS13C in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Early-onset Parkinson disease-23, MIM# 616840

Green VPS13C in Mitochondrial disease


Level 2: Metabolic disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Early-onset Parkinson disease-23, MIM# 616840