VPS13C

vacuolar protein sorting 13 homolog C
OMIM: 608879, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
No list VPS13C in Parkinson Disease and Complex Parkinsonism Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.121	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Parkinson disease 23, autosomal recessive, early onset MIM#616840
Amber VPS13C in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Yorkshire and North East GLH Expert Review Amber Phenotypes Parkinson disease 23, autosomal recessive, early onset, OMIM:616840
Red VPS13C in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	Unknown	Sources Expert Review Red Expert Review Red Victorian Clinical Genetics Services
Red VPS13C in Possible mitochondrial disorder - nuclear genes Version 3.105 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Phenotypes Parkinson disease 23, autosomal recessive, early onset, 616840
Red VPS13C in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 4.169 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Parkinson disease 23, autosomal recessive, early onset, 616840