Incidentalome

Gene: VPS13A

Green List (high evidence)

VPS13A is a well-established gene causative of chorea-acanthocytosis (ChAc).
The presence of an alteration or absence of the transcript A-encoded chorein is sufficient to cause phenotypic symptoms ChAc (PMID: 12404112)
PMID: 12404112 – 39 individuals from multiple unrelated families present with mutations causative of ChAc. 3 probands have mutations have been previously reported as well.
PMID: 15824261 – 3 patients from 2 unrelated families. 2 brothers had the same deletion in exon 46 causative of ChAc and were of Ashkenazi origin.

Created: 29 Mar 2023, 5:48 a.m. | Last Modified: 29 Mar 2023, 5:48 a.m.

Panel Version: 0.223

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Chorea-acanthocytosis (MONDO: 0008695; MIM#200150)

Publications

• 20301561
• 12404112
• 15824261
• 12404112

Green List (high evidence)

Cognitive decline is a reported feature of the condition in >3 cases.

Created: 6 Feb 2020, 7:32 a.m. | Last Modified: 6 Feb 2020, 7:32 a.m.

Panel Version: 0.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Choreoacanthocytosis MIM#200150

Publications

• 26813249
• 15824261
• 30140251
• 31192303