Early onset and familial Parkinson's Disease

Gene: CHCHD2

Red List (low evidence)

OMIM 616244

Created: 23 Sep 2016, 2:20 p.m.

Reported variants (Thr61Ile, Arg145Gln, and 300+5G>A) from not seen in IPDGC exome data and noted to be all absent in ExAC - suggest that they are rare and may be Asian-specific (Jansen et al 2015).
However Jansen et al (2015) did identify 3 novel putative pathogenic variants (Ala32Thr, Pro34Leu, and Ile80Val) in gene in 4/1243 cases. They propose that CHCHD2 might be a rare risk factor for people of western European ancestry

Created: 23 Sep 2016, 2:14 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Parkinson's disease autosomal dominant

Publications

• Funayama, M., Ohe, K., Amo, T., Furuya, N., Yamaguchi, J., Saiki, S., Li, Y., Ogaki, K., Ando, M., Yoshino, H., Tomiyama, H., Nishioka, K., and 12 others. CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study. Lancet Neurol. 14: 274-282, 2015.