Parkinson Disease and Complex Parkinsonism
Gene: CHCHD2
Five families with heterozygous variants, segregation evidence for T61I in multiple families. Supporting functional evidence suggesting mitochondrial dysfunction through the genes role in mitochondrial respiratory function.Created: 25 Aug 2020, 10:06 a.m. | Last Modified: 25 Aug 2020, 10:06 a.m.
Panel Version: 1.68
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Parkinson disease 22, autosomal dominant MIM#616710
Publications
Variants in this GENE are reported as part of current diagnostic practice
Monoallelic mutations found in aut dominant PD, in 2 japanese families + 3 sporadic patients (25662902) and 4/1243 sporadic patients (26067110) Rare variants have also been described as a risk factor for sporadic PD (PMID: 26067114). A few negative studies. Keep in the panel as amber gene for PD as only 2 familes described.Created: 14 Dec 2016, 5:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Comment on list classification: Arianna to look into.Created: 8 Dec 2016, 3:43 p.m.
OMIM 616244Created: 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 ancestryCreated: 23 Sep 2016, 2:14 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Parkinson's disease autosomal dominant
Publications
19th Dec 2016: panel revised according to expert review and further curation.
This gene has been classified as Amber List (Moderate Evidence).
Publications for CHCHD2 were set to 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;26067114; 25662902; 26067110
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for CHCHD2 were set to Parkinson disease 22, autosomal dominant;616710
CHCHD2 was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: Literature
CHCHD2 was created by ellenmcdonagh