Gene Symbol:
CHCHD10
HGNC:15559
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
22q11.23
Filters:

Definitive classifications

mitochondrial disease
AD
05/18/2023
Evaluated
04/21/2024
Submitted

Strong classifications

autosomal dominant mitochondrial myopathy with exercise intolerance
Submitted as: OMIM:616209
AD
01/28/2021
Evaluated
03/31/2021
Submitted
lower motor neuron syndrome with late-adult onset
Submitted as: OMIM:615048
AD
01/04/2021
Evaluated
03/31/2021
Submitted
frontotemporal dementia and/or amyotrophic lateral sclerosis 2
Submitted as: OMIM:615911
AD
02/05/2018
Evaluated
03/02/2021
Submitted
frontotemporal dementia and/or amyotrophic lateral sclerosis 2
Submitted as: OMIM:615911
AD
03/23/2021
Evaluated
11/30/2023
Submitted
lower motor neuron syndrome with late-adult onset
Submitted as: OMIM:615048
AD
06/30/2022
Evaluated
11/30/2023
Submitted

Moderate classifications

frontotemporal dementia and/or amyotrophic lateral sclerosis 2
AD
09/13/2022
Evaluated
04/21/2024
Submitted

Supportive classifications

amyotrophic lateral sclerosis
Submitted as: Orphanet:803
AD
09/14/2021
Evaluated
09/14/2021
Submitted
frontotemporal dementia with motor neuron disease
Submitted as: Orphanet:275872
AD
09/14/2021
Evaluated
09/14/2021
Submitted
lower motor neuron syndrome with late-adult onset
Submitted as: Orphanet:276435
AD
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal dominant mitochondrial myopathy with exercise intolerance
Submitted as: Orphanet:457050
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

autosomal dominant mitochondrial myopathy with exercise intolerance
Submitted as: OMIM:616209
AD
07/11/2022
Evaluated
11/30/2023
Submitted

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