Gene Symbol:
COX15
HGNC:2263
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
10q24.2
Filters:

Ambry Genetics classifications

cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
Submitted as: OMIM:615119
AR
04/05/2020
Evaluated
03/02/2021
Submitted

ClinGen classifications

mitochondrial disease
AR
12/04/2023
Evaluated
04/21/2024
Submitted
AR
05/20/2019
Evaluated
04/21/2024
Submitted

Invitae classifications

cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
Submitted as: OMIM:615119
AR
06/07/2021
Evaluated
11/30/2023
Submitted

Orphanet classifications

Leigh syndrome with leukodystrophy
Submitted as: Orphanet:255241
AR
09/14/2021
Evaluated
09/14/2021
Submitted

G2P classifications

Leigh syndrome
Submitted as: OMIM:256000
AR
07/22/2015
Evaluated
09/11/2023
Submitted

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