Gene Symbol:
TK2
HGNC:11831
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
16q21
Filters:

Definitive classifications

mitochondrial DNA depletion syndrome, myopathic form
Submitted as: OMIM:609560
AR
07/22/2015
Evaluated
07/01/2021
Submitted
mitochondrial disease
AR
09/06/2023
Evaluated
04/21/2024
Submitted

Strong classifications

mitochondrial DNA depletion syndrome, myopathic form
Submitted as: OMIM:609560
AR
05/09/2023
Evaluated
11/30/2023
Submitted

Supportive classifications

mitochondrial DNA depletion syndrome, myopathic form
Submitted as: Orphanet:254875
AR
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal recessive progressive external ophthalmoplegia
Submitted as: Orphanet:254886
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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