Gene Symbol:
RRM2B
HGNC:17296
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
8q22.3
Filters:

Strong classifications

progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Submitted as: OMIM:613077
AD
04/19/2021
Evaluated
11/30/2023
Submitted
mitochondrial DNA depletion syndrome 8a
Submitted as: OMIM:612075
AR
03/27/2023
Evaluated
11/30/2023
Submitted

Supportive classifications

Kearns-Sayre syndrome
Submitted as: Orphanet:480
AR
09/14/2021
Evaluated
09/14/2021
Submitted
mitochondrial neurogastrointestinal encephalomyopathy
Submitted as: Orphanet:298
AR
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal dominant progressive external ophthalmoplegia
Submitted as: Orphanet:254892
AD
09/14/2021
Evaluated
09/14/2021
Submitted
mitochondrial DNA depletion syndrome 8a
Submitted as: Orphanet:255235
AR
09/14/2021
Evaluated
09/14/2021
Submitted
adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Submitted as: Orphanet:329336
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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