Gene Symbol:
POLG
HGNC:9179
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
15q26.1
Filters:

Definitive classifications

mitochondrial DNA depletion syndrome 4a
Submitted as: OMIM:203700
AR
07/22/2015
Evaluated
11/25/2020
Submitted
mitochondrial DNA depletion syndrome 4a
Submitted as: OMIM:203700
AR
08/14/2017
Evaluated
03/02/2021
Submitted
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Submitted as: OMIM:607459
AR
02/27/2018
Evaluated
03/02/2021
Submitted
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Submitted as: OMIM:157640
AD
02/27/2018
Evaluated
03/02/2021
Submitted

Strong classifications

mitochondrial DNA depletion syndrome 4a
Submitted as: OMIM:203700
AR
06/04/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more

Supportive classifications

mitochondrial DNA depletion syndrome 4a
Submitted as: Orphanet:726
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
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Submitted as: Orphanet:70595
AR
09/14/2021
Evaluated
09/14/2021
Submitted
recessive mitochondrial ataxia syndrome
Submitted as: Orphanet:94125
AR
09/14/2021
Evaluated
09/14/2021
Submitted
spinocerebellar ataxia with epilepsy
Submitted as: Orphanet:254881
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
autosomal dominant progressive external ophthalmoplegia
Submitted as: Orphanet:254892
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

AR
06/30/2021
Evaluated
08/16/2021
Submitted

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