Gene Symbol:
SLC25A4
HGNC:10990
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
4q35.1
Filters:

Definitive classifications

mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
AR
08/30/2017
Evaluated
08/16/2021
Submitted

Strong classifications

mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
Submitted as: OMIM:615418
AR
09/18/2021
Evaluated
02/03/2022
Submitted

Moderate classifications

mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
Submitted as: OMIM:615418
AR
04/23/2018
Evaluated
12/24/2020
Submitted
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
Submitted as: OMIM:609283
AD
04/23/2018
Evaluated
12/24/2020
Submitted
mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
Submitted as: OMIM:617184
AD
07/31/2018
Evaluated
12/24/2020
Submitted

Supportive classifications

Sengers syndrome
Submitted as: Orphanet:1369
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

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