SLC25A4

solute carrier family 25 member 4
OMIM: 103220
PanelMode of inheritanceDetails
7 panels
R-numbers: R135
Signed-off version 1.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418, Disorders of mitochondrial protein transport, Hypertrophic cardiomyopathy, Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283, Disorders of mitochondrial DNA maintenance and integrity
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R81
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
itochondrial myopathy, Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 617184, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 60928
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Progressive External Ophthalmoplegia with Mitochondrial DNADeletions, Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), Disorders of mitochondrial DNA maintenance and integrity, Disorders of mitochondrial protein transport, Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283, Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) 617184, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) 615418, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 609283
R-numbers: R352
Signed-off version 1.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418
R-numbers: R63
Signed-off version 1.17
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial Leukoencephalopathy