SLC25A4

solute carrier family 25 member 4
OMIM: 103220
PanelMode of inheritanceDetails
8 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R432
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, OMIM:617184
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number, Fontaine progeroid syndrome
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.6
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:
  • - Childhood onset leukodystrophy
Signed-off version 6.4
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 3.0
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:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 4.3
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
R-numbers: R63
Signed-off version 3.105
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:
  • - Childhood onset leukodystrophy
Signed-off version 4.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Mitochondrial Leukoencephalopathy