Genomics England

SLC25A4

solute carrier family 25 member 4

Panel	Mode of inheritance	Details
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Green in Congenital myopathy Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R81 Signed-off version 4.33	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 3.79	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number, Fontaine progeroid syndrome
Green in Likely inborn error of metabolism - targeted testing not possible 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 4.78	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
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 4.114	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
Green in Mitochondrial DNA maintenance disorder 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
Green in Paediatric or syndromic cardiomyopathy Component of the following Super Panels: - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R135 Signed-off version 3.44	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
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.69	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
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 3.24	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Mitochondrial Leukoencephalopathy