SLC25A4

solute carrier family 25 member 4
OMIM: 103220, Gene2Phenotype

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Green SLC25A4 in Other rare neuromuscular disorders Version 19.202 Latest signed off version: v19.1 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Mitochondrial myopathy Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 617184 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 609283
No list SLC25A4 in Sudden death in young people Level 3: Cardiac arrhythmia Level 2: Cardiovascular disorders Version 1.15	review	Not set	Sources Expert Review Removed UKGTN Phenotypes Molecular autopsy Familial Hypertrophic Cardiomyopathy HCM Tags curated_removed
Green SLC25A4 in White matter disorders and cerebral calcification - narrow panel Version 3.35 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial Leukoencephalopathy
Red SLC25A4 in Hypertrophic cardiomyopathy Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 4.7 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Sudden unexplained death or survivors of a cardiac event	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources South West GLH North West GLH Literature Phenotypes Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR (615418) Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD (617184) Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 (609283) Hypertrophic cardiomyopathy
Green SLC25A4 in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.180	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 617184 Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR 615418 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 609283
Green SLC25A4 in Mitochondrial DNA maintenance disorder Version 3.6 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green 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
Red SLC25A4 in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 5.22 Latest signed off version: v5.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes mitochondrial myopathy
Green SLC25A4 in Congenital myopathy Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.37 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, OMIM:617184
Green SLC25A4 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 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 Progressive External Ophthalmoplegia with Mitochondrial DNADeletions
Green SLC25A4 in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green 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 SLC25A4 in Possible mitochondrial disorder - nuclear genes Version 3.105 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green 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
Amber SLC25A4 in Fetal anomalies Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber PAGE DD-Gene2Phenotype Phenotypes Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number
Green SLC25A4 in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green DD-Gene2Phenotype Phenotypes Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number Fontaine progeroid syndrome
Green SLC25A4 in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 4.168 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Expert list Expert 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 SLC25A4 in Paediatric or syndromic cardiomyopathy Version 3.46 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS South West GLH Expert Review Green 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
Red SLC25A4 in Childhood onset dystonia, chorea or related movement disorder Version 3.75 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red London North GLH
Green SLC25A4 in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283 Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184