SLC25A4

solute carrier family 25 member 4
OMIM: 103220, ClinGen, DECIPHER

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Red SLC25A4 in Hypertrophic cardiomyopathy_HCM Level 2: Cardiovascular disorders Version 1.0 Component of the following Super Panels: Adult Cardiac SuperPanel Cardiomyopathy_Adult_SuperPanel	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD MIM#617184 Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR MIM#615418 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 MIM#609283
Green SLC25A4 in Mendeliome Version 1.2302	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184 Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, MIM#609283
Green SLC25A4 in Mitochondrial disease Level 2: Metabolic disorders Version 0.969 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184 Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, MIM#609283
Green SLC25A4 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.572	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red SLC25A4 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184 Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, MIM#609283
Green SLC25A4 in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 0.318 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial Leukoencephalopathy
Green SLC25A4 in Rhabdomyolysis and Metabolic Myopathy Level 2: Neurology and neurodevelopmental disorders Version 1.20 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR MIM#615418
Green SLC25A4 in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.196	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green South West GLH NHS GMS Phenotypes Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions Hypertrophic cardiomyopathy Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418 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
Green SLC25A4 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Progressive external ophthalmoplegia
Green SLC25A4 in Fetal anomalies Version 1.313	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184
Red SLC25A4 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184 Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418