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Intellectual disability syndromic and non-syndromic

Gene: SLC25A4

Red List (low evidence)

SLC25A4 (solute carrier family 25 member 4)
EnsemblGeneIds (GRCh38): ENSG00000151729
EnsemblGeneIds (GRCh37): ENSG00000151729
OMIM: 103220, Gene2Phenotype
SLC25A4 is in 11 panels

2 reviews

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

Mitochondrial disorder presenting as encephalomyopathy but mostly myopathy.
Created: 10 Dec 2019, 11:07 p.m. | Last Modified: 10 Dec 2019, 11:07 p.m.
Panel Version: 0.1252

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, OMIM #617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, OMIM #615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, OMIM #609283

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Variants in this gene cause both dominant and recessive disease. MIM#617184 reported as causing profound hypotonia and frequent need for respiratory support; the other two conditions, one AR and the other AD, appear less severe. Not convinced ID is an intrinsic part of the phenotype.
Created: 10 Dec 2019, 11:03 p.m. | Last Modified: 10 Dec 2019, 11:03 p.m.
Panel Version: 0.1249

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Details

Mode of Inheritance
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
OMIM
103220
Clinvar variants
Variants in SLC25A4
Penetrance
None
Panels with this gene

History Filter Activity

10 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc25a4 has been classified as Red List (Low Evidence).

10 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC25A4 were changed from to 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

10 Dec 2019, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLC25A4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

10 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc25a4 has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC25A4 was added gene: SLC25A4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC25A4 was set to Unknown