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  2. Likely inborn error of metabolism
  3. SLC25A42
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Likely inborn error of metabolism

Gene: SLC25A42

Green List (high evidence)
SLC25A42 (solute carrier family 25 member 42)
EnsemblGeneIds (GRCh38): ENSG00000181035
EnsemblGeneIds (GRCh37): ENSG00000181035
OMIM: 610823, Gene2Phenotype
SLC25A42 is in 6 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on phenotypes: Now in OMIM associated with the phenotype Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression.
Created: 5 Jun 2019, 11:29 a.m.
Created: 5 Jun 2019, 11:29 a.m.

Panel version: Imported from Mitochondrial disorders panel version 1.380

Sarah Leigh (Genomics England Curator)

Comment on list classification: Not associated with phenotype in OMIM or in Gen2Phen. However, a founder variant has been reported in Arab populations (rs864321624), together with supportive functional studies. A rare additional variant has also been reported as a compound heterozygous with the founder variant.
Created: 25 Apr 2019, 2:44 p.m.
Created: 25 Apr 2019, 2:44 p.m.

Panel version: Imported from Mitochondrial disorders panel version 1.211

Zornitza Stark (Australian Genomics)

Green List (high evidence)

15 individuals reported to date with bi-allelic variants in this gene. 14/15 had the same homozygous variant (founder effect in Arab population).
Created: 1 Sep 2018, 3:56 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 1 Sep 2018, 3:56 a.m.

Panel version: Imported from Mitochondrial disorders panel version 1.67

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 618416
  • mitochondrial myopathy
OMIM
610823
Clinvar variants
Variants in SLC25A42
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to SLC25A42. Mode of inheritance for gene SLC25A42 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 618416; mitochondrial myopathy for gene: SLC25A42 Publications for gene SLC25A42 were changed from to 26541337; 29923093; 29327420 Rating Changed from Red List (low evidence) to Green List (high evidence)

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: SLC25A42 was added gene: SLC25A42 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SLC25A42 was set to Unknown