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Molecular autopsy

Gene: SLC25A15

Green List (high evidence)
SLC25A15 (solute carrier family 25 member 15)
EnsemblGeneIds (GRCh38): ENSG00000102743
EnsemblGeneIds (GRCh37): ENSG00000102743
OMIM: 603861, Gene2Phenotype
SLC25A15 is in 9 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970
  • HHH syndrome (Urea cycle disorders and inherited hyperammonaemias)
OMIM
603861
Clinvar variants
Variants in SLC25A15
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970; HHH syndrome (Urea cycle disorders and inherited hyperammonaemias) for gene: SLC25A15

20 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: SLC25A15 was added gene: SLC25A15 was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A15 were set to 27604308 Phenotypes for gene: SLC25A15 were set to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970; HHH syndrome (Urea cycle disorders and inherited hyperammonaemias)