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Inborn errors of metabolism

Gene: SLC25A12

Green List (high evidence)

SLC25A12 (solute carrier family 25 member 12)
EnsemblGeneIds (GRCh38): ENSG00000115840
EnsemblGeneIds (GRCh37): ENSG00000115840
OMIM: 603667, Gene2Phenotype
SLC25A12 is in 11 panels

4 reviews

Ivone Leong (Genomics England Curator)

This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Created: 23 Sep 2019, 4:07 p.m. | Last Modified: 23 Sep 2019, 4:07 p.m.
Panel Version: 1.277

Sarah Leigh (Genomics England Curator)

Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 biallelic variants reported in unrelated cases.
Created: 25 Apr 2019, 2:20 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Three unrelated families reported in the literature to date; gene encodes a mitochondrial carrier protein.
Created: 1 Sep 2018, 3:46 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 39, MIM#612949

Publications

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

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Inherited white matter disorders
  • Epileptic encephalopathy, early infantile, 39 612949
  • Hypomyelination, global cerebral, 612949
  • Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
OMIM
603667
Clinvar variants
Variants in SLC25A12
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source, Set Phenotypes, Set publications, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to SLC25A12. Added phenotypes Epileptic encephalopathy, early infantile, 39 612949 for gene: SLC25A12 Publications for gene SLC25A12 were changed from 27604308 to 19641205; 27290639; 24515575 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SLC25A12. Source London North GLH was added to SLC25A12.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Hypomyelination, global cerebral, 612949 for gene: SLC25A12

16 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: SLC25A12 was added gene: SLC25A12 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SLC25A12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A12 were set to 27604308 Phenotypes for gene: SLC25A12 were set to Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Inherited white matter disorders