Undiagnosed metabolic disorders
Gene: SLC25A12EnsemblGeneIds (GRCh38): ENSG00000115840
EnsemblGeneIds (GRCh37): ENSG00000115840
OMIM: 603667, Gene2Phenotype
SLC25A12 is in 9 panels
2 reviews
Ivone Leong (Genomics England Curator)
Comment on list classification: Promoted from Amber to Green. Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 biallelic variants reported in unrelated cases.Created: 23 Sep 2019, 4:10 p.m. | Last Modified: 23 Sep 2019, 4:10 p.m.
Panel Version: 1.310
Sarah Leigh (Genomics England Curator)
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)Created: 6 Jan 2017, 2:03 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)Created: 6 Jan 2017, 2:01 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Inherited white matter disorders
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Inherited white matter disorders
- Epileptic encephalopathy, early infantile, 39 612949
- Hypomyelination, global cerebral, 612949
- OMIM
- 603667
- Clinvar variants
- Variants in SLC25A12
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- Early onset or syndromic epilepsy
- Inherited white matter disorders
History Filter Activity
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: slc25a12 has been classified as Green List (High Evidence).
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: SLC25A12 were changed from Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Inherited white matter disorders to Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Inherited white matter disorders; Epileptic encephalopathy, early infantile, 39 612949; Hypomyelination, global cerebral, 612949
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: SLC25A12 were set to 27604308
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added
Set Mode of Inheritance, Added New Source
Sarah Leigh (Genomics England Curator)SLC25A12 was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Amber Model of inheritance for gene SLC25A12 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Sarah Leigh (Genomics England Curator)SLC25A12 was added to Undiagnosed metabolic disorderspanel. Sources: Literature
Created
Sarah Leigh (Genomics England Curator)SLC25A12 was created by sleigh