Inherited white matter disorders

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

2 reviews

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy

Publications

  • Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_601

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

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: At least 3 variants reported in this phenotype.
Created: 6 Jul 2016, 12:39 p.m.
Comment on list classification: Provisionally accepted by UKGTN for Combined leukodystrophy/mitochondrial leukoencephalopathy 94-gene panel (Ian Berry)
Created: 6 Jul 2016, 12:38 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypomyelination, global cerebral 612949
OMIM
603667
Clinvar variants
Variants in SLC25A12
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.

6 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for SLC25A12 were set to Hypomyelination, global cerebral 612949

6 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jul 2016, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for SLC25A12 were set to 27290639; 25655951; 19641205; 24515575

6 Jul 2016, Gel status: 2

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for SLC25A12 was changed to BIALLELIC, autosomal or pseudoautosomal

6 Jul 2016, Gel status: 2

Upload gene information

Sarah Leigh (Genomics England Curator)

SLC25A12 was added to Inherited white matter disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list

5 Apr 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC25A12 was added to Inherited white matter disorderspanel. Sources: Radboud University Medical Center, Nijmegen

5 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SLC25A12 was created by ellenmcdonagh