1. Panels
  2. Likely inborn error of metabolism
  3. SLC25A19
Genes in panel
Prev Next

Likely inborn error of metabolism

Gene: SLC25A19

Green List (high evidence)
SLC25A19 (solute carrier family 25 member 19)
EnsemblGeneIds (GRCh38): ENSG00000125454
EnsemblGeneIds (GRCh37): ENSG00000125454
OMIM: 606521, Gene2Phenotype
SLC25A19 is in 15 panels

3 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 5 Nov 2017, 2:38 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed on G2P and OMIM.
Created: 12 Feb 2016, 12:30 p.m.
Comment on list classification: Both reviewers agree this gene should be promoted from red to green.
Created: 12 Feb 2016, 12:29 p.m.
Created: 12 Feb 2016, 12:29 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0.271

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:33 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.37

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Microcephaly, Amish type, 607196
  • Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710
  • Microcephaly, Amish type (Disorders of thiamine metabolism)
OMIM
606521
Clinvar variants
Variants in SLC25A19
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SLC25A19. Source London North GLH was added to SLC25A19.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Microcephaly, Amish type, 607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710; Microcephaly, Amish type (Disorders of thiamine metabolism) for gene: SLC25A19 Publications for gene SLC25A19 were changed from to 27604308

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: SLC25A19 was added gene: SLC25A19 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A19 were set to Microcephaly, Amish type, 607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710