1. Panels
  2. Pyruvate dehydrogenase (PDH) deficiency
  3. SLC25A19
STRs in panel
Prev Next
Regions in panel
Prev Next

Pyruvate dehydrogenase (PDH) deficiency

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

4 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: SLC25A19; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.
Created: 1 Feb 2019, 2:42 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE), 613710; MICROCEPHALY, AMISH TYPE, 607196

Created: 1 Feb 2019, 2:42 p.m.

Panel version: 0.3

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
  • NHS GMS
  • Expert Review Green
Phenotypes
  • MICROCEPHALY, AMISH TYPEOMIM:607196
  • Amish lethal microcephaly MONDO:0011790
  • THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE) OMIM:613710
  • progressive demyelinating neuropathy with bilateral striatal necrosis MONDO:0013382
OMIM
606521
Clinvar variants
Variants in SLC25A19
Penetrance
None
Panels with this gene

History Filter Activity

17 Mar 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SLC25A19 were changed from MICROCEPHALY, AMISH TYPE, 607196; THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE), 613710 to MICROCEPHALY, AMISH TYPEOMIM:607196; Amish lethal microcephaly MONDO:0011790; THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE) OMIM:613710; progressive demyelinating neuropathy with bilateral striatal necrosis MONDO:0013382

1 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: SLC25A19 was added gene: SLC25A19 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS 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 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE), 613710