Structural basal ganglia disorders
Gene: SLC25A19EnsemblGeneIds (GRCh38): ENSG00000125454
EnsemblGeneIds (GRCh37): ENSG00000125454
OMIM: 606521, Gene2Phenotype
SLC25A19 is in 15 panels
5 reviews
Carl Fratter (Oxford University Hospitals NHS Trust)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotypes in OMIM and as a confirmed G2P for Microcephaly, Amish type 607196. At least 2 variants reported together with supporting in vitro data.Created: 14 Mar 2017, 3:22 p.m.
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Microcephaly, Amish type 607196
- Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) 613710
- OMIM
- 606521
- Clinvar variants
- Variants in SLC25A19
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- DDG2P
- Pyruvate dehydrogenase (PDH) deficiency
- Likely inborn error of metabolism
- Hereditary neuropathy or pain disorder
- Possible mitochondrial disorder - nuclear genes
- Early onset or syndromic epilepsy
- Fetal anomalies
- Severe microcephaly
- Undiagnosed metabolic disorders
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)promoted 16/03/2017
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for SLC25A19 were set to Microcephaly, Amish type 607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) 613710
Set publications
Sarah Leigh (Genomics England Curator)Publications for SLC25A19 were set to 17035501; 12185364; 19798730
Created
Manju Kurian (UCL-Institute of Child Health)SLC25A19 was created by Manju
Added New Source
Manju Kurian (UCL-Institute of Child Health)SLC25A19 was added to Structural basal ganglia disorderspanel. Sources: Literature