Structural basal ganglia disorders
Gene: DLATEnsemblGeneIds (GRCh38): ENSG00000150768
EnsemblGeneIds (GRCh37): ENSG00000150768
OMIM: 608770, Gene2Phenotype
DLAT is in 13 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 phenotype in OMIM and as a confirmed G2P. At 3 least variants reported 3 cases.Created: 2 Mar 2017, 1:30 p.m.
Comment on publications: P.J.K. Freisinger, J. Mayr, C. Makowski, et al.
Pyruvate dehydrogenase complex (PDHC) deficiency due to a new mutation in dihydrolipoamide acetyltransferase (E2)
Mol Genet Metab, 98 (2009), p. 99 (poster 522)Created: 2 Mar 2017, 1:29 p.m.
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Changed to biallelic - encoded on chromosome 11.Created: 22 Sep 2017, 12:48 p.m.
Comment on mode of inheritance: Confirmed on G2P and OMIM.Created: 10 Feb 2016, 12:06 p.m.
Comment on list classification: Both reviewers agree this should be promoted from red to green. It is a confirmed DD gene for pyruvate dehydrogenase E2 deficiency.Created: 10 Feb 2016, 12:06 p.m.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Pyruvate dehydrogenase E2 deficiency 245348
- OMIM
- 608770
- Clinvar variants
- Variants in DLAT
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Fetal anomalies
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Pyruvate dehydrogenase (PDH) deficiency
- Likely inborn error of metabolism
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
History Filter Activity
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for DLAT was changed to BIALLELIC, autosomal or pseudoautosomal
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).
Set publications
Sarah Leigh (Genomics England Curator)Publications for DLAT were set to 19891062; 16049940
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for DLAT were set to Pyruvate dehydrogenase E2 deficiency 245348
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Manju Kurian (UCL-Institute of Child Health)DLAT was added to Structural basal ganglia disorderspanel. Sources: Literature
Created
Manju Kurian (UCL-Institute of Child Health)DLAT was created by Manju