Structural basal ganglia disorders

Gene: DLAT

Green List (high evidence)

DLAT (dihydrolipoamide S-acetyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000150768
EnsemblGeneIds (GRCh37): ENSG00000150768
OMIM: 608770, Gene2Phenotype
DLAT is in 13 panels

5 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

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)

Green List (high evidence)

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)

Green List (high evidence)

History Filter Activity

22 Sep 2017, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

16 Mar 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

promoted 16/03/2017

2 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

2 Mar 2017, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for DLAT were set to 19891062; 16049940

2 Mar 2017, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for DLAT were set to Pyruvate dehydrogenase E2 deficiency 245348

2 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

1 Mar 2017, Gel status: 0

Added New Source

Manju Kurian (UCL-Institute of Child Health)

DLAT was added to Structural basal ganglia disorderspanel. Sources: Literature

1 Mar 2017, Gel status: 0

Created

Manju Kurian (UCL-Institute of Child Health)

DLAT was created by Manju