Structural basal ganglia disorders
Gene: DLAT
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
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.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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.
Mode of inheritance for DLAT was changed to BIALLELIC, autosomal or pseudoautosomal
promoted 16/03/2017
This gene has been classified as Green List (High Evidence).
Publications for DLAT were set to 19891062; 16049940
Phenotypes for DLAT were set to Pyruvate dehydrogenase E2 deficiency 245348
This gene has been classified as Green List (High Evidence).
DLAT was added to Structural basal ganglia disorderspanel. Sources: Literature
DLAT was created by Manju