1. Panels
  2. Childhood onset dystonia, chorea or related movement disorder
  3. DLD
Genes in panel
Prev Next
Regions in panel
Prev Next

Childhood onset dystonia, chorea or related movement disorder

Gene: DLD

Green List (high evidence)
DLD (dihydrolipoamide dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000091140
EnsemblGeneIds (GRCh37): ENSG00000091140
OMIM: 238331, Gene2Phenotype
DLD is in 11 panels

1 review

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Suggested by Huw and Raquel
Created: 9 Jul 2019, 4:24 p.m. | Last Modified: 9 Jul 2019, 4:24 p.m.
Panel Version: 0.9
Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

History Filter Activity

9 Oct 2025, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: DLD were changed from Dihydrolipoamide dehydrogenase deficiency, 246900 to Dihydrolipoamide dehydrogenase deficiency, OMIM:246900

8 Dec 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: DLD were changed from Dihydrolipoamide dehydrogenase deficiency to Dihydrolipoamide dehydrogenase deficiency, 246900

6 Dec 2019, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene: DLD were changed from to Dihydrolipoamide dehydrogenase deficiency

6 Dec 2019, Gel status: 3

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: DLD was changed from to BIALLELIC, autosomal or pseudoautosomal

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: DLD was added gene: DLD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: DLD was set to