DLD

dihydrolipoamide dehydrogenase
OMIM: 238331, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Red DLD in Hyperammonaemia Level 3: Urea Cycle disorders Level 2: Metabolic disorders Version 1.22	review	Not set	Sources Emory Genetics Laboratory
Green DLD in Pyruvate dehydrogenase (PDH) deficiency Level 2: Mitochondrial Version 1.40 Latest signed off version: v1.39 (6 May 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Dihydrolipoamide dehydrogenase deficiency, OMIM:246900 pyruvate dehydrogenase E3 deficiency MONDO:0009529
Green DLD in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.645	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dihydrolipoamide dehydrogenase deficiency, OMIM:246900 Dihydrolipoyl dehydrogenase deficiency (Disorders of pyruvate metabolism) Leigh syndrome
Green DLD in Likely inborn error of metabolism Level 2: Metabolic Version 9.4 Latest signed off version: v9.0 (6 May 2026) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Dihydrolipoamide dehydrogenase deficiency, OMIM:246900 Dihydrolipoyl dehydrogenase deficiency (Disorders of pyruvate metabolism) Leigh syndrome
Green DLD in Possible mitochondrial disorder - nuclear genes Level 2: Mitochondrial Version 5.4 Latest signed off version: v5.0 (6 May 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Dihydrolipoamide dehydrogenase deficiency, OMIM:246900
Red DLD in Fetal anomalies Level 2: Fetal (including NIPD) Version 7.7 Latest signed off version: v7.0 (6 May 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes Dihydrolipoamide dehydrogenase deficiency, OMIM:246900
Green DLD in DDG2P Version 7.1 Latest signed off version: v7.0 (6 May 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DIHYDROLIPOAMIDE DEHYDROGENASE (E3) DEFICIENCY 248600 LEIGH SYNDROME 256000
Green DLD in Intellectual disability Level 2: Developmental disorders Version 10.17 Latest signed off version: v10.0 (6 May 2026) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Dihydrolipoamide dehydrogenase deficiency, OMIM:246900
Green DLD in Mitochondrial disorders Level 2: Mitochondrial Version 10.4 Latest signed off version: v10.0 (6 May 2026) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Dihydrolipoamide dehydrogenase deficiency, OMIM:246900 Leigh syndrome
Red DLD in Hereditary neuropathy or pain disorder Level 2: Neurology Version 8.1 Latest signed off version: v8.0 (6 May 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes Dihydrolipoamide dehydrogenase deficiency, OMIM:246900 hepatic dysfunction sensory axonal neuropathy
Green DLD in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 8.3 Latest signed off version: v8.0 (6 May 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH Phenotypes Dihydrolipoamide dehydrogenase deficiency, OMIM:246900