DHTKD1

dehydrogenase E1 and transketolase domain containing 1
OMIM: 614984, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green DHTKD1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 2-Aminoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism) 2-Oxoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism) 2-aminoadipic and 2-oxoadipic aciduria, 204750
Green DHTKD1 in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) 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 2-Oxoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism) 2-Aminoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism) 2-aminoadipic and 2-oxoadipic aciduria, 204750
Red DHTKD1 in Possible mitochondrial disorder - nuclear genes Level 2: Mitochondrial Version 4.20 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Phenotypes ?Charcot-Marie-Tooth disease, axonal, type 2Q 615025 2-aminoadipic 2-oxoadipic aciduria, 204750
Amber DHTKD1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber PAGE DD-Gene2Phenotype Phenotypes 2-AMINOADIPIC AND 2-OXOADIPIC ACIDURIA
Green DHTKD1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes 2-AMINOADIPIC AND 2-OXOADIPIC ACIDURIA 204750
Red DHTKD1 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.506	review	Not set	Sources NHS GMS South West GLH Radboud University Medical Center, Nijmegen Phenotypes Charcot Marie Tooth disease, axonal, type 2Q, 615025 2 aminoadipic 2 oxoadipic aciduria, 204750 2 aminoadipic 2 oxoadipic aciduria, 204750
Green DHTKD1 in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) 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 2-aminoadipic 2-oxoadipic aciduria, 204750 Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 2-AMINOADIPIC AND 2-OXOADIPIC ACIDURIA
Red DHTKD1 in Mitochondrial disorders Level 2: Mitochondrial Version 9.41 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes 2-aminoadipic and 2-oxoadipic aciduria, 204750
Green DHTKD1 in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.36 Latest signed off version: v7.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen South West GLH NHS GMS NHS GMS South West GLH Phenotypes ?Charcot-Marie-Tooth disease, axonal, type 2Q, OMIM:615025
Red DHTKD1 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH