DHTKD1

dehydrogenase E1 and transketolase domain containing 1
OMIM: 614984
PanelMode of inheritanceDetails
2 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
2-aminoadipic 2-oxoadipic aciduria, 204750, Charcot-Marie-Tooth disease, axonal, type 2Q, 615025, 2-AMINOADIPIC AND 2-OXOADIPIC ACIDURIA