Genomics England
GMS Panels
Panels
Genes and Entities

DHTKD1

dehydrogenase E1 and transketolase domain containing 1
OMIM: 614984
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
2-AMINOADIPIC AND 2-OXOADIPIC ACIDURIA 204750
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
?Charcot-Marie-Tooth disease, axonal, type 2Q, OMIM:615025
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
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
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 7.0
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