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Severe Paediatric Disorders

Gene: DHTKD1

Green List (high evidence)

DHTKD1 (dehydrogenase E1 and transketolase domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000181192
EnsemblGeneIds (GRCh37): ENSG00000181192
OMIM: 614984, Gene2Phenotype
DHTKD1 is in 11 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: DHTKD1; Recommended initial gene rating: Green List (high evidence); Phenotypes: 2-aminoadipic 2-oxoadipic aciduria, 204750 (3) | ?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 (3); Mode of inheritance: Autosomal recessive | Autosomal dominant
Created: 20 Feb 2020, 5:18 p.m. | Last Modified: 20 Feb 2020, 5:18 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • 2-aminoadipic 2-oxoadipic aciduria, 204750
  • ?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025
OMIM
614984
Clinvar variants
Variants in DHTKD1
Penetrance
None
Publications
Panels with this gene

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