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  3. DHTKD1
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Hereditary neuropathy

Gene: DHTKD1

Red List (low evidence)
DHTKD1 (dehydrogenase E1 and transketolase domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000181192
EnsemblGeneIds (GRCh37): ENSG00000181192
OMIM: 614984, Gene2Phenotype
DHTKD1 is in 10 panels

5 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 29 Apr 2019, 12:53 p.m.
Created: 29 Apr 2019, 12:53 p.m.

Panel version: 1.63

Natalie Forrester (SWGLH - Bristol Genetics)

Red List (low evidence)

Unable to find any evidence of clear neuropathy association
Created: 29 Apr 2019, 12:30 p.m.

Phenotypes
Charcot Marie Tooth disease, axonal, type 2Q, 615025; 2 aminoadipic 2 oxoadipic aciduria, 204750

Variants in this GENE are reported as part of current diagnostic practice

Created: 29 Apr 2019, 12:30 p.m.

Panel version: 1.58

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Red List (low evidence)

only a single heterozygous nonsense mutation has been reorted in a large Chinese pedigree
Created: 9 Dec 2015, 4:47 p.m.

Variants in this GENE are reported as part of current diagnostic practice

Created: 9 Dec 2015, 4:47 p.m.

Panel version: 0

Alexander Rossor (UCL Institute of Neurology)

Red List (low evidence)

Remove from panel, only single mutation reported was a non-sense mutation but this has been reported as a benign polymorphism in the heterozygous state.
Created: 9 Dec 2015, 8:49 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 9 Dec 2015, 8:49 a.m.

Panel version: 0

Mary Reilly (Institute of Neurology)

Red List (low evidence)

Remove from panel, only single mutation reported was a non-sense mutation but this has been reported as a benign polymorphism in the heterozygous state.
Created: 8 Dec 2015, 3:05 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 8 Dec 2015, 3:05 p.m.

Panel version: 0

Details

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
OMIM
614984
Clinvar variants
Variants in DHTKD1
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: DHTKD1 were changed from Charcot Marie Tooth disease, axonal, type 2Q, 615025; other; 2 aminoadipic 2 oxoadipic aciduria, 204750; 2 aminoadipic 2 oxoadipic aciduria, 204750 to Charcot Marie Tooth disease, axonal, type 2Q, 615025; 2 aminoadipic 2 oxoadipic aciduria, 204750; 2 aminoadipic 2 oxoadipic aciduria, 204750

29 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Charcot Marie Tooth disease, axonal, type 2Q, 615025; 2 aminoadipic 2 oxoadipic aciduria, 204750 for gene: DHTKD1

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to DHTKD1.

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to DHTKD1.

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DHTKD1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Radboud University Medical Center, Nijmegen