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Hereditary neuropathy NOT PMP22 copy number

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 11 panels

6 reviews

Zornitza Stark (Australian Genomics)

I don't know

One multigenerational family reported plus another individual in a large CMT cohort; animal model. The variant reported in the Chinese family has been reported x1 gnomad, which does not necessarily make it 'benign'. Having said that, the gene is not constrained for LoF variants.
Created: 31 Mar 2020, 8:58 a.m. | Last Modified: 31 Mar 2020, 8:58 a.m.
Panel Version: 1.4

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2Q, MIM#615025

Publications

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.

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

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

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

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

Details

Sources
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • NHS GMS
  • NHS GMS
  • South West GLH
Phenotypes
  • Charcot Marie Tooth disease, axonal, type 2Q, 615025
  • 2 aminoadipic 2 oxoadipic aciduria, 204750
OMIM
614984
Clinvar variants
Variants in DHTKD1
Penetrance
None
Panels with this gene

History Filter Activity

5 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: DHTKD1 was added gene: DHTKD1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: DHTKD1 was set to Phenotypes for gene: DHTKD1 were set to Charcot Marie Tooth disease, axonal, type 2Q, 615025; 2 aminoadipic 2 oxoadipic aciduria, 204750