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  2. Hereditary Neuropathy_CMT - isolated
  3. DHTKD1
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Hereditary Neuropathy_CMT - isolated

Gene: DHTKD1

Amber List (moderate evidence)
DHTKD1 (dehydrogenase E1 and transketolase domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000181192
EnsemblGeneIds (GRCh37): ENSG00000181192
OMIM: 614984, Gene2Phenotype
DHTKD1 is in 6 panels

3 reviews

Ain Roesley (Victorian Clinical Genetics Services)

Comment when marking as ready: green for AR, amber for AD
Created: 9 May 2022, 12:35 a.m. | Last Modified: 9 May 2022, 12:35 a.m.
Panel Version: 0.13946
Created: 9 May 2022, 12:35 a.m.
Last Modified: 9 May 2022, 12:35 a.m.
Panel version: Imported from Mendeliome panel version 0.13946

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

>10 cases with biallelic variants reported and null mouse model has severe metabolic abnormalities
Sources: NHS GMS
Created: 8 Feb 2021, 3:15 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
2-aminoadipic 2-oxoadipic aciduria MIM#204750; Disorders of histidine, tryptophan or lysine metabolism

Publications

Created: 8 Feb 2021, 3:15 a.m.

Panel version: Imported from Mendeliome panel version Imported from Miscellaneous Metabolic Disorders panel version 0.310

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Comment on list classification: Two unrelated families and animal model. Note bi-allelic variants are associated with a metabolic disorder.
Created: 23 Dec 2019, 11:23 p.m. | Last Modified: 13 May 2021, 10:16 a.m.
Panel Version: 0.165
One multigenerational family reported plus another individual in a large CMT cohort; animal model.
Created: 23 Dec 2019, 11:22 p.m. | Last Modified: 23 Dec 2019, 11:22 p.m.
Panel Version: 0.2

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 23 Dec 2019, 11:22 p.m.
Last Modified: 13 May 2021, 10:16 a.m.
Panel version: Imported from Peripheral Neuropathy_CMT panel version 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Amber
  • NHS GMS
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • HMSN
  • Charcot Marie Tooth disease, axonal, type 2Q, 615025
  • 2 aminoadipic 2 oxoadipic aciduria, 204750
OMIM
614984
Clinvar variants
Variants in DHTKD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 May 2021, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DHTKD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

13 May 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dhtkd1 has been classified as Amber List (Moderate Evidence).

13 May 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DHTKD1 were set to

13 Jan 2020, Gel status: 2

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

Bryony Thompson (Royal Melbourne Hospital)

gene: DHTKD1 was added gene: DHTKD1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber Mode of inheritance for gene: DHTKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DHTKD1 were set to HMSN; Charcot Marie Tooth disease, axonal, type 2Q, 615025; 2 aminoadipic 2 oxoadipic aciduria, 204750