Genes in panel

Hereditary neuropathy

Gene: PDK3

Red List (low evidence)

PDK3 (pyruvate dehydrogenase kinase 3)
EnsemblGeneIds (GRCh38): ENSG00000067992
EnsemblGeneIds (GRCh37): ENSG00000067992
OMIM: 300906, Gene2Phenotype
PDK3 is in 6 panels

7 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.

Natalie Forrester (SWGLH - Bristol Genetics)

I don't know

2 families and some functional work. PMID: 23297365 (Kennerson et al, 2013) Australian family appears to segregateand some functional work; PMID: 26801680 (Kennerson et al, 2016) Korean family
Created: 29 Apr 2019, 12:30 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
?Charcot Marie Tooth disease, X linked dominant, 6, 300905

Publications

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

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

Richard Scott (Genomics England Curator)

Comment on list classification: Await further evidence before promote to green list
Created: 8 Jul 2016, 4:01 a.m.

Ellen McDonagh (Genomics England Curator)

Comment on publications: Two families have now been reported with the p.R158H mutation, though this is still not enough evidence to be rated green, with only one known Charcot-Marie-Tooth disease-causing variant in this gene reported to date.
Created: 5 May 2016, 9:22 a.m.
Comment on mode of inheritance: Seems to be X-linked dominant (monoallelic mutations in females could cause the disorder).
Created: 5 May 2016, 9:19 a.m.

Alexander Rossor (UCL Institute of Neurology)

I don't know

Now 2 families, likely pathogenic
Created: 16 May 2019, 4:21 p.m.
Single family
Created: 9 Dec 2015, 8:50 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Mary Reilly (Institute of Neurology)

Red List (low evidence)

Single family
Created: 8 Dec 2015, 3:06 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Charcot Marie Tooth disease, X linked dominant, 6, 300905
  • ?Charcot Marie Tooth disease, X linked dominant, 6, 300905
OMIM
300906
Clinvar variants
Variants in PDK3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Jun 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to PDK3.

29 Apr 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes ?Charcot Marie Tooth disease, X linked dominant, 6, 300905 for gene: PDK3 Publications for gene PDK3 were changed from PMID: 23297365 (Kennerson et al, 2013) Australian family; PMID: 26801680 (Kennerson et al, 2016) Korean family to 26801680; 23297365

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PDK3.

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to PDK3.

8 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

5 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

5 May 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for PDK3 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

5 May 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PDK3 were set to PMID: 23297365 (Kennerson et al, 2013) Australian family; PMID: 26801680 (Kennerson et al, 2016) Korean family

5 May 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PDK3 were set to PMID: 23297365 (Kennerson et al, 2013) Australian family; PMID: 26801680 (Kennerson et al, 2016) Korean family

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PDK3 was added to Charcot-Marie-Tooth diseasepanel. Sources: Radboud University Medical Center, Nijmegen