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Hereditary neuropathy NOT PMP22 copy number

Gene: PDK3

Amber List (moderate evidence)

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

8 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

One Australian, one Korean family identified with same variant. Additional case reported in a cohort of neuropathy patients, different variant. Some functional data.
Created: 1 Apr 2020, 9:30 a.m. | Last Modified: 1 Apr 2020, 9:30 a.m.
Panel Version: 1.4

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

Phenotypes
Charcot-Marie-Tooth disease, X-linked dominant, 6 MIM#300905; HMSN

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)

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 Amber
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • London North GLH
  • NHS GMS
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • ?Charcot Marie Tooth disease, X linked dominant, 6, 300905
OMIM
300906
Clinvar variants
Variants in PDK3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: pdk3 has been classified as Amber List (Moderate Evidence).

5 Dec 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: PDK3 was added gene: PDK3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: PDK3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: PDK3 were set to 26801680; 23297365 Phenotypes for gene: PDK3 were set to ?Charcot Marie Tooth disease, X linked dominant, 6, 300905