Genes in panel

Hereditary neuropathy

Gene: PDHA1

Green List (high evidence)

PDHA1 (pyruvate dehydrogenase E1 alpha 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000131828
EnsemblGeneIds (GRCh37): ENSG00000131828
OMIM: 300502, Gene2Phenotype
PDHA1 is in 15 panels

6 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
Created: 7 Dec 2019, 6:08 p.m. | Last Modified: 7 Dec 2019, 6:08 p.m.
Panel Version: 1.352
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 5 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Can cause neuropathy but not in isolation ie complex phenotype
Created: 29 Apr 2019, 9:20 a.m.

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

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

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Green review, and a current diagnostic for this reviewer. Is a confirmed DD gene for X-linked Leigh syndrome.
Created: 4 May 2016, 12:03 p.m.

Alexander Rossor (UCL Institute of Neurology)

Episodic lactic acidosis, cerebellar ataxia, neurodevelopmental delay and clinical features resembling Leigh syndrome, neuropathy reported (NCV not reported)
Created: 9 Dec 2015, 8:50 a.m.

Mary Reilly (Institute of Neurology)

Leigh syndrome
Created: 8 Dec 2015, 3:06 p.m.

History Filter Activity

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PDHA1.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to PDHA1. Rating Changed from Green List (high evidence) to Green List (high evidence)

8 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

8 Jul 2016, Gel status: 4

Set Mode of Inheritance

Richard Scott (Genomics England Curator)

Mode of inheritance for PDHA1 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females

4 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PDHA1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list