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Genetic epilepsy syndromes

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 16 panels

4 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

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
Pyruvate dehydrogenase E1-alpha deficiency, 312170

Publications

Eleanor Williams (Genomics England Curator)

Comment when marking as ready: Sufficient cases.
Created: 20 Nov 2018, 5:36 p.m.
Comment on list classification: > 3 cases of patients with variants in this gene with Pyruvate dehydrogenase E1-alpha deficiency and with seizures as part of the phenotype.
Created: 20 Nov 2018, 5:34 p.m.
Comment on mode of inheritance: Heterozygous mutations seen in females showing phenotype.
Created: 20 Nov 2018, 5:29 p.m.
Comment on phenotypes: Seizures are listed as part of the phenotype for X-LINKED LEIGH SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES and INTELLECTUAL DISABILTIY in Gene2Phenotype
Created: 20 Nov 2018, 5:27 p.m.
PDHA1 is associated with Pyruvate dehydrogenase E1-alpha deficiency in OMIM and PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES, X-LINKED LEIGH SYNDROME and INTELLECTUAL DISABILTIY in Gene2Phenotype.

Lissens et al 1996 (PMID: 8664900) - patient 2 (female) reported to have seizures and a variant resulting in R302C in PDHA1.

Lissens et al 2000 (PMID: 10679936) - summarizes the multiple variants in PDHA1 found in patients with phenotypes including epilepsy.
Created: 20 Nov 2018, 5:23 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

XLD. Seizures are part of the phenotype of this metabolic disorder.
Created: 18 Aug 2018, 10:12 a.m.

Mode of inheritance
Other

Phenotypes
Pyruvate dehydrogenase E1-alpha deficiency, MIM#312170

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

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
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pyruvate dehydrogenase E1-alpha deficiency 312170
  • X-LINKED LEIGH SYNDROME
  • PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES
  • INTELLECTUAL DISABILTIY
OMIM
300502
Clinvar variants
Variants in PDHA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to PDHA1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to PDHA1.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: XLD. Seizures are part of the

20 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: pdha1 has been classified as Green List (High Evidence).

20 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: pdha1 has been classified as Green List (High Evidence).

20 Nov 2018, Gel status: 2

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: PDHA1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

20 Nov 2018, Gel status: 2

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: PDHA1 were changed from to Pyruvate dehydrogenase E1-alpha deficiency 312170; X-LINKED LEIGH SYNDROME; PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES; INTELLECTUAL DISABILTIY

20 Nov 2018, Gel status: 2

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: PDHA1 were set to

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to PDHA1. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

PDHA1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

PDHA1 was created by Sarah Leigh