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Fetal anomalies

Gene: PDHB

Green List (high evidence)
PDHB (pyruvate dehydrogenase E1 beta subunit)
EnsemblGeneIds (GRCh38): ENSG00000168291
EnsemblGeneIds (GRCh37): ENSG00000168291
OMIM: 179060, Gene2Phenotype
PDHB is in 8 panels

4 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 10 Oct 2023, 3:39 p.m. | Last Modified: 10 Oct 2023, 3:39 p.m.
Panel Version: 3.111

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 10 Oct 2023, 3:39 p.m.
Last Modified: 10 Oct 2023, 3:39 p.m.
Panel version: 3.111

Stephanie Allen (Birmingham Women's NHS Foundation Trust)

Green List (high evidence)

This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Created: 5 May 2023, 3 p.m. | Last Modified: 5 May 2023, 3 p.m.
Panel Version: 3.8
On 9 panels, inc. fetal anomalies, IEM, severe paediatric disorders. Associated with Pyruvate dehydrogenase E1-beta deficiency (AR). Early onset phenotypes. Similar to PC. Notes on R21: PDHB is not currently associated with a disorder in Gene2Phenotype. Gene was added to the panel and reviewed by Anna de Burca. PMID:26865159 reports a fetus with homozygous variants in PDHB where there was antenatal presentation of pyruvate dehydrogenase deficiency associated with craniofacial features and structural neurological defects. Paper refd above had two cases from same family (one w/ confirmed PDHB variant) with similar neurological anomalies (agenesis of CC, ventricular dilatation, cerebellar hypoplasia, IUGR, microcephaly, paraventricular pseudocysts, and gyral abnormalities).
Created: 5 May 2023, 3 p.m. | Last Modified: 5 May 2023, 3 p.m.
Panel Version: 3.8

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pyruvate dehydrogenase E1-beta deficiency, OMIM:614111

Publications

Created: 5 May 2023, 3 p.m.
Last Modified: 5 May 2023, 3 p.m.
Panel version: 3.8

Rebecca Foulger (Genomics England curator)

PDHB is not currently associated with a disorder in Gene2Phenotype. Gene was added to the panel and reviewed by Anna de Burca.
Created: 12 Aug 2019, 11:23 a.m. | Last Modified: 12 Aug 2019, 11:23 a.m.
Panel Version: 0.336
Created: 12 Aug 2019, 11:23 a.m.
Last Modified: 12 Aug 2019, 11:23 a.m.
Panel version: 0.336

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

I don't know

PMID:26865159 reports a fetus with homozygous variants in PDHB where there was antenatal presentation of pyruvate dehydrogenase deficiency associated with craniofacial features and structural neurological defects.
Sources: Literature
Created: 5 Jul 2019, 7:54 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pyruvate dehydrogenase E1-beta deficiency

Publications

Created: 5 Jul 2019, 7:54 a.m.

Panel version: 0.296

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Pyruvate dehydrogenase E1-beta deficiency, OMIM:614111
OMIM
179060
Clinvar variants
Variants in PDHB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Oct 2023, Gel status: 3

Removed Tag, Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_23_promote_green was removed from gene: PDHB. Tag Q2_23_NHS_review was removed from gene: PDHB.

10 Oct 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to PDHB. Source NHS GMS was added to PDHB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

5 May 2023, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PDHB were changed from Pyruvate dehydrogenase E1-beta deficiency, OMIM:614111; Pyruvate dehydrogenase E1-beta deficiency, 614111 to Pyruvate dehydrogenase E1-beta deficiency, OMIM:614111

5 May 2023, Gel status: 2

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_23_promote_green tag was added to gene: PDHB. Tag Q2_23_NHS_review tag was added to gene: PDHB.

5 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Amber was added to PDHB. Added phenotypes Pyruvate dehydrogenase E1-beta deficiency, OMIM:614111 for gene: PDHB Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

12 Aug 2019, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: PDHB were changed from Pyruvate dehydrogenase E1-beta deficiency to Pyruvate dehydrogenase E1-beta deficiency, 614111

5 Jul 2019, Gel status: 1

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

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

gene: PDHB was added gene: PDHB was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PDHB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDHB were set to 26865159 Phenotypes for gene: PDHB were set to Pyruvate dehydrogenase E1-beta deficiency Review for gene: PDHB was set to AMBER