Fetal anomalies
Gene: PDHB
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
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
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
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: LiteratureCreated: 5 Jul 2019, 7:54 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pyruvate dehydrogenase E1-beta deficiency
Publications
Tag Q2_23_promote_green was removed from gene: PDHB. Tag Q2_23_NHS_review was removed from gene: PDHB.
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)
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
Tag Q2_23_promote_green tag was added to gene: PDHB. Tag Q2_23_NHS_review tag was added to gene: PDHB.
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)
Phenotypes for gene: PDHB were changed from Pyruvate dehydrogenase E1-beta deficiency to Pyruvate dehydrogenase E1-beta deficiency, 614111
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