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| Fetal anomalies v3.111 | PDHB |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: PDHB. Tag Q2_23_NHS_review was removed from gene: PDHB. |
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| Fetal anomalies v3.111 | PDHB | Sarah Leigh reviewed gene: PDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.110 | PDHB |
Sarah Leigh 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) |
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| Fetal anomalies v3.45 | PDHB | Arina Puzriakova 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.44 | PDHB |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: PDHB. Tag Q2_23_NHS_review tag was added to gene: PDHB. |
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| Fetal anomalies v3.8 | PDHB | Stephanie Allen commented on gene: PDHB: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.8 | PDHB | Stephanie Allen reviewed gene: PDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: 26865159; Phenotypes: Pyruvate dehydrogenase E1-beta deficiency, OMIM:614111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.7 | PDHB |
Arina Puzriakova 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) |
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| Fetal anomalies v0.336 | PDHB | Rebecca Foulger commented on gene: PDHB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.336 | PDHB | Rebecca Foulger Phenotypes for gene: PDHB were changed from Pyruvate dehydrogenase E1-beta deficiency to Pyruvate dehydrogenase E1-beta deficiency, 614111 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.296 | PDHB |
Anna de Burca 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 Added comment: 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 |
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