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| Fetal anomalies v3.111 | PDHX |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: PDHX. Tag Q2_23_NHS_review was removed from gene: PDHX. |
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| Fetal anomalies v3.111 | PDHX | Sarah Leigh reviewed gene: PDHX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.110 | PDHX |
Sarah Leigh Source Expert Review Green was added to PDHX. Source NHS GMS was added to PDHX. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v3.47 | PDHX | Arina Puzriakova Phenotypes for gene: PDHX were changed from LACTICACIDEMIA DUE TO PDX1 DEFICIENCY; Lacticacidemia due to PDX1 deficiency, OMIM:245349 to Lacticacidemia due to PDX1 deficiency, OMIM:245349 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.46 | PDHX | Arina Puzriakova Publications for gene: PDHX were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.45 | PDHX |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: PDHX. Tag Q2_23_NHS_review tag was added to gene: PDHX. |
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| Fetal anomalies v3.8 | PDHX | Stephanie Allen commented on gene: PDHX: 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 | PDHX | Stephanie Allen reviewed gene: PDHX: Rating: GREEN; Mode of pathogenicity: ; Publications: 20002125, 34873726; Phenotypes: Lacticacidemia due to PDX1 deficiency, OMIM:245349; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.7 | PDHX |
Arina Puzriakova Source Expert Review Amber was added to PDHX. Added phenotypes Lacticacidemia due to PDX1 deficiency, OMIM:245349 for gene: PDHX Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v0.311 | PDHX | Rebecca Foulger edited their review of gene: PDHX: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.310 | PDHX |
Rebecca Foulger Source Expert Review Red was added to PDHX. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.9 | PDHX | Rebecca Foulger reviewed gene: PDHX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | PDHX |
Rebecca Foulger gene: PDHX was added gene: PDHX was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PDHX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDHX were set to LACTICACIDEMIA DUE TO PDX1 DEFICIENCY |
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