Activity
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| Fetal anomalies v4.192 | GPX4 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: GPX4. Tag Q3_24_NHS_review was removed from gene: GPX4. |
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| Fetal anomalies v4.192 | GPX4 | Achchuthan Shanmugasundram commented on gene: GPX4: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.191 | GPX4 |
Achchuthan Shanmugasundram Source NHS GMS was added to GPX4. Source Expert Review Green was added to GPX4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.60 | GPX4 | Achchuthan Shanmugasundram Publications for gene: GPX4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.59 | GPX4 | Achchuthan Shanmugasundram Phenotypes for gene: GPX4 were changed from SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE to Spondylometaphyseal dysplasia, Sedaghatian type, OMIM:250220 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.58 | GPX4 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: GPX4. Tag Q3_24_NHS_review tag was added to gene: GPX4. |
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| Fetal anomalies v4.36 | GPX4 | Achchuthan Shanmugasundram commented on gene: GPX4: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | GPX4 | Achchuthan Shanmugasundram reviewed gene: GPX4: Rating: GREEN; Mode of pathogenicity: ; Publications: 24706940, 32827718; Phenotypes: Spondylometaphyseal dysplasia, Sedaghatian type MIM#250220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GPX4 | Rebecca Foulger reviewed gene: GPX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | GPX4 |
Rebecca Foulger gene: GPX4 was added gene: GPX4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: GPX4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GPX4 were set to SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE |
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