Activity
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| Fetal anomalies v4.192 | PLPBP |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PLPBP. Tag Q3_24_NHS_review was removed from gene: PLPBP. |
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| Fetal anomalies v4.192 | PLPBP | Achchuthan Shanmugasundram edited their review of gene: PLPBP: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.191 | PLPBP |
Achchuthan Shanmugasundram Source NHS GMS was added to PLPBP. Source Expert Review Green was added to PLPBP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.83 | PLPBP | Achchuthan Shanmugasundram Phenotypes for gene: PLPBP were changed from Vitamin-B6-Dependent Epilepsy to Epilepsy, early-onset, vitamin B6-dependent, OMIM:617290 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.82 | PLPBP | Achchuthan Shanmugasundram Publications for gene: PLPBP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.81 | PLPBP |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PLPBP. Tag Q3_24_NHS_review tag was added to gene: PLPBP. |
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| Fetal anomalies v4.36 | PLPBP | Achchuthan Shanmugasundram commented on gene: PLPBP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | PLPBP | Denise Williams reviewed gene: PLPBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 31741821, 30668673, 27912044; Phenotypes: Epilepsy, early-onset, vitamin B6-dependent, OMIM:617290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PLPBP | Rebecca Foulger reviewed gene: PLPBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | PLPBP |
Rebecca Foulger gene: PLPBP was added gene: PLPBP was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PLPBP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLPBP were set to Vitamin-B6-Dependent Epilepsy |
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