Activity
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| Fetal anomalies v4.192 | PGAP1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PGAP1. Tag Q3_24_NHS_review was removed from gene: PGAP1. |
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| Fetal anomalies v4.192 | PGAP1 | Achchuthan Shanmugasundram edited their review of gene: PGAP1: 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 | PGAP1 |
Achchuthan Shanmugasundram Source NHS GMS was added to PGAP1. Source Expert Review Green was added to PGAP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.80 | PGAP1 | Achchuthan Shanmugasundram Phenotypes for gene: PGAP1 were changed from Intellectual disability, encephalopathy, impaired GPI-anchor maturation to Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, OMIM:615802 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.79 | PGAP1 | Achchuthan Shanmugasundram Publications for gene: PGAP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.78 | PGAP1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PGAP1. Tag Q3_24_NHS_review tag was added to gene: PGAP1. |
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| Fetal anomalies v4.36 | PGAP1 | Achchuthan Shanmugasundram commented on gene: PGAP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | PGAP1 | Denise Williams reviewed gene: PGAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24482476, 25823418, 25804403, 26050939, 24784135; Phenotypes: Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, OMIM:615802; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PGAP1 | Rebecca Foulger reviewed gene: PGAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | PGAP1 |
Rebecca Foulger gene: PGAP1 was added gene: PGAP1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PGAP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PGAP1 were set to Intellectual disability, encephalopathy, impaired GPI-anchor maturation |
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