Activity
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11 actions
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| Fetal anomalies v5.78 | SNAP25 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: SNAP25. Tag Q1_25_ promote_green was removed from gene: SNAP25. |
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| Fetal anomalies v5.78 | SNAP25 | Achchuthan Shanmugasundram edited their review of gene: SNAP25: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.77 | SNAP25 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SNAP25. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v5.74 | SNAP25 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: SNAP25. Tag Q1_25_ promote_green tag was added to gene: SNAP25. |
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| Fetal anomalies v5.62 | SNAP25 | Achchuthan Shanmugasundram Phenotypes for gene: SNAP25 were changed from Epilepsy and intellectual disability; Myasthenic syndrome, congenital, 18, OMIM:616330 to Myasthenic syndrome, congenital, 18, OMIM:616330 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.16 | SNAP25 | Achchuthan Shanmugasundram commented on gene: SNAP25 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | SNAP25 | Sunayna Best reviewed gene: SNAP25: Rating: GREEN; Mode of pathogenicity: ; Publications: 36379720, 33299146; Phenotypes: Myasthenic syndrome, congenital, 18, MIM#616330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | SNAP25 |
Achchuthan Shanmugasundram Source NHS GMS was added to SNAP25. Mode of inheritance for gene SNAP25 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Myasthenic syndrome, congenital, 18, OMIM:616330 for gene: SNAP25 Publications for gene: SNAP25 were updated from to 33299146; 36379720 |
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| Fetal anomalies v0.9 | SNAP25 | Rebecca Foulger commented on gene: SNAP25: DDG2P rating in original PAGE list: Probable for Epilepsy and intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | SNAP25 | Rebecca Foulger reviewed gene: SNAP25: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | SNAP25 |
Rebecca Foulger gene: SNAP25 was added gene: SNAP25 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SNAP25 were set to Epilepsy and intellectual disability |
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