Activity
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7 actions
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| Fetal anomalies v5.78 | LNPK |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: LNPK. Tag Q1_25_ promote_green was removed from gene: LNPK. |
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| Fetal anomalies v5.78 | LNPK | Achchuthan Shanmugasundram edited their review of gene: LNPK: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.77 | LNPK |
Achchuthan Shanmugasundram Source Expert Review Green was added to LNPK. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v5.74 | LNPK |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: LNPK. Tag Q1_25_ promote_green tag was added to gene: LNPK. |
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| Fetal anomalies v5.16 | LNPK | Achchuthan Shanmugasundram commented on gene: LNPK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | LNPK | Sahar Mansour reviewed gene: LNPK: Rating: GREEN; Mode of pathogenicity: ; Publications: 30032983, 35599435, 37794925; Phenotypes: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM#618090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | LNPK |
Achchuthan Shanmugasundram gene: LNPK was added gene: LNPK was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: LNPK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LNPK were set to 30032983; 35599435; 37794925 Phenotypes for gene: LNPK were set to Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, OMIM:618090 |
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