Activity
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| Fetal anomalies v4.192 | NSRP1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: NSRP1. Tag Q3_24_NHS_review was removed from gene: NSRP1. |
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| Fetal anomalies v4.192 | NSRP1 | Achchuthan Shanmugasundram edited their review of gene: NSRP1: 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 v4.191 | NSRP1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NSRP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.75 | NSRP1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: NSRP1. Tag Q3_24_NHS_review tag was added to gene: NSRP1. |
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| Fetal anomalies v4.36 | NSRP1 | Achchuthan Shanmugasundram commented on gene: NSRP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | NSRP1 | Natalie Chandler reviewed gene: NSRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34385670; Phenotypes: Intellectual disability, Neurodevelopmental disorder, MONDO:0700092, NSRP1-related, Cerebral palsy, microcephaly, Epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | NSRP1 |
Achchuthan Shanmugasundram gene: NSRP1 was added gene: NSRP1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: NSRP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NSRP1 were set to 34385670 Phenotypes for gene: NSRP1 were set to Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities, OMIM:620001 |
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