Activity
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6 actions
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| Fetal anomalies v5.16 | NSUN2 | Achchuthan Shanmugasundram commented on gene: NSUN2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | NSUN2 | Samantha Doyle reviewed gene: NSUN2: Rating: RED; Mode of pathogenicity: ; Publications: 38643142, 37305761, 33002343, 36420349; Phenotypes: Intellectual developmental disorder, autosomal recessive 5, MIM#611091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | NSUN2 |
Achchuthan Shanmugasundram Source NHS GMS was added to NSUN2. Source Expert Review Red was added to NSUN2. Added phenotypes Intellectual developmental disorder, autosomal recessive 5, OMIM:611091 for gene: NSUN2 Publications for gene: NSUN2 were updated from to 37305761; 36420349; 38643142; 33002343 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Fetal anomalies v0.9 | NSUN2 | Rebecca Foulger commented on gene: NSUN2: DDG2P rating in original PAGE list: Probable for AUTOSOMAL- RECESSIVE INTELLECTUAL DISABILITY MRT5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | NSUN2 | Rebecca Foulger reviewed gene: NSUN2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | NSUN2 |
Rebecca Foulger gene: NSUN2 was added gene: NSUN2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: NSUN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NSUN2 were set to AUTOSOMAL- RECESSIVE INTELLECTUAL DISABILITY MRT5 |
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