Activity
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6 actions
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| Fetal anomalies v5.16 | SNRPE | Achchuthan Shanmugasundram commented on gene: SNRPE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | SNRPE | Sunayna Best reviewed gene: SNRPE: Rating: RED; Mode of pathogenicity: ; Publications: 33792916, 9621144; Phenotypes: Hypotrichosis 11, MIM#615059; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | SNRPE |
Achchuthan Shanmugasundram Source NHS GMS was added to SNRPE. Source Expert Review Red was added to SNRPE. Mode of inheritance for gene SNRPE was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Hypotrichosis 11, OMIM:615059 for gene: SNRPE Publications for gene: SNRPE were updated from to 9621144; 33792916 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Fetal anomalies v0.9 | SNRPE | Rebecca Foulger commented on gene: SNRPE: DDG2P rating in original PAGE list: Probable for AUTOSOMAL-DOMINANT HYPOTRICHOSIS SIMPLEX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | SNRPE | Rebecca Foulger reviewed gene: SNRPE: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | SNRPE |
Rebecca Foulger gene: SNRPE was added gene: SNRPE was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SNRPE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SNRPE were set to AUTOSOMAL-DOMINANT HYPOTRICHOSIS SIMPLEX |
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