Activity
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6 actions
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| DDG2P v6.357 | SNRPE | Achchuthan Shanmugasundram Mode of pathogenicity for gene: SNRPE was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SNRPE | Achchuthan Shanmugasundram edited their review of gene: SNRPE: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SNRPE-related hypotrichosis simplex are strong, monoallelic_autosomal and undetermined (PMIDs: 23246290, 33792916, 36814386, 9621144). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00962.; Changed publications to: 36814386, 9621144, 23246290, 33792916; Changed phenotypes to: AUTOSOMAL-DOMINANT HYPOTRICHOSIS SIMPLEX, OMIM:615059, OMIM:615059.0, MONDO:0014027, SNRPE-related hypotrichosis simplex | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SNRPE | Achchuthan Shanmugasundram reviewed gene: SNRPE: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36814386, 23246290, 9621144; Phenotypes: AUTOSOMAL-DOMINANT HYPOTRICHOSIS SIMPLEX, OMIM:615059; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SNRPE |
Achchuthan Shanmugasundram Source Expert Review Green was added to SNRPE. Mode of pathogenicity for gene SNRPE was changed from Other - please provide details in the comments to Other Publications for gene: SNRPE were updated from 23246290; 9621144 to 36814386; 23246290; 9621144 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | SNRPE | Rebecca Foulger reviewed gene: SNRPE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SNRPE |
Rebecca Foulger gene: SNRPE was added gene: SNRPE was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SNRPE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SNRPE were set to 23246290; 9621144 Phenotypes for gene: SNRPE were set to AUTOSOMAL-DOMINANT HYPOTRICHOSIS SIMPLEX 615059 Mode of pathogenicity for gene: SNRPE was set to Other - please provide details in the comments |
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