Activity
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6 actions
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| DDG2P v6.347 | SLC45A1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: SLC45A1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SLC45A1 | Achchuthan Shanmugasundram edited their review of gene: SLC45A1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC45A1-related intellectual disability and epilepsy are strong, biallelic_autosomal and undetermined (PMID:28434495). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02234.; Changed phenotypes to: MONDO:0044322, OMIM:617532.0, Intellectual disability and epilepsy, SLC45A1-related intellectual disability and epilepsy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC45A1 | Achchuthan Shanmugasundram reviewed gene: SLC45A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28434495; Phenotypes: Intellectual disability and epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC45A1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SLC45A1. Mode of pathogenicity for gene SLC45A1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | SLC45A1 | Rebecca Foulger reviewed gene: SLC45A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SLC45A1 |
Rebecca Foulger gene: SLC45A1 was added gene: SLC45A1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SLC45A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC45A1 were set to 28434495 Phenotypes for gene: SLC45A1 were set to Intellectual disability and epilepsy Mode of pathogenicity for gene: SLC45A1 was set to Other - please provide details in the comments |
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