Activity
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6 actions
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| DDG2P v6.346 | SLC39A8 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: SLC39A8 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SLC39A8 | Achchuthan Shanmugasundram edited their review of gene: SLC39A8: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC39A8-related intellectual disability with cerebellar atrophy are definitive, biallelic_autosomal and undetermined (PMIDs: 26637978, 26637979). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01660.; Changed publications to: 26637979, 26637978; Changed phenotypes to: OMIM:616721.0, Intellectual Disability with Cerebellar Atrophy, SLC39A8-related intellectual disability with cerebellar atrophy, MONDO:0014746 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC39A8 | Achchuthan Shanmugasundram reviewed gene: SLC39A8: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26637978, 26637979; Phenotypes: Intellectual Disability with Cerebellar Atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC39A8 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SLC39A8 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC39A8 | Rebecca Foulger reviewed gene: SLC39A8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SLC39A8 |
Rebecca Foulger gene: SLC39A8 was added gene: SLC39A8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC39A8 were set to 26637978; 26637979 Phenotypes for gene: SLC39A8 were set to Intellectual Disability with Cerebellar Atrophy Mode of pathogenicity for gene: SLC39A8 was set to Other - please provide details in the comments |
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