Activity
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8 actions
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| DDG2P v6.193 | HIST1H4C | Achchuthan Shanmugasundram Mode of pathogenicity for gene: HIST1H4C was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | HIST1H4C | Achchuthan Shanmugasundram edited their review of gene: HIST1H4C: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for H4C3-related Tessadori-Bicknell-van Haaften neurodevelopmental syndrome are strong, monoallelic_autosomal and undetermined (PMID:28920961). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01969.; Changed phenotypes to: HIST1H4C, OMIM:619758.0, MONDO:0030729, H4C3-related Tessadori-Bicknell-van Haaften neurodevelopmental syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HIST1H4C | Achchuthan Shanmugasundram reviewed gene: HIST1H4C: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28920961; Phenotypes: HIST1H4C; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HIST1H4C |
Achchuthan Shanmugasundram Source Expert Review Green was added to HIST1H4C. Mode of pathogenicity for gene HIST1H4C was changed from Other - please provide details in the comments to Other Publications for gene: HIST1H4C were updated from 100000; 28920961 to 100000; 28920961 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.80 | HIST1H4C | Louise Daugherty Tag new-gene-name tag was added to gene: HIST1H4C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.80 | HIST1H4C | Louise Daugherty commented on gene: HIST1H4C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HIST1H4C | Rebecca Foulger reviewed gene: HIST1H4C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | HIST1H4C |
Rebecca Foulger gene: HIST1H4C was added gene: HIST1H4C was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: HIST1H4C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HIST1H4C were set to 100000; 28920961 Phenotypes for gene: HIST1H4C were set to HIST1H4C Mode of pathogenicity for gene: HIST1H4C was set to Other - please provide details in the comments |
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