Activity
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4 actions
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| DDG2P v6.56 | ARPC4 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: ARPC4 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ARPC4 | Achchuthan Shanmugasundram edited their review of gene: ARPC4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ARPC4-related microcephaly and developmental delay are strong, monoallelic_autosomal and undetermined (PMIDs: 35047857, 36513617). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03238.; Changed publications to: 35047857, 36513617; Changed phenotypes to: OMIM:620141.0, MONDO:0859324, ARPC4-related microcephaly and developmental delay | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARPC4 | Achchuthan Shanmugasundram reviewed gene: ARPC4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35047857; Phenotypes: ARPC4-related microcephaly and developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ARPC4 |
Achchuthan Shanmugasundram gene: ARPC4 was added gene: ARPC4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ARPC4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ARPC4 were set to 35047857 Phenotypes for gene: ARPC4 were set to ARPC4-related microcephaly and developmental delay Mode of pathogenicity for gene: ARPC4 was set to Other |
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