Activity
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| DDG2P v6.196 | HECTD4 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: HECTD4 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | HECTD4 | Achchuthan Shanmugasundram edited their review of gene: HECTD4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for HECTD4-related neurodevelopmental disorder with seizures, hypotonia, spasticity, and agenesis of the corpus callosum are moderate, biallelic_autosomal and undetermined (PMID:36401616). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03490.; Changed phenotypes to: HECTD4-related neurodevelopmental disorder with seizures, hypotonia, spasticity, and agenesis of the corpus callosum, MONDO:0859516, OMIM:620250.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.11 | HECTD4 | Arina Puzriakova Tag gene-checked tag was added to gene: HECTD4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | HECTD4 | Achchuthan Shanmugasundram reviewed gene: HECTD4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36401616; Phenotypes: HECTD4-related neurodevelopmental disorder with seizures, hypotonia, spasticity, and agenesis of the corpus callosum; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.9 | HECTD4 |
Achchuthan Shanmugasundram gene: HECTD4 was added gene: HECTD4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HECTD4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HECTD4 were set to 36401616 Phenotypes for gene: HECTD4 were set to HECTD4-related neurodevelopmental disorder with seizures, hypotonia, spasticity, and agenesis of the corpus callosum Mode of pathogenicity for gene: HECTD4 was set to Other |
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