Activity
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6 actions
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| DDG2P v6.81 | BORCS8 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: BORCS8 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | BORCS8 | Achchuthan Shanmugasundram edited their review of gene: BORCS8: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for BORCS8-related early-infantile neurological disorder with severe intellectual disability, hypotonia and congenital heart disease are moderate, biallelic_autosomal and loss of function (PMID:38128568). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03556.; Changed phenotypes to: OMIM:620987.0, BORCS8-related early-infantile neurological disorder with severe intellectual disability, hypotonia and congenital heart disease, MONDO:0975837 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.15 | BORCS8 | Arina Puzriakova Tag gene-checked was removed from gene: BORCS8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | BORCS8 | Arina Puzriakova Tag gene-checked tag was added to gene: BORCS8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | BORCS8 | Achchuthan Shanmugasundram reviewed gene: BORCS8: Rating: GREEN; Mode of pathogenicity: Other; Publications: 38128568; Phenotypes: BORCS8-related early-infantile neurological disorder with severe intellectual disability, hypotonia and congenital heart disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.9 | BORCS8 |
Achchuthan Shanmugasundram gene: BORCS8 was added gene: BORCS8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BORCS8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BORCS8 were set to 38128568 Phenotypes for gene: BORCS8 were set to BORCS8-related early-infantile neurological disorder with severe intellectual disability, hypotonia and congenital heart disease Mode of pathogenicity for gene: BORCS8 was set to Other |
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