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| DDG2P v6.78 | BHLHA9 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: BHLHA9 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | BHLHA9 | Achchuthan Shanmugasundram edited their review of gene: BHLHA9: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for BHLHA9-related mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type are definitive, biallelic_autosomal and dominant negative (PMIDs: 25466284, 29263794, 30107244, 31152918, 31912643, 34272776, 36565049). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00920. The DDG2P confidence category, allelic requirement and molecular mechanism for BHLHA9-related split hand and foot malformation are definitive, monoallelic_autosomal and undetermined (PMIDs: 22147889, 23790188). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02025.; Changed publications to: 25466284, 29263794, 34272776, 31152918, 23790188, 31912643, 22147889, 30107244, 36565049; Changed phenotypes to: BHLHA9-related split hand and foot malformation, MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE, OMIM:69432, BHLHA9-related mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type, SPLIT HAND AND FOOT MALFORMATION, OMIM:220600, OMIM:609432.0, MONDO:0012271, MONDO:0016576 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BHLHA9 | Achchuthan Shanmugasundram reviewed gene: BHLHA9: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22147889, 23790188, 25466284; Phenotypes: MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE, OMIM:69432, SPLIT HAND AND FOOT MALFORMATION, OMIM:220600; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | BHLHA9 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene BHLHA9 was changed from Other - please provide details in the comments to Other Publications for gene: BHLHA9 were updated from 23790188; 22147889 to 22147889; 23790188; 25466284 |
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| DDG2P v0.2 | BHLHA9 | Rebecca Foulger reviewed gene: BHLHA9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | BHLHA9 |
Rebecca Foulger Added phenotypes SPLIT HAND AND FOOT MALFORMATION 220600 for gene: BHLHA9 Publications for gene BHLHA9 were changed from 25466284 to 23790188; 22147889 |
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| DDG2P v0.1 | BHLHA9 |
Rebecca Foulger gene: BHLHA9 was added gene: BHLHA9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BHLHA9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: BHLHA9 were set to 25466284 Phenotypes for gene: BHLHA9 were set to MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE 69432 Mode of pathogenicity for gene: BHLHA9 was set to Other - please provide details in the comments |
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