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| 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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