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DDG2P v3.12 | TBC1D24 | Achchuthan Shanmugasundram reviewed gene: TBC1D24: Rating: GREEN; Mode of pathogenicity: ; Publications: 20727515, 20797691, 10741954, 24291220; Phenotypes: MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL, OMIM:605021, DOORS SYNDROME, OMIM:220500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | TBC1D24 | Achchuthan Shanmugasundram Publications for gene: TBC1D24 were updated from 24291220 to 20727515; 10741954; 24291220; 20797691 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | TBC1D24 | Rebecca Foulger reviewed gene: TBC1D24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | TBC1D24 |
Rebecca Foulger Added phenotypes DOORS SYNDROME 220500 for gene: TBC1D24 Publications for gene TBC1D24 were changed from 20727515; 10741954; 20797691 to 24291220 |
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DDG2P v0.1 | TBC1D24 |
Rebecca Foulger Added phenotypes MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL 605021 for gene: TBC1D24 Publications for gene TBC1D24 were changed from to 20727515; 10741954; 20797691 |
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DDG2P v0.1 | TBC1D24 |
Rebecca Foulger gene: TBC1D24 was added gene: TBC1D24 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TBC1D24 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBC1D24 were set to NON SYNDROMAL HEARING LOSS 614617 |