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DDG2P v3.12 | KCTD7 | Achchuthan Shanmugasundram reviewed gene: KCTD7: Rating: GREEN; Mode of pathogenicity: ; Publications: 22693283, 17455289, 22748208; Phenotypes: PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3, OMIM:611726, NEURONAL CEROID LIPOFUSCINOSIS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | KCTD7 | Achchuthan Shanmugasundram Publications for gene: KCTD7 were updated from 17455289; 22693283; 22748208 to 22693283; 17455289; 22748208 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | KCTD7 | Rebecca Foulger reviewed gene: KCTD7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | KCTD7 |
Rebecca Foulger Added phenotypes PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3 611726 for gene: KCTD7 Publications for gene KCTD7 were changed from to 17455289; 22693283; 22748208 |
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DDG2P v0.1 | KCTD7 |
Rebecca Foulger gene: KCTD7 was added gene: KCTD7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCTD7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KCTD7 were set to NEURONAL CEROID LIPOFUSCINOSIS |