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| DDG2P v4.10 | KCTD7 | Achchuthan Shanmugasundram edited their review of gene: KCTD7: Added comment: The DDG2P confidence category for the disease KCTD7-related progressive myoclonic epilepsy, OMIM:611726 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 22693283;17455289;32412666;38231304;35921411;30295347;22748208;30500434).; Changed publications to: 30295347, 30500434, 17455289, 22748208, 35921411, 32412666, 38231304, 22693283; Changed phenotypes to: NEURONAL CEROID LIPOFUSCINOSIS, KCTD7-related progressive myoclonic epilepsy, OMIM:611726, PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3, OMIM:611726 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 |
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