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Neuronal ceroid lipofuscinosis v1.15 | KCTD7 | Sarah Leigh Phenotypes for gene: KCTD7 were changed from to Epilepsy, progressive myoclonic 3, with or without intracellular inclusions OMIM:611726; progressive myoclonic epilepsy type 3 MONDO:0012721 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neuronal ceroid lipofuscinosis v0.3 | KCTD7 | Emma Ashton reviewed gene: KCTD7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neuronal ceroid lipofuscinosis v0.2 | KCTD7 |
Ivone Leong gene: KCTD7 was added gene: KCTD7 was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS Mode of inheritance for gene: KCTD7 was set to BIALLELIC, autosomal or pseudoautosomal |