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Neuronal ceroid lipofuscinosis v1.14 DNAJC5 Sarah Leigh Phenotypes for gene: DNAJC5 were changed from to Ceroid lipofuscinosis, neuronal, 4, Parry type OMIM:162350; neuronal ceroid lipofuscinosis 4B MONDO:0008083
Neuronal ceroid lipofuscinosis v0.3 DNAJC5 Emma Ashton reviewed gene: DNAJC5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Neuronal ceroid lipofuscinosis v0.2 DNAJC5 Ivone Leong gene: DNAJC5 was added
gene: DNAJC5 was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS
Mode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted