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Neuronal ceroid lipofuscinosis v1.16 MFSD8 Sarah Leigh Phenotypes for gene: MFSD8 were changed from to Ceroid lipofuscinosis, neuronal, 7 OMIM:610951; neuronal ceroid lipofuscinosis 7 MONDO:0012588
Neuronal ceroid lipofuscinosis v0.3 MFSD8 Emma Ashton reviewed gene: MFSD8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neuronal ceroid lipofuscinosis v0.2 MFSD8 Ivone Leong gene: MFSD8 was added
gene: MFSD8 was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS
Mode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal