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| Neuronal ceroid lipofuscinosis v1.17 | PPT1 | Sarah Leigh Phenotypes for gene: PPT1 were changed from to Ceroid lipofuscinosis, neuronal, 1 OMIM:256730; neuronal ceroid lipofuscinosis 1 MONDO:0009744 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neuronal ceroid lipofuscinosis v0.3 | PPT1 | Emma Ashton reviewed gene: PPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neuronal ceroid lipofuscinosis v0.2 | PPT1 |
Ivone Leong gene: PPT1 was added gene: PPT1 was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal |
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