Activity

Filter

Cancel
Date Panel Item Activity
3 actions
Neuronal ceroid lipofuscinosis v1.18 TPP1 Sarah Leigh Phenotypes for gene: TPP1 were changed from to Ceroid lipofuscinosis, neuronal, 2 OMIM:204500; neuronal ceroid lipofuscinosis 2 MONDO:0008769
Neuronal ceroid lipofuscinosis v0.3 TPP1 Emma Ashton reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neuronal ceroid lipofuscinosis v0.2 TPP1 Ivone Leong gene: TPP1 was added
gene: TPP1 was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS
Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal