Activity

Filter

Cancel
Date Panel Item Activity
3 actions
Glycogen storage disease v1.8 SLC37A4 Arina Puzriakova Phenotypes for gene: SLC37A4 were changed from Glycogen storage disease Ic 232240; Glycogen storage disease Ib 232220 to Glycogen storage disease Ib, OMIM:232220; Glycogen storage disease Ic, OMIM:232240
Glycogen storage disease v0.3 SLC37A4 Carol Hardy reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: ; Publications: 20301489; Phenotypes: Glycogen storage disease Ib 232220, Glycogen storage disease Ic 232240; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Glycogen storage disease v0.2 SLC37A4 Ivone Leong gene: SLC37A4 was added
gene: SLC37A4 was added to Glycogen storage disease. Sources: Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: SLC37A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC37A4 were set to 20301489
Phenotypes for gene: SLC37A4 were set to Glycogen storage disease Ic 232240; Glycogen storage disease Ib 232220