Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Cytopenia - NOT Fanconi anaemia v0.136 MTHFD1 Louise Daugherty Source Expert Review Red was added to MTHFD1.
Cytopenia - NOT Fanconi anaemia v0.135 MTHFD1 Louise Daugherty reviewed gene: MTHFD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.134 MTHFD1 Louise Daugherty Source Expert review Red was added to MTHFD1.
Cytopenia - NOT Fanconi anaemia v0.133 MTHFD1 Louise Daugherty Mode of inheritance for gene MTHFD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 for gene: MTHFD1
Cytopenia - NOT Fanconi anaemia v0.132 MTHFD1 Louise Daugherty gene: MTHFD1 was added
gene: MTHFD1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS
Mode of inheritance for gene: MTHFD1 was set to