Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Cytopenia - NOT Fanconi anaemia v0.136 ABCG8 Louise Daugherty Source Expert Review Amber was added to ABCG8.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v0.135 ABCG8 Louise Daugherty reviewed gene: ABCG8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.134 ABCG8 Louise Daugherty Source Expert review Amber was added to ABCG8.
Cytopenia - NOT Fanconi anaemia v0.133 ABCG8 Louise Daugherty Mode of inheritance for gene ABCG8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Sitosterolemia with macrothrombocytopenia; Sitosterolemia, 210250 for gene: ABCG8
Cytopenia - NOT Fanconi anaemia v0.132 ABCG8 Louise Daugherty gene: ABCG8 was added
gene: ABCG8 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: ABCG8 was set to