Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Cytopenia - NOT Fanconi anaemia v0.6 | IKZF1 | Louise Daugherty reviewed gene: IKZF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cytopenia - NOT Fanconi anaemia v0.5 | IKZF1 | Carl Fratter reviewed gene: IKZF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cytopenia - NOT Fanconi anaemia v0.4 | IKZF1 | Louise Daugherty Source NHS GMS was added to IKZF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cytopenia - NOT Fanconi anaemia v0.3 | IKZF1 |
Louise Daugherty Source Expert Review Amber was added to IKZF1. Mode of inheritance for gene IKZF1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Acute lymphoblastic leukemia (ALL); Immunodeficiency, common variable, 13,616873 for gene: IKZF1 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cytopenia - NOT Fanconi anaemia v0.2 | IKZF1 |
Louise Daugherty gene: IKZF1 was added gene: IKZF1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: IKZF1 was set to |