| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Additional findings_Adult v1.35 | GBA | Zornitza Stark Marked gene: GBA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.35 | GBA | Zornitza Stark Gene: gba has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.35 | GBA | Zornitza Stark Classified gene: GBA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.35 | GBA | Zornitza Stark Gene: gba has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.34 | GBA |
Zornitza Stark gene: GBA was added gene: GBA was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GBA were set to Gaucher disease, type I MIM#230900 Review for gene: GBA was set to GREEN Added comment: Gaucher disease type 1 can present at any age. GD is a lysosomal storage disorder caused by a deficiency of glucocerebrosidase which results in the multisystemic accumulation of glucosylceramide-laden macrophages (Gaucher cells) in various tissues: spleen, liver, bone marrow, bone mineral, and less often the lungs, skin, eyes, kidneys, lymphatic system, and heart. The spectrum of clinical manifestations and symptoms includes hepatosplenomegaly (HSM), abdominal discomfort and distension, skeletal disease (e.g., bone pain, osteopenia, bone infarct, osteonecrosis, pathological fractures), cytopenia (e.g., thrombocytopenia, anemia), fatigue, excessive bleeding, increased risk of infections, cardiovascular complications, and pulmonary disease. Enzyme replacement therapy (ERT) with recombinant glucocerebrosidase (imiglucerase, velaglucerase, or taliglucerase) is the current standard of care for symptomatic individuals with GD type 1. Sources: Expert list |
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