| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Additional findings_Adult v1.8 | HNF1B | Zornitza Stark Marked gene: HNF1B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.8 | HNF1B | Zornitza Stark Gene: hnf1b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.8 | HNF1B | Zornitza Stark Classified gene: HNF1B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.8 | HNF1B | Zornitza Stark Gene: hnf1b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.7 | HNF1B |
Zornitza Stark gene: HNF1B was added gene: HNF1B was added to Additional findings_Adult. Sources: Expert list SV/CNV tags were added to gene: HNF1B. Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HNF1B were set to Renal cysts and diabetes syndrome, MIM# 137920 Review for gene: HNF1B was set to GREEN Added comment: Treatment is symptomatic and interdisciplinary, requiring nephrologist and diabetologist. Surveillance involves routine blood tests. Although initial response to oral antihyperglycaemic agents including sulfonylureas is common, clinical course tends to be progressive and most ultimately require treatment with insulin. Treatment for renal manifestations can include RRT and kidney transplantation. Misdiagnosis and delayed diagnosis of MODY are common. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||