| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Pituitary hormone deficiency v0.50 | BRAF | Chirag Patel Classified gene: BRAF as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.50 | BRAF | Chirag Patel Gene: braf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.49 | BRAF |
Chirag Patel gene: BRAF was added gene: BRAF was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BRAF were set to 33795686 Phenotypes for gene: BRAF were set to Cardiofaciocutaneous syndrome, MONDO:0015280 Review for gene: BRAF was set to GREEN Added comment: 5 unrelated patients with Cardio-Facio-Cutaneous (CFC) syndrome and 4 different missense variants in BRAF. They all had features of Septo-Optic Dysplasia with hypopituitarism. Functional studies using HEK293T cells showed that the BRAF genetic variants are pathogenic and result in activation of the ERK/MAPK pathway. Mice expressing one of the variants found BRAF p.Q257R showed abnormalities in terminal differentiation of hormone-producing cells causing hypopituitarism. Sources: Genomics England PanelApp |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||