| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mosaic skin disorders v1.8 | BRAF | Bryony Thompson Classified gene: BRAF as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders v1.8 | BRAF | Bryony Thompson Added comment: Comment on list classification: Added from PanelApp UK Mosaic skin disorders panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders v1.8 | BRAF | Bryony Thompson Gene: braf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders v1.7 | BRAF | Bryony Thompson Marked gene: BRAF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders v1.7 | BRAF | Bryony Thompson Gene: braf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders v1.7 | BRAF | Bryony Thompson Classified gene: BRAF as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders v1.7 | BRAF | Bryony Thompson Gene: braf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders v1.6 | BRAF |
Sangavi Sivagnanasundram gene: BRAF was added gene: BRAF was added to Mosaic skin disorders. Sources: NHS GMS Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BRAF were set to 31111470 Phenotypes for gene: BRAF were set to Melanocytic naevus syndrome (MONDO:0044792; MIM#137550) Mode of pathogenicity for gene: BRAF was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added comment: More than 3 unrelated cases with tissue specific mosaic variants. 7 cases with congenital melanocytic naevi (CMN) identified a BRAF missense mutation (p.V600E) from naevus biopsies. Sanger sequencing of mutant BRAF (p.V600E) naevus cultured cells showed confirmed heterozygosity with an increase in somatic load compared to those extracted directly from whole tissue from CMN. Expression of the BRAF variant protein in all naevus cells was identified using immunohistochemistry. Sources: NHS GMS |
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