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| Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.0 | RET | Ivone Leong changed review comment from: Submitted on behalf of Treena Cranston (Oxford): exons 5,8,10,11,13,14,15 &16 should be covered.; to: Submitted on behalf of Treena Cranston (Oxford): minimally cover exons 5,8,10,11,13,14,15 &16. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.7 | RET | Ivone Leong commented on gene: RET: Submitted on behalf of Treena Cranston (Oxford): exons 5,8,10,11,13,14,15 &16 should be covered. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 | RET | Ivone Leong Marked gene: RET as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 | RET | Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 | RET | Ivone Leong Gene: ret has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.4 | RET |
Ivone Leong gene: RET was added gene: RET was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RET were set to Multiple endocrine neoplasia IIA, 171400Medullary thyroid carcinoma, 155240Multiple endocrine neoplasia IIB, 162300Central hypoventilation syndrome, congenital, 209880Pheochromocytoma, 171300Renal agenesis, 191830{Hirschsprung disease, susceptibility to, 1}, 142623; Multiple Endocrine Neoplasia Mode of pathogenicity for gene: RET was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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