Activity
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8 actions
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| Endocrine neoplasia v3.7 | GPR101 |
Arina Puzriakova gene: GPR101 was added gene: GPR101 was added to Endocrine neoplasia. Sources: Literature Q2_26_promote_green tags were added to gene: GPR101. Mode of inheritance for gene: GPR101 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: GPR101 were set to 29389097; 25470569; 25806920; 26982009; 27245663; 27743704; 32958754 Phenotypes for gene: GPR101 were set to Pituitary adenoma 2, GH-secreting, OMIM:300943 Review for gene: GPR101 was set to GREEN Added comment: Heterozygous or hemizygous germline variants or somatic duplications in GPR101 lead to X-linked pituitary gigantism/acrogigantism characterised by marked overgrowth in early childhood, often within the first months of life, due to excess of GH. Most patients present with concomitant hyperprolactinaemia. Histopathology shows pituitary hyperplasia or pituitary adenoma with or without associated hyperplasia. At least 30 individuals have been reported to date - mostly females harbouring germline variants, while males typically carry somatic mosaic variants although a small number of males with a germline duplication inherited from their affected mother have also been reported. Sources: Literature |
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| Endocrine neoplasia 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Endocrine neoplasia v0.6 | 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Endocrine neoplasia v0.4 | RET | Ivone Leong Marked gene: RET as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Endocrine neoplasia v0.4 | 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Endocrine neoplasia v0.4 | RET | Ivone Leong Gene: ret has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Endocrine neoplasia v0.3 | RET |
Ivone Leong gene: RET was added gene: RET was added to Endocrine neoplasms. 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 MEN2-like spectrum; Multiple Endocrine Neoplasia Type 2: RET Gene Deletion/Duplication; Multiple endocrine neoplasia IIA, 171400; Endocrine Cancer; Multiple Endocrine Neoplasia |
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| Endocrine neoplasia v0.3 | AIP |
Ivone Leong gene: AIP was added gene: AIP was added to Endocrine neoplasms. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: AIP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: AIP were set to Endocrine Cancer; Pituitary adenoma, growth hormone-secreting, 102200; pituitary tumours; Familial Isolated Pituitary Adenomas; Pituitary adenoma, prolactin-secreting, 600634; Pituitary adenoma, ACTH-secreting, 219090 |
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