Activity
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3 actions
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| Familial hypoparathyroidism v2.18 | STX16 |
Eleanor Williams changed review comment from: The rating of this gene has was initially changed to green (but not in the signed off version of the panel) but after further review it has been decided to keep it as amber. GLH review notes: STX16 deletions are associated with pseudohypoparathroidism (1b). Clinically this means hypocalcaemia but PTH levels are elevated – which is the normal response to low serum calcium (hence the pseudo and indicating defective response to PTH levels rather than defective PTH production as in hypoparathyroidism ). R153 Familial hypoparathyroidism testing criteria are: Non-syndromic hypoparathyroidism with low calcium levels and low or inappropriately normal serum PTH, with no detectable cause. Clinically R153 requires hypocalcaemia and low PTH levels (/ inappropriately normal in ADH) due to defective PTH production in the main) - so patients with STX16 wont clinically fulfil R153 test criteria. following NHS Genomic Medicine Service approval.; to: The rating of this gene has was initially changed to green (but not in the signed off version of the panel) but after further review it has been decided to keep it as amber (see review by Treena Cranston) . The clinical phenotype of pseudohypoparathroidism 1b does not fit with the testing criteria of the panel: R153 requires hypocalcaemia and low PTH levels (/ inappropriately normal in ADH) due to defective PTH production in the main) - so patients with STX16 wont clinically fulfil R153 test criteria. Therefore this gene remains amber following NHS Genomic Medicine Service review. |
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| Familial hypoparathyroidism v2.18 | STX16 |
Eleanor Williams changed review comment from: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; to: The rating of this gene has was initially changed to green (but not in the signed off version of the panel) but after further review it has been decided to keep it as amber. GLH review notes: STX16 deletions are associated with pseudohypoparathroidism (1b). Clinically this means hypocalcaemia but PTH levels are elevated – which is the normal response to low serum calcium (hence the pseudo and indicating defective response to PTH levels rather than defective PTH production as in hypoparathyroidism ). R153 Familial hypoparathyroidism testing criteria are: Non-syndromic hypoparathyroidism with low calcium levels and low or inappropriately normal serum PTH, with no detectable cause. Clinically R153 requires hypocalcaemia and low PTH levels (/ inappropriately normal in ADH) due to defective PTH production in the main) - so patients with STX16 wont clinically fulfil R153 test criteria. following NHS Genomic Medicine Service approval. |
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| Familial hypoparathyroidism v1.10 | PTH | Ivone Leong commented on gene: PTH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||