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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.
Familial hypoparathyroidism v2.18 STX16 Eleanor Williams edited their review of gene: STX16: Changed rating: AMBER
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.
Familial hypoparathyroidism v2.18 STX16 Achchuthan Shanmugasundram Classified gene: STX16 as Amber List (moderate evidence)
Familial hypoparathyroidism v2.18 STX16 Achchuthan Shanmugasundram Gene: stx16 has been classified as Amber List (Moderate Evidence).
Familial hypoparathyroidism v2.17 STX16 Treena Cranston reviewed gene: STX16: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Familial hypoparathyroidism v2.17 STX16 Eleanor Williams Tag Q4_22_promote_green was removed from gene: STX16.
Familial hypoparathyroidism v2.17 STX16 Eleanor Williams reviewed gene: STX16: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Familial hypoparathyroidism v2.16 STX16 Eleanor Williams Source Expert Review Green was added to STX16.
Source NHS GMS was added to STX16.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Familial hypoparathyroidism v2.15 STX16 Achchuthan Shanmugasundram Tag Q4_22_MOI was removed from gene: STX16.
Familial hypoparathyroidism v2.7 STX16 Sarah Leigh commented on gene: STX16: When the copy number coordinates have been established by ClinGen for STX16, this information will be added to the Familial hypoparathyroidism panel
Familial hypoparathyroidism v2.7 STX16 Sarah Leigh Tag non-coding-known-pathogenic tag was added to gene: STX16.
Tag cnv tag was added to gene: STX16.
Familial hypoparathyroidism v2.7 STX16 Sarah Leigh Tag Q4_22_MOI tag was added to gene: STX16.
Tag Q4_22_promote_green tag was added to gene: STX16.
Familial hypoparathyroidism v2.7 STX16 Sarah Leigh edited their review of gene: STX16: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Familial hypoparathyroidism v2.7 STX16 Sarah Leigh Classified gene: STX16 as Amber List (moderate evidence)
Familial hypoparathyroidism v2.7 STX16 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Familial hypoparathyroidism v2.7 STX16 Sarah Leigh Gene: stx16 has been classified as Amber List (Moderate Evidence).
Familial hypoparathyroidism v2.6 STX16 Sarah Leigh Entity copied from Genomic imprinting v0.147
Familial hypoparathyroidism v2.6 STX16 Sarah Leigh gene: STX16 was added
gene: STX16 was added to Familial hypoparathyroidism. Sources: Literature
Mode of inheritance for gene: STX16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: STX16 were set to 14561710; 15579741; 15800843; 33320452; 32337648; 35119251
Phenotypes for gene: STX16 were set to Pseudohypoparathyroidism, type IB OMIM:603233; pseudohypoparathyroidism type 1B:MONDO:0011301