Activity
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12 actions
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| Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis v1.6 | STX16 |
Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: STX16. Tag Q2_25_expert_review was removed from gene: STX16. |
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| Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis v1.6 | STX16 | Achchuthan Shanmugasundram edited their review of gene: STX16: Added comment: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. The GMS reviewers commented as follows: Only STX16 deletions are clinically relevant and STX16 probes are included in the MS-MLPA kit which is an essential component of R293 testing as STX16 deletions act on methylation only. Adding this gene to Panelapp could be missleading as would suggest analysis of SNVs.; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis v1.5 | STX16 | Achchuthan Shanmugasundram Phenotypes for gene: STX16 were changed from Pseudohypoparathyroidism, type IB OMIM:603233; pseudohypoparathyroidism type 1B:MONDO:0011301 to Pseudohypoparathyroidism Ib, OMIM:603233; pseudohypoparathyroidism type 1B, MONDO:0011301 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis v1.4 | STX16 | Achchuthan Shanmugasundram Classified gene: STX16 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis v1.4 | STX16 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of STX16 deletions with Pseudohypoparathyroidism Ib (MIM #603233). As reviewed by Treena Cranston on Familial hypoparathyroidism panel (please see her review below, which was copied from that panel), the pseudohypoparathyroidism phenotype should be covered by this panel (R293) rather than R153. Hence, this gene should be considered for promotion to green rating on this panel in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis v1.4 | STX16 | Achchuthan Shanmugasundram Gene: stx16 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis v1.3 | STX16 | Achchuthan Shanmugasundram edited their review of gene: STX16: Changed rating: GREEN; Changed phenotypes to: Pseudohypoparathyroidism Ib, OMIM:603233; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis v1.3 | STX16 | Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: STX16 is not clearly an imprinted gene. As reported in publications, only maternally inherited deletions are associated with this phenotype. Deletions in this gene are thought to disrupt cis-acting regulation of GNAS expression. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis v1.3 | STX16 | Achchuthan Shanmugasundram Mode of inheritance for gene: STX16 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis v1.2 | STX16 |
Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: STX16. Tag Q2_25_expert_review tag was added to gene: STX16. |
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| Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis v1.2 | STX16 | Achchuthan Shanmugasundram Entity copied from Familial hypoparathyroidism v3.1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis v1.2 | STX16 |
Achchuthan Shanmugasundram gene: STX16 was added gene: STX16 was added to Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis. Sources: NHS GMS,Expert Review Amber,Literature non-coding-known-pathogenic, cnv tags were added to gene: STX16. 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 |
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