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| 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. |
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| 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. |
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| 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 |
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