| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Imprinting disorders v1.1 | STX16 | Zornitza Stark Marked gene: STX16 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Imprinting disorders v1.1 | STX16 | Zornitza Stark Gene: stx16 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Imprinting disorders v1.1 | STX16 | Zornitza Stark Classified gene: STX16 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Imprinting disorders v1.1 | STX16 | Zornitza Stark Gene: stx16 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Imprinting disorders v1.0 | STX16 | Zornitza Stark Tag SV/CNV tag was added to gene: STX16. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Imprinting disorders v1.0 | STX16 |
Anna Le Fevre gene: STX16 was added gene: STX16 was added to Imprinting disorders. Sources: Literature Mode of inheritance for gene: STX16 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Publications for gene: STX16 were set to PMID: 1456170; 15579741; 15800843; 33320452; 32337648; 33247854; 29959430 Phenotypes for gene: STX16 were set to Pseudohypoparathyroidism type 1b MIM no: 603233 Review for gene: STX16 was set to GREEN Added comment: Multiple reports of a PHP-Ib phenotype. Caused in most cases by a maternally inherited 3-kb, 4.4-kb or larger deletion involving STX16, which is associated with loss of methylation (LOM) at GNAS exon A/B DMR (also referred to as exon 1A or GNAS A/B:TSS-DMR). Of PHP1B cases, 15–20% are familial, with an autosomal dominant mode of inheritance (AD-PHP1B) through the maternal lineage. In this familial form, the methylation defect is usually limited to loss of methylation at GNAS A/B:TSS-DMR, secondary to a 3 kb microdeletion on the maternal allele of cis-acting control elements within STX16. Other maternally inherited deletions and duplications have also been identified in some rare familial cases affecting either an isolated GNAS A/B:TSS-DMR or all four DMRs (Nature review, PMID 29959430) STX16 is not clearly an imprinted gene, but only maternally inherited deletions are associated with this phenotype. Deletions in this gene are thought to disrupt cis-acting regulation of GNAS expression. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||