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| Genomic imprinting v0.147 | STX16 | Sarah Leigh Added comment: Comment on mode of inheritance: STX16 is expressed from both alleles and so is not imprinted. However, maternally inherited STX16 variants have been reported in pseudohypoparathyroidism type 1B, which appear to have a cis disrupting effect on GNAS Exon A/B transcript (PMID: 14561710; 15579741; 15800843; 33320452; 32337648; 35119251). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic imprinting v0.147 | STX16 | Sarah Leigh Mode of inheritance for gene: STX16 was changed from MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic imprinting v0.145 | STX16 | Sarah Leigh Publications for gene: STX16 were set to 14561710; 15579741; 15800843; 33320452; 32337648; 35119251; 35119251 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic imprinting v0.144 | STX16 |
Sarah Leigh changed review comment from: At least five unrelated cases of Pseudohypoparathyroidism, type IB have been reported with a maternally inherited deletion ranging from 3 - 87.5 kb, encompassing some or all of the exons of STX16. The result effect of these deletions is thought to be the disruption of cis-acting regulators of transcription other genes, by interferring with methylation. Sources: Literature; to: At least five unrelated cases of Pseudohypoparathyroidism, type IB have been reported with a maternally inherited deletion ranging from 3 - 87.5 kb, encompassing some or all of the exons of STX16. The result effect of these deletions is thought to be the disruption of cis-acting control elements of imprinting, which are necessary for establishing and/or maintaining methylation at GNAS exon A/B, including.. Sources: Literature |
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| Genomic imprinting v0.144 | STX16 | Sarah Leigh Publications for gene: STX16 were set to 14561710; 15579741; 15800843; 33320452; 32337648; 35119251 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic imprinting v0.143 | STX16 | Sarah Leigh Publications for gene: STX16 were set to 14561710; 15579741; 15800843; 33320452; 32337648 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic imprinting v0.27 | STX16 |
Sarah Leigh gene: STX16 was added gene: STX16 was added to Imprinted Genes. Sources: Literature Mode of inheritance for gene: STX16 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Publications for gene: STX16 were set to 14561710; 15579741; 15800843; 33320452; 32337648 Phenotypes for gene: STX16 were set to Pseudohypoparathyroidism, type IB OMIM:603233; pseudohypoparathyroidism type 1B:MONDO:0011301 Review for gene: STX16 was set to GREEN Added comment: At least five unrelated cases of Pseudohypoparathyroidism, type IB have been reported with a maternally inherited deletion ranging from 3 - 87.5 kb, encompassing some or all of the exons of STX16. The result effect of these deletions is thought to be the disruption of cis-acting regulators of transcription other genes, by interferring with methylation. Sources: Literature |
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| Genomic imprinting v0.26 | GNAS | Sarah Leigh changed review comment from: GNAS complex locus includes: NESP55, GNASXL, Exon-1A, GS-alpha listed in supplimentary table (PMID 30794780)HGNC::4392); to: GNAS complex locus includes: NESP55, GNASXL, Exon-1A (STX16), GS-alpha listed in supplimentary table (PMID 30794780)HGNC::4392) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||