Genomic imprinting
Gene: STX16
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).Created: 13 Oct 2022, 11:34 a.m. | Last Modified: 13 Oct 2022, 11:34 a.m.
Panel Version: 0.147
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: LiteratureCreated: 4 Jan 2021, 3:29 p.m. | Last Modified: 11 Oct 2022, 10:17 a.m.
Panel Version: 0.144
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes
Pseudohypoparathyroidism, type IB OMIM:603233; pseudohypoparathyroidism type 1B:MONDO:0011301
Publications
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
Publications for gene: STX16 were set to 14561710; 15579741; 15800843; 33320452; 32337648; 35119251; 35119251
Publications for gene: STX16 were set to 14561710; 15579741; 15800843; 33320452; 32337648; 35119251
Publications for gene: STX16 were set to 14561710; 15579741; 15800843; 33320452; 32337648
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