Familial hypoparathyroidism
Gene: STX16
When the copy number coordinates have been established by ClinGen for STX16, this information will be added to the Familial hypoparathyroidism panelCreated: 1 Nov 2022, 12:53 p.m. | Last Modified: 1 Nov 2022, 12:53 p.m.
Panel Version: 2.7
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 13 Oct 2022, 11:48 a.m. | Last Modified: 13 Oct 2022, 11:48 a.m.
Panel Version: 2.7
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, NOT imprinted
Phenotypes
Pseudohypoparathyroidism, type IB OMIM:603233; pseudohypoparathyroidism type 1B:MONDO:0011301
Publications
Tag non-coding-known-pathogenic tag was added to gene: STX16. Tag cnv tag was added to gene: STX16.
Tag Q4_22_MOI tag was added to gene: STX16. Tag Q4_22_promote_green tag was added to gene: STX16.
Gene: stx16 has been classified as Amber List (Moderate Evidence).
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