Intestinal failure or congenital diarrhoea
Gene: STXBP2This gene has been confirmed for this panel by the NHS Genomic Medicine Service and should be rated green.Created: 8 Mar 2022, 11:44 a.m. | Last Modified: 8 Mar 2022, 11:44 a.m.
Panel Version: 1.48
Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 24 Jan 2019, 4:43 p.m.
Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: STXBP2; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 8 Jan 2019, 10:52 a.m.
Associated with phenotype in OMIM, not in G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel and Emory Genetics Laboratory Early Onset Inflammatory Bowel Disease: Sequencing Panel. At least 7 variants reported, four different variants as homozygotes and three as compound heterozygotes.Created: 5 Sep 2016, 9:19 a.m.
Publications
Phenotypes for gene: STXBP2 were changed from Hemophagocytic lymphohistiocytosis, familial, 5 613101 to Hemophagocytic lymphohistiocytosis, familial, 5, OMIM:613101
Gene: stxbp2 has been classified as Green List (High Evidence).
Source Other was added to STXBP2. Mode of inheritance for gene STXBP2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 5 613101 for gene: STXBP2 Publications for gene STXBP2 were changed from to 20798128; 19804848
Source Expert Review Green was added to STXBP2. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: STXBP2 was added gene: STXBP2 was added to Intestinal failure. Sources: NHS GMS Mode of inheritance for gene: STXBP2 was set to