Activity

Filter

Cancel
Date Panel Item Activity
15 actions
Primary immunodeficiency or monogenic inflammatory bowel disease v2.548 STXBP3 Eleanor Williams Tag gene-checked tag was added to gene: STXBP3.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.536 STXBP3 Arina Puzriakova edited their review of gene: STXBP3: Added comment: The rating of this gene has been updated following NHS Genomic Medicine Service approval. It was agreed that there is enough evidence to rate as green - sufficient number of cases presenting a relevant phenotype with some functional data. However, note that several families carried potentially contributory variants in other genes.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v2.535 STXBP3 Arina Puzriakova Source Expert Review Green was added to STXBP3.
Added phenotypes Syntaxin binding protein 3 defect for gene: STXBP3
Publications for gene: STXBP3 were updated from 33346580; https://doi.org/10.1053/j.gastro.2017.11.120; 33891011 to 33891011; 33346580; https://doi.org/10.1053/j.gastro.2017.11.120
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.425 STXBP3 Arina Puzriakova Classified gene: STXBP3 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.425 STXBP3 Arina Puzriakova Added comment: Comment on list classification: Sufficient number of cases presenting a relevant phenotype with some functional data. However, given that several families carried potentially contributory variants in other genes, going to maintain an Amber rating at this time in anticipation of further cases/clinical evidence to validate the pathogenicity of this gene.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.425 STXBP3 Arina Puzriakova Gene: stxbp3 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.424 STXBP3 Arina Puzriakova changed review comment from: Ouahed et al. 2021 (PMID: 33891011) report 5 unrelated families with 10 patients who presented with a similar phenotype including medically refractory infantile-onset IBD (10/10), severe bilateral sensorineural hearing loss (8/10), and, in the majority, recurrent infections (6/10). Heterozygous variants in STXBP3 were identified in 3 families (2 de novo, 1 paternally transmitted); while 5 sibs from 2 unrelated families harboured different compound het variants. Variants interfered with either intron splicing or protein stability and all were shown to reduce STXBP3 protein expression. Knock-down of STXBP3 in CaCo2 cells resulted in defects in cell polarity.

Additional variants not thought to be independently deleterious by the authors, but in pathways of interest or in known VEOIBD genes, were identified in 4/5 families.

* Note the previous review submitted by Kelsey Jones (GOSH) references an abstract briefly reporting on 4/5 of the families from PMID:33891011; to: Ouahed et al. 2021 (PMID: 33891011) report 5 unrelated families with 10 patients who presented with a similar phenotype including medically refractory infantile-onset IBD (10/10), severe bilateral sensorineural hearing loss (8/10), and, in the majority, recurrent infections (6/10). Heterozygous variants in STXBP3 were identified in 3 families (2 de novo, 1 paternally transmitted); while 5 sibs from 2 unrelated families harboured different compound het variants. Variants interfered with either intron splicing or protein stability and all were shown to reduce STXBP3 protein expression. Knock-down of STXBP3 in CaCo2 cells resulted in defects in cell polarity.

Additional variants not thought to be independently deleterious by the authors, but in pathways of interest or in known VEOIBD genes, were identified in 4/5 families.

* Note the previous review submitted by Kelsey Jones (GOSH) references an abstract briefly reporting on 4 of the families from PMID:33891011
Primary immunodeficiency or monogenic inflammatory bowel disease v2.424 STXBP3 Arina Puzriakova reviewed gene: STXBP3: Rating: AMBER; Mode of pathogenicity: None; Publications: 33891011; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.424 STXBP3 Arina Puzriakova Publications for gene: STXBP3 were set to 33346580; https://doi.org/10.1053/j.gastro.2017.11.120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.421 STXBP3 Zornitza Stark reviewed gene: STXBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33891011; Phenotypes: Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss, Immune Dysregulation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v2.401 STXBP3 Ivone Leong Classified gene: STXBP3 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.401 STXBP3 Ivone Leong Added comment: Comment on list classification: New gene added by Kelsey Jones (Great Ormond Street Hospital). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. Based on the available evidence this gene has been given an Amber rating.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.401 STXBP3 Ivone Leong Gene: stxbp3 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.397 STXBP3 Ivone Leong Publications for gene: STXBP3 were set to PMID: 33346580
Primary immunodeficiency or monogenic inflammatory bowel disease v2.392 STXBP3 Kelsey Jones gene: STXBP3 was added
gene: STXBP3 was added to Primary immunodeficiency. Sources: Expert Review
Mode of inheritance for gene: STXBP3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: STXBP3 were set to PMID: 33346580
Phenotypes for gene: STXBP3 were set to Very Early Onset Inflammatory Bowel Disease; Sensorineural hearing loss
Penetrance for gene: STXBP3 were set to unknown
Review for gene: STXBP3 was set to AMBER
Added comment: Described as a monogenic cause of VEOIBD (recognised criteria for the R15 panel) in a report published in abstract form (DOI: https://doi.org/10.1053/j.gastro.2017.11.120). 8 patients from 4 unrelated families with defects in STXBP3 reportedly associated with VEO-IBD, bilateral sensorineural hearing loss, and impaired cytotoxic T-lymphocyte function (granule release, stimulated CD107a upregulation). Included on a monogenic IBD gene panel proposed by The Paediatric IBD Porto Group of ESPGHAN (PMID: 33346580).
Sources: Expert Review