Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: SCGN
As reviewed by Hannah Knight, PMID:31663849 reported three siblings with homozygous missense SCGN variant and with early-onset ulcerative colitis. Functional studies demonstrated that SCGN variant identified impacted the localisation of the SNARE complex partner, SNAP25, leading to impaired hormone release. In addition, SCGN knockout mouse model recapitulated impaired hormone release and susceptibility to DSS-induced colitis.
This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.Created: 14 Feb 2024, 7:35 p.m. | Last Modified: 14 Feb 2024, 7:35 p.m.
Panel Version: 4.182
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ulcerative colitis, MONDO:0005101
Publications
Not linked to a phenotype in OMIM.
PMID: 31663849 (2019) reported three siblings with early onset UC, all with a homozygous missense variant in SCGN (p.Arg77His). Parents were both heterozygous. Some functional work done
Sources: LiteratureCreated: 13 Feb 2024, 11:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?early-onset ulcerative colitis
Publications
Gene: scgn has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: SCGN were changed from ?early-onset ulcerative colitis to ulcerative colitis, MONDO:0005101
Publications for gene: SCGN were set to PMID: 31663849
gene: SCGN was added gene: SCGN was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: SCGN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCGN were set to PMID: 31663849 Phenotypes for gene: SCGN were set to ?early-onset ulcerative colitis Review for gene: SCGN was set to RED