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  3. SCGN
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Autoinflammatory Disorders

Gene: SCGN

Amber List (moderate evidence)
SCGN (secretagogin, EF-hand calcium binding protein)
EnsemblGeneIds (GRCh38): ENSG00000079689
EnsemblGeneIds (GRCh37): ENSG00000079689
OMIM: 609202, Gene2Phenotype
SCGN is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

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.
Sources: Literature
Created: 15 Feb 2024, 2:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ulcerative colitis, MONDO:0005101

Publications

Created: 15 Feb 2024, 2:48 a.m.

Panel version: 1.33

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ulcerative colitis, MONDO:0005101
OMIM
609202
Clinvar variants
Variants in SCGN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Feb 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: scgn has been classified as Amber List (Moderate Evidence).

15 Feb 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: scgn has been classified as Amber List (Moderate Evidence).

15 Feb 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SCGN was added gene: SCGN was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature Mode of inheritance for gene: SCGN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCGN were set to 31663849 Phenotypes for gene: SCGN were set to ulcerative colitis, MONDO:0005101 Review for gene: SCGN was set to AMBER