Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: ADAM17Comment on list classification: Promoted from Amber to Green. This gene is associated with a phenotype in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association, therefore this gene has been promoted to Green.Created: 3 Aug 2021, 8:06 a.m. | Last Modified: 3 Aug 2021, 8:06 a.m.
Panel Version: 1.22
Comment on publications: Previously:
functional/mouse model evidence that ADAM17 deficiency leads to colitis - 22236242, 27077118, 21041656, 20603312,19299578Created: 3 Aug 2021, 7:59 a.m. | Last Modified: 3 Aug 2021, 7:59 a.m.
Panel Version: 1.20
Comment on list classification: Green review from expert reviewer, and found in 2/4 original sources, though only one family report found for association with neonatal inflammatory bowel disease (a sister and brother with neonatal inflammatory skin and bowel lesions) - PMID: 22010916, after an extensive literature search. There is functional/mouse model evidence to support the association, and ADAM17 is known to have a role in controlling inflammation and tissue regeneration (PMID: 21752713).Created: 12 Oct 2016, 8:54 a.m.
Associated with phenotype in OMIM, not in G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel. One homozygous variant reported
Created: 5 Sep 2016, 10:22 a.m.
Gene: adam17 has been classified as Green List (High Evidence).
Phenotypes for gene: ADAM17 were changed from ADAM-17 deficiency; Inflammatory skin and bowel disease, neonatal, 1 614328 to ADAM-17 deficiency; ?Inflammatory skin and bowel disease, neonatal, 1, OMIM:614328
Publications for gene: ADAM17 were set to 22010916; functional/mouse model evidence that ADAM17 deficiency leads to colitis - 22236242, 27077118, 21041656, 20603312,19299578
14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
This gene has been classified as Amber List (Moderate Evidence).
Publications for ADAM17 were set to 22010916; functional/mouse model evidence that ADAM17 deficiency leads to colitis - 22236242, 27077118, 21041656, 20603312,19299578
Publications for ADAM17 were set to 22010916; functional/mouse model evidence that ADAM17 deficiency leads to colitis - 22236242; 27077118, 21041656, 20603312, 19299578
Publications for ADAM17 were set to 22010916; functional/mouse model evidence that ADAM17 deficiency leads to colitis - 27077118, 21041656, 20603312, 19299578
Publications for ADAM17 were set to 22010916
ADAM17 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN
Phenotypes for gene ADAM17 were set to ADAM-17 deficiency; Inflammatory skin and bowel disease, neonatal, 1 614328
ADAM17 was created by ellenmcdonagh
ADAM17 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list