Infantile enterocolitis & monogenic inflammatory bowel disease

Gene: ADAM17

Comment 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, 20603312,19299578

Created: 3 Aug 2021, 7:59 a.m. | Last Modified: 3 Aug 2021, 7:59 a.m.

Panel Version: 1.20

Green List (high evidence)

Two families and a mouse model.

Created: 20 Mar 2020, 5:16 a.m. | Last Modified: 20 Mar 2020, 5:16 a.m.

Panel Version: 1.16

Phenotypes
Inflammatory neonatal-onset skin and bowel disease, MIM#614328

Publications

• 22010916
• 25804906
• 21041656
• 22236242

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.

Green List (high evidence)

Red List (low evidence)

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.