Infantile enterocolitis & monogenic inflammatory bowel disease

Gene: ADAM17

Amber List (moderate evidence)

ADAM17 (ADAM metallopeptidase domain 17)
EnsemblGeneIds (GRCh38): ENSG00000151694
EnsemblGeneIds (GRCh37): ENSG00000151694
OMIM: 603639, Gene2Phenotype
ADAM17 is in 6 panels

4 reviews

Zornitza Stark (Australian Genomics)

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

Ellen McDonagh (Genomics England Curator)

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.

Neil shah (GOSH)

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
Phenotypes
  • ADAM-17 deficiency
  • Inflammatory skin and bowel disease, neonatal, 1 614328
OMIM
603639
Clinvar variants
Variants in ADAM17
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

14 Oct 2016, Gel status: 2

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.

12 Oct 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

12 Oct 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ADAM17 were set to 22010916; functional/mouse model evidence that ADAM17 deficiency leads to colitis - 22236242, 27077118, 21041656, 20603312,19299578

12 Oct 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ADAM17 were set to 22010916; functional/mouse model evidence that ADAM17 deficiency leads to colitis - 22236242; 27077118, 21041656, 20603312, 19299578

12 Oct 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ADAM17 were set to 22010916; functional/mouse model evidence that ADAM17 deficiency leads to colitis - 27077118, 21041656, 20603312, 19299578

5 Sep 2016, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for ADAM17 were set to 22010916

5 Sep 2016, Gel status: 2

Upload gene information

Sarah Leigh (Genomics England Curator)

ADAM17 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN

5 Sep 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene ADAM17 were set to ADAM-17 deficiency; Inflammatory skin and bowel disease, neonatal, 1 614328

10 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ADAM17 was created by ellenmcdonagh

10 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ADAM17 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list