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| Inflammatory bowel disease v1.0 | ADAM17 | Gene migrated from ENSG00000151694 to ENSG00000151694 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.127 | ADAM17 | Zornitza Stark Publications for gene: ADAM17 were set to 22010916; 29560122; 26683521; 25804906 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.126 | ADAM17 |
Zornitza Stark edited their review of gene: ADAM17: Added comment: PMID 34993966: single individual with biallelic loss‑of‑function ADAM17 variants (c.2082+2dupT and c.620-385_843+1015del) presenting with neonatal inflammatory skin and bowel disease type 1 (erythroderma, atrichia, nail dystrophy, oesophageal stricture, intractable diarrhoea, failure‑to‑thrive, recurrent infections). The splice variant causes exon 17 skipping; the deletion removes exons 6‑7. Skin improved with combined ustekinumab and certolizumab; intestinal disease responded to budesonide. PMID 40968583 reports another individual with homozygous splice site variant presenting with neonatal inflammatory skin and bowel disease, chronic diarrhoea, failure to thrive, pustular rash, and recurrent bacterial infections. PMID 42015567: reports single individual with a homozygous missense ADAM17 variant presenting with severe cutaneous inflammation, mucosal ulcerations, annular scarring, developmental delay and no bowel disease.; Changed publications: 22010916, 29560122, 26683521, 25804906, 34993966, 40968583, 42015567 |
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| Inflammatory bowel disease v0.13 | ADAM17 | Zornitza Stark Marked gene: ADAM17 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.13 | ADAM17 | Zornitza Stark Gene: adam17 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.13 | ADAM17 | Zornitza Stark Classified gene: ADAM17 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.13 | ADAM17 | Zornitza Stark Gene: adam17 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.12 | ADAM17 |
Zornitza Stark gene: ADAM17 was added gene: ADAM17 was added to Inflammatory bowel disease. Sources: Expert Review Mode of inheritance for gene: ADAM17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAM17 were set to 22010916; 29560122; 26683521; 25804906 Phenotypes for gene: ADAM17 were set to Inflammatory skin and bowel disease, neonatal, 1, MIM# 614328; Recurrent infections Review for gene: ADAM17 was set to GREEN Added comment: Three unrelated families reported, inflammatory bowel disease was prominent in two; support from mouse model. Sources: Expert Review |
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