| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v2.0 | ADAM17 | Gene migrated from ENSG00000151694 to ENSG00000151694 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4965 | ADAM17 | Zornitza Stark Publications for gene: ADAM17 were set to 22010916; 25804906; 21041656; 22236242 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4964 | ADAM17 | Zornitza Stark Mode of inheritance for gene: ADAM17 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4963 | ADAM17 | Zornitza Stark edited their review of gene: ADAM17: Changed phenotypes: Hypotrichosis 16, MIM# 621490, Inflammatory skin and bowel disease, neonatal, 1, MIM# 614328; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4963 | 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.; Changed publications: 38771644, 42015567, 40968583, 34993966 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4963 | ADAM17 | Zornitza Stark edited their review of gene: ADAM17: Added comment: 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.; Changed rating: GREEN; Changed publications: 38771644, 42015567, 40968583 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4963 | ADAM17 | Zornitza Stark edited their review of gene: ADAM17: Added comment: 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: 38771644, 42015567 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4235 | ADAM17 | Zornitza Stark changed review comment from: Missense variant identified in 7 individuals from a 4-generation family. Supportive mouse model. RED for this MOI.; to: Association with hypotrichosis: missense variant identified in 7 individuals from a 4-generation family. Supportive mouse model. RED for this MOI. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4235 | ADAM17 | Zornitza Stark changed review comment from: Comment when marking as ready: Association with IBD -- two families and a mouse model.; to: Comment when marking as ready: Association with IBD -- two families and a mouse model. GREEN for this MOI/association. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4235 | ADAM17 | Zornitza Stark changed review comment from: Comment when marking as ready: Two families and a mouse model.; to: Comment when marking as ready: Association with IBD -- two families and a mouse model. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4235 | ADAM17 | Zornitza Stark edited their review of gene: ADAM17: Added comment: Missense variant identified in 7 individuals from a 4-generation family. Supportive mouse model. RED for this MOI.; Changed rating: RED; Changed publications: 38771644; Changed phenotypes: Hypotrichosis 16, MIM# 621490; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1792 | ADAM17 | Zornitza Stark Marked gene: ADAM17 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1792 | ADAM17 | Zornitza Stark Added comment: Comment when marking as ready: Two families and a mouse model. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1792 | ADAM17 | Zornitza Stark Gene: adam17 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1792 | ADAM17 | Zornitza Stark Phenotypes for gene: ADAM17 were changed from to Inflammatory neonatal-onset skin and bowel disease, MIM#614328 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1791 | ADAM17 | Zornitza Stark Publications for gene: ADAM17 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1790 | ADAM17 | Zornitza Stark Mode of inheritance for gene: ADAM17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1789 | ADAM17 | Zornitza Stark Classified gene: ADAM17 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1789 | ADAM17 | Zornitza Stark Gene: adam17 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1774 | ADAM17 | Lauren Akesson reviewed gene: ADAM17: Rating: AMBER; Mode of pathogenicity: None; Publications: 22010916, 25804906, 21041656, 22236242; Phenotypes: Inflammatory neonatal-onset skin and bowel disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | ADAM17 |
Zornitza Stark gene: ADAM17 was added gene: ADAM17 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ADAM17 was set to Unknown |
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