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| Mendeliome v2.0 | TEK | Gene migrated from ENSG00000120156 to ENSG00000120156 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v1.3600 | Chirag Patel Copied gene TEKT1 from panel Ciliary Dyskinesia | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3600 | TEKT1 |
Chirag Patel gene: TEKT1 was added gene: TEKT1 was added to Mendeliome. Sources: Expert Review Red,ClinGen disputed tags were added to gene: TEKT1. Mode of inheritance for gene: TEKT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TEKT1 were set to Primary ciliary dyskinesia, MONDO:0016575 |
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| Mendeliome v1.3464 | TEKT3 | Zornitza Stark Marked gene: TEKT3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3464 | TEKT3 | Zornitza Stark Gene: tekt3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3464 | Zornitza Stark Copied gene TEKT3 from panel Infertility and Recurrent Pregnancy Loss | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3464 | TEKT3 |
Zornitza Stark gene: TEKT3 was added gene: TEKT3 was added to Mendeliome. Sources: Expert Review Amber,Literature Mode of inheritance for gene: TEKT3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TEKT3 were set to 36708031 Phenotypes for gene: TEKT3 were set to Spermatogenic failure, MONDO:0004983, TEKT3-related |
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| Mendeliome v0.11980 | TEK | Zornitza Stark Marked gene: TEK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11980 | TEK | Zornitza Stark Gene: tek has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11980 | TEK | Zornitza Stark Phenotypes for gene: TEK were changed from to Glaucoma 3, primary congenital, E, MIM# 617272; Venous malformations, multiple cutaneous and mucosal, MIM# 600195 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11979 | TEK | Zornitza Stark Publications for gene: TEK were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11978 | TEK | Zornitza Stark Mode of inheritance for gene: TEK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11977 | TEK | Zornitza Stark reviewed gene: TEK: Rating: GREEN; Mode of pathogenicity: None; Publications: 27270174, 19888299; Phenotypes: Glaucoma 3, primary congenital, E, MIM# 617272, Venous malformations, multiple cutaneous and mucosal, MIM# 600195; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | TEK |
Zornitza Stark gene: TEK was added gene: TEK was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TEK was set to Unknown |
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