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| Skeletal dysplasia v1.153 | DLL4 | Eleanor Williams Added phenotypes Adams-Oliver syndrome 6, 616589 for gene: DLL4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.147 | DLL4 | Tracy Lester reviewed gene: DLL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 26299364; Phenotypes: Adams-Oliver syndrome 6, 616589; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | DLL4 | Eleanor Williams reviewed gene: DLL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | DLL4 |
Eleanor Williams Source NHS GMS was added to DLL4. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Skeletal dysplasia v1.124 | DLL4 | Louise Daugherty Phenotypes for gene: DLL4 were changed from Adams-Oliver syndrome 6 616589 to Adams-Oliver syndrome 6, 616589 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.112 | DLL4 | Sarah Leigh Publications for gene: DLL4 were set to PMID: 26299364 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.111 | DLL4 | Sarah Leigh Classified gene: DLL4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.111 | DLL4 | Sarah Leigh Gene: dll4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.108 | DLL4 |
Rachel Jones gene: DLL4 was added gene: DLL4 was added to Unexplained skeletal dysplasia. Sources: Other Mode of inheritance for gene: DLL4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DLL4 were set to PMID: 26299364 Phenotypes for gene: DLL4 were set to Adams-Oliver syndrome 6 616589 Penetrance for gene: DLL4 were set to Incomplete Review for gene: DLL4 was set to GREEN Added comment: Meester et al PMID: 26299364 using candidate gene approach identified 9 heterozygous mutations in DLL4 (which is a NOTCH ligand) from 91 families - same pathway as other genes previously idetified to cause Adams Oliver syndrome. No functional studies were performed, but software predicted pathogenicity of missense mutations. Evidence of non penetrance in the paper - affected siblings inheriting mutation from seemingly unaffected parent. Sources: Other |
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