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| Skeletal dysplasia v1.153 | NOTCH1 |
Eleanor Williams Added phenotypes Limb, scalp and skull defects; AOS; Combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly); Adams-Oliver syndrome 5, 616028 for gene: NOTCH1 Publications for gene NOTCH1 were changed from 25132448; 25963545; 27077170; 25132448 to 25963545; 25132448; 27077170 |
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| Skeletal dysplasia v1.147 | NOTCH1 | Tracy Lester reviewed gene: NOTCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25132448, 25963545, 27077170, 25132448; Phenotypes: Adams-Oliver syndrome 5, 616028, Combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly), AOS, Limb, scalp and skull defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | NOTCH1 | Eleanor Williams edited their review of gene: NOTCH1: Added comment: This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: NOTCH1; Initial rating suggestion: green; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | NOTCH1 |
Eleanor Williams Source NHS GMS was added to NOTCH1. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Skeletal dysplasia v1.117 | NOTCH1 | Eleanor Williams Classified gene: NOTCH1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.117 | NOTCH1 | Eleanor Williams Added comment: Comment on list classification: Rated as green as there are sufficient number of cases/families and Genomics England clinical team have reviewed as being relevant to this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.117 | NOTCH1 | Eleanor Williams Gene: notch1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.114 | NOTCH1 |
Eleanor Williams gene: NOTCH1 was added gene: NOTCH1 was added to Unexplained skeletal dysplasia. Sources: Expert Review Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NOTCH1 were set to 25132448; 25963545; 27077170; 25132448 Phenotypes for gene: NOTCH1 were set to Adams-Oliver syndrome 5, 616028; Combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly); AOS; Limb, scalp and skull defects Review for gene: NOTCH1 was set to GREEN Added comment: There are more than three unrelated cases reported for variants in NOTCH1 causing Adams-Oliver type 5 syndrome Sources: Expert Review |
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