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| Skeletal dysplasia v1.153 | SMOC1 | Eleanor Williams Added phenotypes Microphthalmia with limb anomalies 206920; Ophthalmo-acromelic syndrome; Polydactyly for gene: SMOC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.147 | SMOC1 | Tracy Lester reviewed gene: SMOC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21194678, 21194680; Phenotypes: Ophthalmo-acromelic syndrome, Microphthalmia with limb anomalies 206920, Polydactyly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | SMOC1 | Eleanor Williams edited their review of gene: SMOC1: 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: SMOC1; Initial rating suggestion: green; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | SMOC1 |
Eleanor Williams Source NHS GMS was added to SMOC1. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Skeletal dysplasia v1.116 | SMOC1 | Eleanor Williams Classified gene: SMOC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.116 | SMOC1 | Eleanor Williams Added comment: Comment on list classification: Rated green as sufficient number of cases/families. Reviewed by Genomics England clinical team as appropriate for this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.116 | SMOC1 | Eleanor Williams Gene: smoc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.115 | SMOC1 |
Eleanor Williams gene: SMOC1 was added gene: SMOC1 was added to Unexplained skeletal dysplasia. Sources: Expert Review Mode of inheritance for gene: SMOC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMOC1 were set to 21194678; 21194680 Phenotypes for gene: SMOC1 were set to Ophthalmo-acromelic syndrome; Microphthalmia with limb anomalies 206920; Polydactyly Review for gene: SMOC1 was set to GREEN Added comment: Sourced from Genetic Home Reference. >3 cases/family reports for homozygous loss of function variants in this gene, in affacted individuals with microphthalmia with limb anomalies (see publications). This is a confirmed DD gene for OPHTHALMOACROMELIC SYNDROME. HPO terms from Gene2Phenotype include Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Hand oligodactyly, Postaxial foot polydactyly, Postaxial hand polydactyly, Toe syndactyly. Sources: Expert Review |
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