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| Amelogenesis imperfecta v4.35 | SMOC2 |
Ida Ertmanska changed review comment from: PMID: 22152679 Bloch-Zupan et al., 2011 Report of a severe developmental dental defect that results in a dentin dysplasia phenotype with major microdontia, oligodontia, and shape abnormalities in a highly consanguineous family. 2 affected children were found to carry a homozygous mutation in SMOC2: c.84+1G>T. Unaffected sibs were heterozygous for the variant. Method: Homozygosity mapping, WES, direct sequencing - SMOC2 was poorly covered on exome. Knockdown of smoc2 in zebrafish showed pharyngeal teeth that had abnormalities reminiscent of the human phenotype. PMID: 23317772 Alfawaz et al., 2013 Consanguineous Pakistani family with oligodontia and microdontia. WES detected a homozygous SMOC2 c.681T>A (p.C227X) mutation in 2 affected individuals. PMID: 32908163 Morkmued et al., 2020 Same group as PMID: 22152679 Bloch-Zupan et al. Follow up of a 9yo female patient from the 2011 study. Radiographs showed severe oligodontia, microdontia, tooth root deficiencies, alveolar bone hypoplasia, and some skeletal dysplasia features: hyperlordotic curved spinal column, platyspondyly, wider iliac wings. Mouse model: homozygous smoc2 mutant mice had tooth number anomalies, reduced tooth size, altered enamel prism patterning, and spontaneous age-induced periodontal bone and root loss, supportive of disease association. Sources: Literature; to: PMID: 22152679 Bloch-Zupan et al., 2011 Report of a severe developmental dental defect that results in a dentin dysplasia phenotype with major microdontia, oligodontia, and shape abnormalities in a highly consanguineous family. 2 affected children were found to carry a homozygous mutation in SMOC2: c.84+1G>T. Unaffected sibs were heterozygous for the variant. Method: Homozygosity mapping, WES, direct sequencing - SMOC2 was poorly covered on exome. Knockdown of smoc2 in zebrafish showed pharyngeal teeth that had abnormalities reminiscent of the human phenotype. PMID: 23317772 Alfawaz et al., 2013 Consanguineous Pakistani family with oligodontia and microdontia. WES detected a homozygous SMOC2 c.681T>A (p.C227X) mutation in 2 affected individuals. PMID: 32908163 Morkmued et al., 2020 Same group as PMID: 22152679 Bloch-Zupan et al. Follow up of a 9yo female patient from the 2011 study. Radiographs showed severe oligodontia, microdontia, tooth root deficiencies, alveolar bone hypoplasia, and some skeletal dysplasia features: hyperlordotic curved spinal column, platyspondyly, wider iliac wings. Mouse model: homozygous smoc2 mutant mice had tooth number anomalies, reduced tooth size, altered enamel prism patterning, and spontaneous age-induced periodontal bone and root loss, supportive of disease association. SMOC2 is associated with AR Dentin dysplasia, type IA, OMIM:125400 in OMIM (accessed 5th Jun 2026). Sources: Literature |
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| Amelogenesis imperfecta v4.35 | SMOC2 | Ida Ertmanska Tag Q2_26_promote_green was removed from gene: SMOC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v4.35 | SMOC2 | Ida Ertmanska Classified gene: SMOC2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v4.35 | SMOC2 | Ida Ertmanska Gene: smoc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v4.34 | SMOC2 |
Ida Ertmanska gene: SMOC2 was added gene: SMOC2 was added to Amelogenesis imperfecta. Sources: Literature Q2_26_promote_green tags were added to gene: SMOC2. Mode of inheritance for gene: SMOC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMOC2 were set to 22152679; 23317772; 32908163 Phenotypes for gene: SMOC2 were set to Dentin dysplasia, type IA, OMIM:125400; atypical dentin dysplasia due to SMOC2 deficiency, MONDO:0017819; dentin dysplasia type 1 with microdontia and shape anomalies Review for gene: SMOC2 was set to GREEN Added comment: PMID: 22152679 Bloch-Zupan et al., 2011 Report of a severe developmental dental defect that results in a dentin dysplasia phenotype with major microdontia, oligodontia, and shape abnormalities in a highly consanguineous family. 2 affected children were found to carry a homozygous mutation in SMOC2: c.84+1G>T. Unaffected sibs were heterozygous for the variant. Method: Homozygosity mapping, WES, direct sequencing - SMOC2 was poorly covered on exome. Knockdown of smoc2 in zebrafish showed pharyngeal teeth that had abnormalities reminiscent of the human phenotype. PMID: 23317772 Alfawaz et al., 2013 Consanguineous Pakistani family with oligodontia and microdontia. WES detected a homozygous SMOC2 c.681T>A (p.C227X) mutation in 2 affected individuals. PMID: 32908163 Morkmued et al., 2020 Same group as PMID: 22152679 Bloch-Zupan et al. Follow up of a 9yo female patient from the 2011 study. Radiographs showed severe oligodontia, microdontia, tooth root deficiencies, alveolar bone hypoplasia, and some skeletal dysplasia features: hyperlordotic curved spinal column, platyspondyly, wider iliac wings. Mouse model: homozygous smoc2 mutant mice had tooth number anomalies, reduced tooth size, altered enamel prism patterning, and spontaneous age-induced periodontal bone and root loss, supportive of disease association. Sources: Literature |
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