Activity
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| Amelogenesis imperfecta v4.40 | SMOC2 | Ida Ertmanska Classified gene: SMOC2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v4.40 | SMOC2 | Ida Ertmanska Gene: smoc2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v4.39 | SMOC2 | Ida Ertmanska changed review comment from: Comment on list classification: After review by the Genomics England Clinical Team, it was decided that Dentin Dysplasia is not in scope of the Amelogenesis imperfecta (AI) panel, as it is readily distinguishable from AI by dental specialists. Individuals reported with SMOC2 variants do not present with osteogenesis imperfecta. However, oligodontia and tooth shape abnormalities associated with this gene can be investigated through the R163 Ectodermal dysplasia panel. Hence, the rating should remain Red for Amelogenesis imperfecta, but SMOC2 will be proposed for promotion on the Ectodermal dysplasia panel.; to: Comment on list classification: After review by the Genomics England Clinical Team, it was decided that Dentin Dysplasia is not in scope of the Amelogenesis imperfecta (AI) panel, as it is readily distinguishable from AI by dental specialists. Individuals reported with SMOC2 variants do not present with osteogenesis imperfecta, either. However, oligodontia and tooth shape abnormalities associated with this gene can be investigated through the R163 Ectodermal dysplasia panel. Hence, the rating should remain Red for Amelogenesis imperfecta, but SMOC2 will be proposed for promotion on the Ectodermal dysplasia panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v4.39 | SMOC2 | Ida Ertmanska edited their review of gene: SMOC2: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v4.39 | SMOC2 | Ida Ertmanska commented on gene: SMOC2: Comment on list classification: After review by the Genomics England Clinical Team, it was decided that Dentin Dysplasia is not in scope of the Amelogenesis imperfecta (AI) panel, as it is readily distinguishable from AI by dental specialists. Individuals reported with SMOC2 variants do not present with osteogenesis imperfecta. However, oligodontia and tooth shape abnormalities associated with this gene can be investigated through the R163 Ectodermal dysplasia panel. Hence, the rating should remain Red for Amelogenesis imperfecta, but SMOC2 will be proposed for promotion on the Ectodermal dysplasia panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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