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| Ectodermal dysplasia v5.11 | SMOC2 | Ida Ertmanska Classified gene: SMOC2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v5.11 | SMOC2 | Ida Ertmanska Added comment: Comment on list classification: There are multiple probands reported in literature with biallelic SMOC2 variants and dentin dysplasia, with teeth abnormalities including oligodontia and abnormal tooth shape. Hence, this gene can be promoted to Green at the next update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v5.11 | SMOC2 | Ida Ertmanska Gene: smoc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v5.10 | SMOC2 |
Ida Ertmanska gene: SMOC2 was added gene: SMOC2 was added to Ectodermal dysplasia. Sources: Literature Q3_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. SMOC2 is associated with AR Dentin dysplasia, type IA, OMIM:125400 in OMIM (accessed 5th Jun 2026). Sources: Literature |
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