Activity
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| Skeletal dysplasia v8.46 | SCNM1 | Ida Ertmanska Classified gene: SCNM1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v8.46 | SCNM1 | Ida Ertmanska Added comment: Comment on list classification: There are 3 unrelated families reported in literature where individuals harbouring biallelic SCNM1 variants presented skeletal dysplasia features, such as mesomelic arm and / or leg shortening. Hence, this gene should be promoted to Green at the next update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v8.46 | SCNM1 | Ida Ertmanska Gene: scnm1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v8.45 | SCNM1 |
Ida Ertmanska gene: SCNM1 was added gene: SCNM1 was added to Skeletal dysplasia. Sources: Literature Q2_26_promote_green tags were added to gene: SCNM1. Mode of inheritance for gene: SCNM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCNM1 were set to 36084634; 41291844 Phenotypes for gene: SCNM1 were set to Orofaciodigital syndrome XIX, OMIM:620107; orofaciodigital syndrome 19, MONDO:0859310 Review for gene: SCNM1 was set to GREEN Added comment: PMID: 36084634 Iturrate et al., 2022 4 individuals from 3 unrelated families with orofaciodigital syndrome. All 4 presented with tongue nodules, hypodontia / microdontia, facial dysmorphism, polydactyly, syndactyly of the toes, type A brachydactyly. 1 individual had a cleft palate. Skeletal features (mesomelic leg/arm shortening, short tibia) were present in 4/4 individuals. No ID/GDD. SCNM1 homozygous variants detected: c.187delC, p.Arg63Valfsā33; c.152C>A, p.Pro51Gln; and c.301_302insAluYc1 insertion. Functional evidence: Primary fibroblasts containing SCNM1 mutations, as well as SCNM1 knockout and SCNM1 knockdown RPE-1 cells, were also found with abnormally elongated cilia. PMID: 41291844 Iturrate et al., 2025 Report of five new patients from four unrelated families with bi-allelic variants in SCNM1. Phenotype: bilateral postaxial polydactyly of hands and feet (5/5), dysmorphic features, ID/GDD (3 unrelated individuals), mesomelic leg shortening (2/4), cleft palate (1/4), hypodontia / microdontia (1/3). Molar tooth sign absent on MRI. Sources: Literature |
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