Activity
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| Limb disorders v7.29 | SCNM1 | Ida Ertmanska Classified gene: SCNM1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v7.29 | SCNM1 | Ida Ertmanska Added comment: Comment on list classification: There are 7 unrelated families reported in literature where individuals harbouring biallelic SCNM1 variants presented with polydactyly, sometimes together with syndactyly and brachydactyly. Hence, this gene should be promoted to Green at the next update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v7.29 | SCNM1 | Ida Ertmanska Gene: scnm1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v7.28 | SCNM1 |
Ida Ertmanska gene: SCNM1 was added gene: SCNM1 was added to Limb disorders. 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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