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| Skeletal dysplasia v1.104 | SCNM1 |
chirag patel changed review comment from: PMID 36084634 and PMID 41291844 report a total of 9 individuals from 7 independent consanguineous families with biallelic loss‑of‑function SCNM1 variants presenting with orofaciodigital syndrome 19. Clinical features included: bilateral postaxial polydactyly, foot syndactyly, short limbs, tongue hamartomas, micro/retrognathia, arched/cleft palate, hypo/microdontia with missing incisors, talipes equinovarus, delayed speech and brain anomalies. Variants were frameshift, missense, splice, and AluYc1 sequence insertion) with segregation confirmed in all families. Functional studies including a minigene splice assay, SCNM1 knock‑out/knock‑down in RPE‑1 cells and patient‑fibroblast rescue experiments demonstrate reduced SCNM1 protein, defective U12‑type intron splicing, elongated primary cilia and impaired Hedgehog signalling, confirming loss‑of‑function as the disease mechanism. Sources: Literature; to: PMID 36084634 and PMID 41291844 report a total of 9 individuals from 7 independent consanguineous families with biallelic loss‑of‑function SCNM1 variants presenting with orofaciodigital syndrome 19. Clinical features included: bilateral postaxial polydactyly, foot syndactyly, bifid halluces, short limbs, tongue hamartomas, micro/retrognathia, arched/cleft palate, hypo/microdontia with missing incisors, talipes equinovarus, developmental delay and brain anomalies. Variants were frameshift, missense, splice, and AluYc1 sequence insertion) with segregation confirmed in all families. Functional studies including a minigene splice assay, SCNM1 knock‑out/knock‑down in RPE‑1 cells and patient‑fibroblast rescue experiments demonstrate reduced SCNM1 protein, defective U12‑type intron splicing, elongated primary cilia and impaired Hedgehog signalling, confirming loss‑of‑function as the disease mechanism. Sources: Literature |
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| Skeletal dysplasia v1.104 | SCNM1 |
chirag patel changed review comment from: PMID 36084634 and PMID 41291844 report a total of 5 individuals from 4 independent consanguineous families with biallelic loss‑of‑function SCNM1 variants presenting with orofaciodigital syndrome 19, a disorder characterised by oral, facial and digital anomalies, limb shortening, polydactyly, tibial hemimelia and neurodevelopmental delay. Variants were frameshift, missense, splice, and AluYc1 sequence insertion) with segregation confirmed in all families. Functional studies including a minigene splice assay, SCNM1 knock‑out/knock‑down in RPE‑1 cells and patient‑fibroblast rescue experiments demonstrate reduced SCNM1 protein, defective U12‑type intron splicing, elongated primary cilia and impaired Hedgehog signalling, confirming loss‑of‑function as the disease mechanism. Sources: Literature; to: PMID 36084634 and PMID 41291844 report a total of 9 individuals from 7 independent consanguineous families with biallelic loss‑of‑function SCNM1 variants presenting with orofaciodigital syndrome 19. Clinical features included: bilateral postaxial polydactyly, foot syndactyly, short limbs, tongue hamartomas, micro/retrognathia, arched/cleft palate, hypo/microdontia with missing incisors, talipes equinovarus, delayed speech and brain anomalies. Variants were frameshift, missense, splice, and AluYc1 sequence insertion) with segregation confirmed in all families. Functional studies including a minigene splice assay, SCNM1 knock‑out/knock‑down in RPE‑1 cells and patient‑fibroblast rescue experiments demonstrate reduced SCNM1 protein, defective U12‑type intron splicing, elongated primary cilia and impaired Hedgehog signalling, confirming loss‑of‑function as the disease mechanism. Sources: Literature |
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| Skeletal dysplasia v1.104 | SCNM1 | chirag patel Classified gene: SCNM1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.104 | SCNM1 | chirag patel Gene: scnm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.103 | SCNM1 | chirag patel Marked gene: SCNM1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.103 | SCNM1 | chirag patel Gene: scnm1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.103 | SCNM1 |
chirag patel gene: SCNM1 was added gene: SCNM1 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: SCNM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCNM1 were set to 41291844; 36084634 Phenotypes for gene: SCNM1 were set to Orofaciodigital syndrome 19, MONDO:0859310 Review for gene: SCNM1 was set to GREEN Added comment: PMID 36084634 and PMID 41291844 report a total of 5 individuals from 4 independent consanguineous families with biallelic loss‑of‑function SCNM1 variants presenting with orofaciodigital syndrome 19, a disorder characterised by oral, facial and digital anomalies, limb shortening, polydactyly, tibial hemimelia and neurodevelopmental delay. Variants were frameshift, missense, splice, and AluYc1 sequence insertion) with segregation confirmed in all families. Functional studies including a minigene splice assay, SCNM1 knock‑out/knock‑down in RPE‑1 cells and patient‑fibroblast rescue experiments demonstrate reduced SCNM1 protein, defective U12‑type intron splicing, elongated primary cilia and impaired Hedgehog signalling, confirming loss‑of‑function as the disease mechanism. Sources: Literature |
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