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| Mendeliome v1.3037 | SCN3B | Zornitza Stark Marked gene: SCN3B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3037 | SCN3B | Zornitza Stark Gene: scn3b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3037 | SCN3B | Zornitza Stark Classified gene: SCN3B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3037 | SCN3B | Zornitza Stark Gene: scn3b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2941 | SCN3B |
Sarah Milton gene: SCN3B was added gene: SCN3B was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SCN3B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCN3B were set to PMID: 40879121 Phenotypes for gene: SCN3B were set to Neurodevelopmental disorder, MONDO:0700092, SCN3B-related Review for gene: SCN3B was set to AMBER Added comment: SCN3B Encodes b3 auxiliary subunit of the sodium channel. 4 affected individuals from 2 consanguineous families reported in PMID: 40879121 with biallelic variants in this gene with neurodevelopmental phenotypes. Presentation included GDD, ID of variable severity, autism, seizures. One variant was nonsense, one canonical splice site in the penultimate exon. No homozygous LOF variants in gnomAD v4. Some functional studies performed with loss of function of channel demonstrated for one variant. Sources: Literature |
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