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| Mendeliome v2.0 | SEPTIN2 | Gene symbol changed from SEPT2 to SEPTIN2 during gene set migration (ENSG00000168385 -> ENSG00000168385) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4108 | SEPT2 |
Chirag Patel gene: SEPT2 was added gene: SEPT2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SEPT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SEPT2 were set to 41408595 Phenotypes for gene: SEPT2 were set to Neurodevelopmental disorder, MONDO:0700092, SEPTIN2-related Review for gene: SEPT2 was set to GREEN Added comment: 7 individuals from 6 families (5 unrelated) with heterozygous missense SEPTIN2 variants causing a neurodevelopmental disorder. Clinical features included developmental delay/intellectual disability (6/7), hearing loss (4/7), cleft palate (3/7), ptosis (3/7), septal heart defect (2/7), syndactyly (2/7), and ADHD (2/7). Most variants were de novo (5 families) except 1 family where the variant was inherited from an affected mother. Functional assays demonstrated dominant‑negative disruption of Septin‑2 homodimerisation and axon initial segment formation. Expression of mutant Septin-2 constructs in neurons leads to the disappearance of canonical hallmarks of the axon initial segment. Sources: Literature |
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