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| Intellectual disability syndromic and non-syndromic v2.85 | SMC6 | chirag patel Marked gene: SMC6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v2.85 | SMC6 | chirag patel Gene: smc6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v2.85 | SMC6 | chirag patel Classified gene: SMC6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v2.85 | SMC6 | chirag patel Gene: smc6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v2.84 | SMC6 |
chirag patel gene: SMC6 was added gene: SMC6 was added to Intellectual disability syndromic and non-syndromic. Sources: Other Mode of inheritance for gene: SMC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SMC6 were set to Neurodevelopmental disorder, MONDO:0700092, SMC6-related Review for gene: SMC6 was set to AMBER Added comment: ESHG 2026 17 affected individuals from 2 families (1 consanguineous family with 16 individuals) with biallelic variants in SMC6 (3 missense) which segregated with disease. Phenotype included microcephaly (1 family), short stature, DD/ID (1 family), dysmorphism (Seckel like), haematological anomalies (1 family), and lung disease (1 family). SMC5/6 complex is a highly conserved multi-subunit protein complex essential for repairing DNA damage and preventing replication stress. SMC5 has been associated with a developmental disorder. SMC6 patient-derived cell lines display a shared cellular phenotype (to SMC5) typified by chromosome instability with elevated replication stress and genome instability, exacerbated when exposed to genotoxins that stabilise G-quadruplex structures. Zebrafish models showed microcephaly and reduced length. Sources: Other |
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