Activity
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7 actions
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| Severe microcephaly v6.6 | SMC5 | Sarah Leigh Tag Q2_24_promote_green was removed from gene: SMC5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v6.6 | SMC5 | Eleanor Williams reviewed gene: SMC5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v6.5 | SMC5 |
Sarah Leigh Source NHS GMS was added to SMC5. Source Expert Review Green was added to SMC5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Severe microcephaly v5.10 | SMC5 | Achchuthan Shanmugasundram Classified gene: SMC5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v5.10 | SMC5 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (three unrelated cases) for the association of this gene with green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v5.10 | SMC5 | Achchuthan Shanmugasundram Gene: smc5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v5.9 | SMC5 |
Achchuthan Shanmugasundram gene: SMC5 was added gene: SMC5 was added to Severe microcephaly. Sources: Literature Q2_24_promote_green tags were added to gene: SMC5. Mode of inheritance for gene: SMC5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMC5 were set to 36333305 Phenotypes for gene: SMC5 were set to Atelis syndrome 2, OMIM:620185 Review for gene: SMC5 was set to GREEN Added comment: PMID:36333305 reported four individuals from three families with a chromosome breakage disorder and biallelic SMC5 variants. Three individuals from two families were identified with the same homozygous missense variant (p.His990Asp), while the other individual had compound heterozygous variants (p.Arg372del & p.Arg425Ter). All four patients presented with markedly severe microcephaly and reduction in height. Evidence for functional impact of the variant was limited. However, zebrafish model recapitulated the phenotype and was not rescued by the introduction of this variant, arguing for functional effect. This gene has been associated with relevant phenotype in both OMIM (MIM #620185) and Gene2Phenotype (with 'moderate' rating on the DD panel). Sources: Literature |
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