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| Limb disorders v7.27 | RSG1 | Ida Ertmanska changed review comment from: Comment on list classification: There are 2 unrelated individuals reported in literature with biallelic RSG1 and polydactyly. Knockout Rsg1-/- mice showed polydactyly and early lethality. Hence, this gene should be promoted to Green at the next update.; to: Comment on list classification: There are 2 unrelated individuals reported in literature with biallelic RSG1 and polydactyly. Knockout Rsg1-/- mice showed polydactyly and early lethality. Hence, this gene should be promoted to Green at the next update. Inclusion on this panel also ensures inclusion on R27 Paediatric disorders panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v7.27 | RSG1 | Ida Ertmanska Classified gene: RSG1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v7.27 | RSG1 | Ida Ertmanska Added comment: Comment on list classification: There are 2 unrelated individuals reported in literature with biallelic RSG1 and polydactyly. Knockout Rsg1-/- mice showed polydactyly and early lethality. Hence, this gene should be promoted to Green at the next update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v7.27 | RSG1 | Ida Ertmanska Gene: rsg1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v7.26 | RSG1 |
Ida Ertmanska gene: RSG1 was added gene: RSG1 was added to Limb disorders. Sources: Literature Q2_26_promote_green tags were added to gene: RSG1. Mode of inheritance for gene: RSG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RSG1 were set to 29038301; 40593758 Phenotypes for gene: RSG1 were set to ciliopathy, MONDO:0005308; polydactyly, MONDO:0021003 Review for gene: RSG1 was set to GREEN Added comment: PMID 40593758 Vazquez et al., 2025 Three individuals from unrelated families reported with biallelic RSG1 variants: c.226G>C (p.Ala76Pro); c.G353A (p.Gly118Glu); c.562C>T (p.Arg188Trp). Case 1) Polyhydramnios, bilateral pre-and post-axial polydactyly on hands and feet, hypertelorism, high arched palate. Case 2) aortic coarctation cardiac septal defect and post-axial polydactyly in one hand and pre-axial polydactyly on both feet. Case 3) hypoplastic and cystic dysplastic kidneys, oligohydramnios, microcephaly, and IUGR. Functional evidence: PMID: 29038301 Agbu et al., 2018 - Rsg1 is essential for ciliogenesis in mice. The Rsg1-/- mice showed completely penetrant polydactyly on all limbs and lethality at embryonic day 12.5. Rsg1 mutant embryos have fewer primary cilia than wild-type embryos. Sources: Literature |
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