Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v6.9 | 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 have fewer prmary cilia, resulting in polydactyly and early lethality. Hence, this gene should be promoted to Green at the next update. Inclusion on this panel also ensures inclusion on the Rare multisystem ciliopathy Super panel.; to: Comment on list classification: There are 2 unrelated individuals reported in literature with biallelic RSG1 and polydactyly. Knockout Rsg1-/- mice have fewer primary cilia, resulting in polydactyly and early lethality. Hence, this gene should be promoted to Green at the next update. Inclusion on this panel also ensures inclusion on the Rare multisystem ciliopathy Super panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v6.9 | RSG1 | Ida Ertmanska Classified gene: RSG1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v6.9 | 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 have fewer prmary cilia, resulting in polydactyly and early lethality. Hence, this gene should be promoted to Green at the next update. Inclusion on this panel also ensures inclusion on the Rare multisystem ciliopathy Super panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v6.9 | RSG1 | Ida Ertmanska Gene: rsg1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v6.8 | RSG1 |
Ida Ertmanska gene: RSG1 was added gene: RSG1 was added to Skeletal ciliopathies. 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||