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| Skeletal ciliopathies v7.3 | RAB34 |
Achchuthan Shanmugasundram changed review comment from: PMID:37384395 (2023) reported the identification of biallelic missense variants in a novel disease-causing ciliary gene RAB34 in four individuals from three unrelated families.Three different variants were identified in total - p.Arg211His, p.Gly202Val & p.Glu218Lys. Affected individuals presented with a novel form of Orofaciodigital syndrome (OFDS) accompanied by cardiac, cerebral, skeletal and anorectal defects. All probands presented with bilateral cleft palate/lip and bilateral hand and feet polydactyly. PMID: 37619988 (2023) reported a foetus with an atypical skeletal ciliopathy phenotype and compound heterozygous variants in the RAB34 gene. The affected fetus had multiple malformations, including posterior neck edema, micrognathia, low-set and small ears, auricular hypoplasia, cleft lip and palate, short extremities, and a combination of rarely occurring pre- and postaxial polydactyly. The foetus was identified with compound heterozygous variants in the RAB34 gene: p.Ile85Thr & p.Arg231Ter variants. PMID:30301781 (2018) demonstrated that Rab34 localizes to cilia, and that its mutation results in significant decrease of ciliogenesis in both cultured cells and mice. The study also showed that Rab34 mutant mice exhibit polydactyly, and cleft-lip and -palate. These phenotypes are consistent with observations that nonciliated Rab34 mutant cells fail to respond to Hedgehog signaling and that processing of full-length Gli3 to its C-terminally truncated form is reduced in Rab34 mutant embryos. Sources: Literature; to: PMID:37384395 (2023) reported the identification of biallelic missense variants in a novel disease-causing ciliary gene RAB34 in four individuals from three unrelated families.Three different variants were identified in total - p.Arg211His, p.Gly202Val & p.Glu218Lys. Affected individuals presented with a novel form of Orofaciodigital syndrome (OFDS) accompanied by cardiac, cerebral, skeletal and anorectal defects. All probands presented with bilateral cleft palate/lip and bilateral hand and feet polydactyly. PMID: 37619988 (2023) reported a foetus with an atypical skeletal ciliopathy phenotype and compound heterozygous variants in the RAB34 gene. The affected fetus had multiple malformations, including posterior neck edema, micrognathia, low-set and small ears, auricular hypoplasia, cleft lip and palate, short extremities, and a combination of rarely occurring pre- and postaxial polydactyly. The foetus was identified with compound heterozygous variants in the RAB34 gene: p.Ile85Thr & p.Arg231Ter variants. PMID:30301781 (2018) demonstrated that Rab34 localizes to cilia, and that its mutation results in significant decrease of ciliogenesis in both cultured cells and mice. The study also showed that Rab34 mutant mice exhibit polydactyly, and cleft-lip and -palate. These phenotypes are consistent with observations that nonciliated Rab34 mutant cells fail to respond to Hedgehog signaling and that processing of full-length Gli3 to its C-terminally truncated form is reduced in Rab34 mutant embryos. This gene has been associated with relevant phenotypes in OMIM (MIM #620718) and Gene2Phenotype (with 'moderate' rating on the DD panel) and both these records were last accessed on 02 November 2026. Sources: Literature |
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| Skeletal ciliopathies v7.3 | RAB34 |
Achchuthan Shanmugasundram gene: RAB34 was added gene: RAB34 was added to Skeletal ciliopathies. Sources: Literature Mode of inheritance for gene: RAB34 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAB34 were set to 30301781; 37384395; 37619988 Phenotypes for gene: RAB34 were set to Orofaciodigital syndrome XX, OMIM:620718; orofaciodigital syndrome 20, MONDO:0958230 Review for gene: RAB34 was set to GREEN Added comment: PMID:37384395 (2023) reported the identification of biallelic missense variants in a novel disease-causing ciliary gene RAB34 in four individuals from three unrelated families.Three different variants were identified in total - p.Arg211His, p.Gly202Val & p.Glu218Lys. Affected individuals presented with a novel form of Orofaciodigital syndrome (OFDS) accompanied by cardiac, cerebral, skeletal and anorectal defects. All probands presented with bilateral cleft palate/lip and bilateral hand and feet polydactyly. PMID: 37619988 (2023) reported a foetus with an atypical skeletal ciliopathy phenotype and compound heterozygous variants in the RAB34 gene. The affected fetus had multiple malformations, including posterior neck edema, micrognathia, low-set and small ears, auricular hypoplasia, cleft lip and palate, short extremities, and a combination of rarely occurring pre- and postaxial polydactyly. The foetus was identified with compound heterozygous variants in the RAB34 gene: p.Ile85Thr & p.Arg231Ter variants. PMID:30301781 (2018) demonstrated that Rab34 localizes to cilia, and that its mutation results in significant decrease of ciliogenesis in both cultured cells and mice. The study also showed that Rab34 mutant mice exhibit polydactyly, and cleft-lip and -palate. These phenotypes are consistent with observations that nonciliated Rab34 mutant cells fail to respond to Hedgehog signaling and that processing of full-length Gli3 to its C-terminally truncated form is reduced in Rab34 mutant embryos. Sources: Literature |
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| Skeletal ciliopathies v3.22 | GLI3 | Arina Puzriakova Phenotypes for gene: GLI3 were changed from Joubert Syndrome and Senior-Loken Syndrome 24 gene panel to Greig cephalopolysyndactyly syndrome, OMIM:175700; Pallister-Hall syndrome, OMIM:146510 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v0.1 | GLI3 |
Eleanor Williams gene: GLI3 was added gene: GLI3 was added to Skeletal ciliopathies. Sources: UKGTN,Expert list,Expert Review Green Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GLI3 were set to Joubert Syndrome and Senior-Loken Syndrome 24 gene panel |
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