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| Mendeliome v2.100 | CEP43 | Zornitza Stark Marked gene: CEP43 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.100 | CEP43 | Zornitza Stark Gene: cep43 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.100 | CEP43 | Zornitza Stark Classified gene: CEP43 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.100 | CEP43 | Zornitza Stark Gene: cep43 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.99 | CEP43 |
Zornitza Stark gene: CEP43 was added gene: CEP43 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: CEP43 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP43 were set to 41715205 Phenotypes for gene: CEP43 were set to Ciliopathy, MONDO:0005308, CEP43-related Review for gene: CEP43 was set to AMBER Added comment: Bardet‑Biedl syndrome (biallelic, LoF): PMID 41715205 reports a single individual with a homozygous splice‑site CEP43 variant presenting with classic BBS features (post‑axial polydactyly, cone‑rod dystrophy, congenital hip dysplasia, mild intellectual disability, obesity). No parental testing was performed, and functional evidence is limited to a mouse knockout model. Cone‑rod dystrophy (biallelic, LoF): PMID 41715205 describes one patient from a second family carrying compound heterozygous missense (p.R72H) and splice‑site CEP43 variants with progressive visual loss and retinal pigmentary changes. Inheritance was inferred without segregation data. Severe skeletal dysplasia (biallelic, LoF): PMID 41715205 reports a fetus from a third family homozygous for missense p.E12V, showing lethal short‑rib thoracic dysplasia. Parental carrier status is not shown. Sources: Literature |
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