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| Neurological ciliopathies v1.15 | IFT74 |
Zornitza Stark gene: IFT74 was added gene: IFT74 was added to Neurological ciliopathies. Sources: Literature Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT74 were set to 33531668 Phenotypes for gene: IFT74 were set to Joubert syndrome Review for gene: IFT74 was set to GREEN Added comment: Gene is associated with BBS. Note new publication: PMID 33531668: Identified IFT74 as a JBTS-associated gene in 3 unrelated families through WES. All the affected individuals carried truncated variants and shared one missense variant (p.Q179E) found only in East Asians. The expression of the human p.Q179E-IFT74 variant displayed compromised rescue effects in zebrafish ift74 morphants. Attenuated ciliogenesis; altered distribution of IFT proteins and ciliary membrane proteins, including ARL13B, INPP5E, and GPR161; and disrupted hedgehog signaling were observed in patient fibroblasts with IFT74 variants. Sources: Literature |
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| Neurological ciliopathies v0.3 | ARL13B |
Ellen McDonagh gene: ARL13B was added gene: ARL13B was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: ARL13B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARL13B were set to 18674751; 25138100 Phenotypes for gene: ARL13B were set to Joubert syndrome 8 |
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