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| Neurological ciliopathies v3.12 | IFT74 | Sarah Leigh Tag Q2_23_promote_green was removed from gene: IFT74. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v3.12 | IFT74 | Sarah Leigh edited their review of gene: IFT74: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v3.11 | IFT74 |
Sarah Leigh Source Expert Review Green was added to IFT74. Source NHS GMS was added to IFT74. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Neurological ciliopathies v3.4 | IFT74 | Sarah Leigh edited their review of gene: IFT74: Added comment: Associated with Joubert syndrome 40 in OMIM (OMIM:619582) and as a definitive gene for IFT74-associated ciliopathy in Gen2Phen. Five IFT74 variants have been associated with OMIM:619582, in four unrelated Chinese families, supportive functional studies have been perfomed on patient fibroblasts and zebra fish IFT74 morphants (PMID: 33531668).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v3.4 | IFT74 | Sarah Leigh Tag Q2_23_promote_green tag was added to gene: IFT74. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v3.4 | IFT74 | Sarah Leigh Classified gene: IFT74 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v3.4 | IFT74 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v3.4 | IFT74 | Sarah Leigh Gene: ift74 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v3.3 | IFT74 | Sarah Leigh Phenotypes for gene: IFT74 were changed from Joubert syndrome to Joubert syndrome 40, OMIM:619582; Joubert syndrome 40, MONDO:0030462 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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