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| Mendeliome v0.9490 | IFT74 | Zornitza Stark Phenotypes for gene: IFT74 were changed from Bardet-Biedl syndrome 20, MIM# 617119; Joubert syndrome; Spermatogenic failure 58, MIM# 619585 to Bardet-Biedl syndrome 20, MIM# 617119; Joubert syndrome 40, MIM# 619582; Spermatogenic failure 58, MIM# 619585 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9489 | IFT74 | Zornitza Stark edited their review of gene: IFT74: Changed phenotypes: Bardet-Biedl syndrome 20, MIM# 617119, Joubert syndrome 40, MIM# 619582, Spermatogenic failure 58, MIM# 619585 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9439 | IFT74 | Zornitza Stark Phenotypes for gene: IFT74 were changed from Bardet-Biedl syndrome 20, MIM# 617119; Joubert syndrome to Bardet-Biedl syndrome 20, MIM# 617119; Joubert syndrome; Spermatogenic failure 58, MIM# 619585 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9438 | IFT74 | Zornitza Stark Publications for gene: IFT74 were set to 27486776; 32144365; 33531668 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9437 | IFT74 | Zornitza Stark edited their review of gene: IFT74: Added comment: Limited evidence for association with spermatogenic failure: two unrelated individuals with same homozygous missense variant.; Changed publications: 27486776, 32144365, 33531668, 33689014; Changed phenotypes: Bardet-Biedl syndrome 20, MIM# 617119, Joubert syndrome, Spermatogenic failure 58, MIM# 619585 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8011 | IFT74 | Zornitza Stark Phenotypes for gene: IFT74 were changed from Bardet-Biedl syndrome 20, MIM# 617119 to Bardet-Biedl syndrome 20, MIM# 617119; Joubert syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8010 | IFT74 | Zornitza Stark Publications for gene: IFT74 were set to 27486776; 32144365 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8009 | IFT74 | Zornitza Stark edited their review of gene: IFT74: Added comment: 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.; Changed publications: 27486776, 32144365, 33531668; Changed phenotypes: Bardet-Biedl syndrome 20, MIM# 617119, Joubert syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1705 | IFT74 | Zornitza Stark Publications for gene: IFT74 were set to 27486776 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1704 | IFT74 | Zornitza Stark Classified gene: IFT74 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1704 | IFT74 | Zornitza Stark Gene: ift74 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1703 | IFT74 | Zornitza Stark edited their review of gene: IFT74: Added comment: Second individual with bi-allelic variants and BBS phenotype reported.; Changed rating: GREEN; Changed publications: 27486776, 32144365 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.596 | IFT74 | Zornitza Stark Marked gene: IFT74 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.596 | IFT74 | Zornitza Stark Gene: ift74 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.596 | IFT74 | Zornitza Stark Classified gene: IFT74 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.596 | IFT74 | Zornitza Stark Gene: ift74 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.595 | IFT74 |
Zornitza Stark gene: IFT74 was added gene: IFT74 was added to Mendeliome_VCGS. Sources: Expert list Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT74 were set to 27486776 Phenotypes for gene: IFT74 were set to Bardet-Biedl syndrome 20, MIM# 617119 Review for gene: IFT74 was set to AMBER Added comment: Single family and functional data. Sources: Expert list |
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