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| Skeletal ciliopathies v0.12 | IFT81 | Eleanor Williams Classified gene: IFT81 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v0.12 | IFT81 | Eleanor Williams Added comment: Comment on list classification: Upgrading from Amber to Green as there is now an additional case in which the tandem duplication of 2 exons is predicted to result in a truncated protein (PMID: 30080953 - Pettersson et al 2018) in a patient with short-rib thoracic dysplasia. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v0.12 | IFT81 | Eleanor Williams Gene: ift81 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v0.11 | IFT81 | Eleanor Williams changed review comment from: Additional publication - PMID: 30080953 Pettersson et al 2018 - a homozygous tandem duplication of exon 9 and 10 in IFT81 in a boy with Jeune syndrome, or short-rib thoracic dysplasia (SRTD). Western blot analysis did not detect any wild-type IFT81 protein in fibroblasts from the patient with the IFT81 duplication, but only a shorter isoform of IFT81 that was also present in the normal control samples.; to: Additional publication - PMID: 30080953 Pettersson et al 2018 - a homozygous tandem duplication of exon 9 and 10 in IFT81 in a boy with Jeune syndrome, or short-rib thoracic dysplasia (SRTD). The duplication was predicted to disrupt the ORF and cause a truncation of the peptide sequence. Western blot analysis did not detect any wild-type IFT81 protein in fibroblasts from the patient with the IFT81 duplication, but only a shorter isoform of IFT81 that was also present in the normal control samples. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v0.6 | IFT81 | Eleanor Williams Publications for gene: IFT81 were set to 27666822; 26275418 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v0.5 | IFT81 | Eleanor Williams commented on gene: IFT81 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v0.1 | IFT81 |
Eleanor Williams gene: IFT81 was added gene: IFT81 was added to Skeletal ciliopathies. Sources: Expert list,Expert Review Amber Mode of inheritance for gene: IFT81 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT81 were set to 27666822; 26275418 Phenotypes for gene: IFT81 were set to Short-rib thoracic dysplasia 19 with or without polydactyly, 617895 |
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