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| Ciliopathies v1.7 | IFT172 | Zornitza Stark Phenotypes for gene: IFT172 were changed from Bardet-Biedl syndrome; Retinitis pigmentosa 71, MIM# 616394; Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630 to Bardet-Biedl syndrome 20, MIM# 619471; Retinitis pigmentosa 71, MIM# 616394; Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v1.6 | IFT172 |
Zornitza Stark changed review comment from: Three families reported with a BBS phenotype, although this association is not listed in OMIM or MONDO. More than 10 families reported with skeletal ciliopathy and 3 with RP. Supportive zebrafish models.; to: Three families reported with a BBS phenotype. More than 10 families reported with skeletal ciliopathy and 3 with RP. Supportive zebrafish models. |
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| Ciliopathies v1.6 | IFT172 | Zornitza Stark edited their review of gene: IFT172: Changed phenotypes: Bardet-Biedl syndrome 20, MIM# 619471, Retinitis pigmentosa 71, MIM# 616394, Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.359 | IFT172 | Zornitza Stark Marked gene: IFT172 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.359 | IFT172 | Zornitza Stark Gene: ift172 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.359 | IFT172 | Zornitza Stark Phenotypes for gene: IFT172 were changed from to Bardet-Biedl syndrome; Retinitis pigmentosa 71, MIM# 616394; Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.358 | IFT172 | Zornitza Stark Publications for gene: IFT172 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.357 | IFT172 | Zornitza Stark Mode of inheritance for gene: IFT172 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.356 | IFT172 |
Zornitza Stark changed review comment from: Three families reported with a BBS phenotype, although this association is not listed in OMIM or MONDO. Gene is associated with other ciliopathies as well.; to: Three families reported with a BBS phenotype, although this association is not listed in OMIM or MONDO. More than 10 families reported with skeletal ciliopathy and 3 with RP. Supportive zebrafish models. |
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| Ciliopathies v0.356 | IFT172 | Zornitza Stark edited their review of gene: IFT172: Changed publications: 30761183, 26763875, 25168386, 24140113, 25168386; Changed phenotypes: Bardet-Biedl syndrome, Retinitis pigmentosa 71, MIM# 616394, Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.0 | IFT172 |
Zornitza Stark gene: IFT172 was added gene: IFT172 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: IFT172 was set to Unknown |
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