| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Renal Ciliopathies and Nephronophthisis v1.1 | IFT172 | Zornitza Stark Phenotypes for gene: IFT172 were changed from Bardet-Biedl syndrome; Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630 to Bardet-Biedl syndrome 20, MIM# 619471; Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Ciliopathies and Nephronophthisis v1.0 | 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 also associated with skeletal ciliopathy, with nephronophthisis reported.; to: Three families reported with a BBS phenotype. Gene is also associated with skeletal ciliopathy, with nephronophthisis reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Ciliopathies and Nephronophthisis v1.0 | IFT172 | Zornitza Stark edited their review of gene: IFT172: Changed phenotypes: Bardet-Biedl syndrome 20, MIM# 619471, Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Ciliopathies and Nephronophthisis v0.230 | IFT172 | Zornitza Stark Marked gene: IFT172 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Ciliopathies and Nephronophthisis v0.230 | IFT172 | Zornitza Stark Gene: ift172 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Ciliopathies and Nephronophthisis v0.230 | IFT172 | Zornitza Stark Phenotypes for gene: IFT172 were changed from to Bardet-Biedl syndrome; Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Ciliopathies and Nephronophthisis v0.229 | IFT172 | Zornitza Stark Publications for gene: IFT172 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Ciliopathies and Nephronophthisis v0.228 | IFT172 | Zornitza Stark Mode of inheritance for gene: IFT172 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Ciliopathies and Nephronophthisis v0.227 | 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. Gene is also associated with skeletal ciliopathy, with nephronophthisis reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Ciliopathies and Nephronophthisis v0.227 | IFT172 | Zornitza Stark edited their review of gene: IFT172: Changed publications: 30761183, 26763875, 25168386, 24140113; Changed phenotypes: Bardet-Biedl syndrome, Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Ciliopathies and Nephronophthisis v0.0 | IFT172 |
Zornitza Stark gene: IFT172 was added gene: IFT172 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: IFT172 was set to Unknown |
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