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Ophthalmological ciliopathies v1.10 | KIF3B | Ivone Leong Classified gene: KIF3B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ophthalmological ciliopathies v1.10 | KIF3B | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is currently not enough evidence to support a gene-disease association so this gene has been given an Amber rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ophthalmological ciliopathies v1.10 | KIF3B | Ivone Leong Gene: kif3b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ophthalmological ciliopathies v1.9 | KIF3B | Ivone Leong Tag watchlist tag was added to gene: KIF3B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ophthalmological ciliopathies v1.9 | KIF3B | Ivone Leong Phenotypes for gene: KIF3B were changed from hepatic fibrosis; retinitis pigmentosa; postaxial polydactyly to hepatic fibrosis; Retinitis pigmentosa 89, OMIM:618955, MONDO:0030071; postaxial polydactyly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ophthalmological ciliopathies v1.4 | KIF3B |
Zornitza Stark gene: KIF3B was added gene: KIF3B was added to Ophthalmological ciliopathies. Sources: Literature Mode of inheritance for gene: KIF3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIF3B were set to 32386558 Phenotypes for gene: KIF3B were set to hepatic fibrosis; retinitis pigmentosa; postaxial polydactyly Review for gene: KIF3B was set to AMBER Added comment: Two unrelated families with a ciliopathy phenotype including RP and some functional data. Sources: Literature |