Ophthalmological ciliopathies
Gene: KIF3BComment 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.Created: 9 Dec 2020, 2:47 p.m. | Last Modified: 9 Dec 2020, 2:47 p.m.
Panel Version: 1.10
Two unrelated families with a ciliopathy phenotype including RP and some functional data.
Sources: LiteratureCreated: 3 Jun 2020, 10:37 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
hepatic fibrosis; retinitis pigmentosa; postaxial polydactyly
Publications
Gene: kif3b has been classified as Amber List (Moderate Evidence).
Tag watchlist tag was added to gene: KIF3B.
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
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