Retinal disorders
Gene: KIF3B
New gene added by Zornitza Stark (Australian Genomics) to the Ophthalmological ciliopathies (Version 1.10). 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.
"Two unrelated families with a ciliopathy phenotype including RP and some functional data. Sources: Literature
Zornitza Stark (Australian Genomics), 3 Jun 2020"
Sources: Expert list, LiteratureCreated: 9 Dec 2020, 2:49 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
hepatic fibrosis; Retinitis pigmentosa 89, OMIM:618955, MONDO:0030071; postaxial polydactyly
Publications
Gene: kif3b has been classified as Amber List (Moderate Evidence).
gene: KIF3B was added gene: KIF3B was added to Retinal disorders. Sources: Expert list,Literature watchlist tags were added to gene: KIF3B. Mode of inheritance for gene: KIF3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KIF3B were set to 32386558 Phenotypes for gene: KIF3B were set to hepatic fibrosis; Retinitis pigmentosa 89, OMIM:618955, MONDO:0030071; postaxial polydactyly Review for gene: KIF3B was set to AMBER