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Retinal disorders

Gene: KIF3B

Amber List (moderate evidence)

KIF3B (kinesin family member 3B)
EnsemblGeneIds (GRCh38): ENSG00000101350
EnsemblGeneIds (GRCh37): ENSG00000101350
OMIM: 603754, Gene2Phenotype
KIF3B is in 2 panels

1 review

Ivone Leong (Genomics England Curator)

I don't know

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, Literature
Created: 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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
  • Expert list
Phenotypes
  • hepatic fibrosis
  • Retinitis pigmentosa 89, OMIM:618955, MONDO:0030071
  • postaxial polydactyly
Tags
watchlist
OMIM
603754
Clinvar variants
Variants in KIF3B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: kif3b has been classified as Amber List (Moderate Evidence).

9 Dec 2020, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

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