Retinal disorders
Gene: KIF3B

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

32386558

Created: 9 Dec 2020, 2:49 p.m.

Panel version: 2.24

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

32386558

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