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  3. KIF3B
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Ophthalmological ciliopathies

Gene: KIF3B

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

2 reviews

Ivone Leong (Genomics England Curator)

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.
Created: 9 Dec 2020, 2:47 p.m. | Last Modified: 9 Dec 2020, 2:47 p.m.
Panel Version: 1.10
Created: 9 Dec 2020, 2:47 p.m.
Last Modified: 9 Dec 2020, 2:47 p.m.
Panel version: 1.10

Zornitza Stark (Australian Genomics)

I don't know

Two unrelated families with a ciliopathy phenotype including RP and some functional data.
Sources: Literature
Created: 3 Jun 2020, 10:37 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
hepatic fibrosis; retinitis pigmentosa; postaxial polydactyly

Publications

Created: 3 Jun 2020, 10:37 a.m.

Panel version: 1.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
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: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist tag was added to gene: KIF3B.

9 Dec 2020, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

3 Jun 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

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