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  2. Ciliopathies
  3. KIF3B
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Ciliopathies

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two unrelated families with a ciliopathy phenotype and some functional data.
Sources: Literature
Created: 1 Jun 2020, 5:13 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
hepatic fibrosis; retinitis pigmentosa; postaxial polydactyly; Retinitis pigmentosa 89, MIM#618955

Publications

Created: 1 Jun 2020, 5:13 a.m.

Panel version: 0.192

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • hepatic fibrosis
  • retinitis pigmentosa
  • postaxial polydactyly
  • Retinitis pigmentosa 89, MIM#618955
OMIM
603754
Clinvar variants
Variants in KIF3B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jul 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KIF3B were changed from hepatic fibrosis; retinitis pigmentosa; postaxial polydactyly to hepatic fibrosis; retinitis pigmentosa; postaxial polydactyly; Retinitis pigmentosa 89, MIM#618955

1 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Jun 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KIF3B was added gene: KIF3B was added to 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