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Fetal anomalies

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two families reported with supportive functional data. Predominant phenotype is RP, however polydactyly reported, which would be detectable by US.
Sources: Literature
Created: 21 May 2025, 11:49 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Retinitis pigmentosa 89, MIM#618955; polydactyly

Publications

Details

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

History Filter Activity

21 May 2025, 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).

21 May 2025, 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).

21 May 2025, 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 Fetal anomalies. 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; 38665936 Phenotypes for gene: KIF3B were set to Retinitis pigmentosa 89, MIM#618955; polydactyly Review for gene: KIF3B was set to AMBER