Intellectual disability
Gene: KIF5B

KIF5B (kinesin family member 5B)
EnsemblGeneIds (GRCh38): ENSG00000170759
EnsemblGeneIds (GRCh37): ENSG00000170759
OMIM: 602809, Gene2Phenotype
KIF5B is in 5 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

Comment on list classification: Although ID was reported in four of seven cases, all these patients display complex syndromic disease with broad spectrum of phenotypes and the severity of ID was mild in one and not reported in two others. This gene has been added with green rating on the DDG2P panel and hence will be included in the paediatric disorders super panel.

Hence, this gene should be rated amber with current evidence. The 'watchlist' tag has been added to keep track of new evidence.
Created: 5 Nov 2024, 11:32 a.m. | Last Modified: 5 Nov 2024, 11:34 a.m.

Panel Version: 8.8

As reviewed by Tracy Lester, there are a total of seven patients reported with missense variants in KIF5B gene from PMIDs: 35342932 and 36018820. Four of these seven patients presented with intellectual disability (two each from the two studies). PMID:36018820 reported the severity of ID as severe for one patient and mild for another, while severity was not recoded in PMID:35342932.

This gene has been associated with relevant phenotype in Gene2Phenotype (with 'moderate' rating on the DD panel), but not yet in OMIM.
Created: 5 Nov 2024, 11:23 a.m. | Last Modified: 5 Nov 2024, 11:25 a.m.

Panel Version: 8.6

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
kyphomelic dysplasia, MONDO:0008881; intellectual disability, MONDO:0001071

Publications

Created: 5 Nov 2024, 11:23 a.m.
Last Modified: 5 Nov 2024, 11:34 a.m.
Panel version: 8.6

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

PMID: 35342932 - 3 de novo missense variants reported in 4 subjects with a syndromic skeletal disorder characterized by kyphomelic dysplasia, hypotonia and DD/ID
PMID: 36018820 - 3 more missense variants reported in individuals with a clinically wide phenotypic spectrum ranging from dilated cardiomyopathy with adult-onset ophthalmoplegia and progressive skeletal myopathy to a neurodevelopmental condition characterized by severe hypotonia with or without seizures. In vitro and in vivo analyses provide evidence that the identified disease-associated KIF5B variants disrupt lysosomal, autophagosome and mitochondrial organization, and impact cilium biogenesis. All variants, and one of the previously reported missense changes, were shown to affect multiple developmental processes in zebrafish.
Sources: NHS GMS
Created: 18 Oct 2024, 1:36 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
kyphomelic dysplasia; hypotonia; developmental delay; intellectual disability

Publications

Created: 18 Oct 2024, 1:36 p.m.

Panel version: 7.61

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber

Phenotypes

kyphomelic dysplasia, MONDO:0008881
intellectual disability, MONDO:0001071

Tags

watchlist gene-checked

OMIM

602809

Clinvar variants

Variants in KIF5B

Penetrance

unknown

Publications

Panels with this gene