Intellectual disability syndromic and non-syndromic
Gene: KIF11

KIF11 (kinesin family member 11)
EnsemblGeneIds (GRCh38): ENSG00000138160
EnsemblGeneIds (GRCh37): ENSG00000138160
OMIM: 148760, Gene2Phenotype
KIF11 is in 9 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 30 unrelated individuals reported.

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation is an autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype. Congenital lymphoedema, when present, is typically confined to the dorsa of the feet.
Created: 28 Mar 2021, 7:04 a.m. | Last Modified: 28 Mar 2021, 7:04 a.m.

Panel Version: 0.3559

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950; MONDO:0007918

Publications

Created: 28 Mar 2021, 7:04 a.m.
Last Modified: 28 Mar 2021, 7:04 a.m.
Panel version: 0.3559

Ee Ming Wong (Victorian Clinical Genetics Services)

Green List (high evidence)

KIF11 mutations associated with incomplete penetrance (PMID: 27212378; 24281367)
Created: 6 Feb 2020, 11:03 p.m. | Last Modified: 6 Feb 2020, 11:03 p.m.

Panel Version: 0.2006

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
1. Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (OMIM); 2. Familial exudative vitreoretinopathy (FEVR) (PMID: 27212378)

Publications

PMID: 27212378
24281367

Created: 6 Feb 2020, 11:03 p.m.
Last Modified: 6 Feb 2020, 11:03 p.m.
Panel version: 0.2006

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Genetic Health Queensland

Phenotypes

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950
MONDO:0007918

OMIM

148760

Clinvar variants

Variants in KIF11

Penetrance

None

Publications

Panels with this gene