Hydrocephalus_Ventriculomegaly
Gene: KIF26AEnsemblGeneIds (GRCh38): ENSG00000066735
EnsemblGeneIds (GRCh37): ENSG00000066735
OMIM: 613231, Gene2Phenotype
KIF26A is in 6 panels
1 review
Belinda Chong (Victorian Clinical Genetics Services)
Five individuals from two families each with a different homozygous truncating variant in KIF26A segregating with profound ENS dysfunction that manifested clinically like Hirschsprung’s disease despite normal ganglionosis. Moreover, they all have neurological involvement with brain malformations ranging from ventriculomegaly to severe congenital hydrocephalus in two siblings who died early in life. Clinically, they displayed developmental delay and, in the longest surviving individual, spastic paraplegia.
Sources: LiteratureCreated: 1 Jun 2023, 1:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156
- OMIM
- 613231
- Clinvar variants
- Variants in KIF26A
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kif26a has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kif26a has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Belinda Chong (Victorian Clinical Genetics Services)gene: KIF26A was added gene: KIF26A was added to Hydrocephalus_Ventriculomegaly. Sources: Literature Mode of inheritance for gene: KIF26A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF26A were set to 36564622 Phenotypes for gene: KIF26A were set to Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156 Review for gene: KIF26A was set to GREEN gene: KIF26A was marked as current diagnostic