Lissencephaly and Band Heterotopia
Gene: VLDLR

VLDLR (very low density lipoprotein receptor)
EnsemblGeneIds (GRCh38): ENSG00000147852
EnsemblGeneIds (GRCh37): ENSG00000147852
OMIM: 192977, Gene2Phenotype
VLDLR is in 15 panels

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

Variants affecting this gene cause cerebral hyploplasia and gyral simplification (referred to as such in the literature - OMIM says pachygyria) in many unrelated individuals (at least 8 families in the literature attached here, GeneReviews cites >50 individuals of unknown relatedness https://www.ncbi.nlm.nih.gov/books/NBK1874/)

This panel appears to be the most appropriate for this gene.
Created: 24 Aug 2020, 1:35 a.m. | Last Modified: 24 Aug 2020, 1:35 a.m.

Panel Version: 0.46

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 (MIM#224050)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 24 Aug 2020, 1:35 a.m.
Last Modified: 24 Aug 2020, 1:35 a.m.
Panel version: 0.46

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Brain Malformations Flagship

Phenotypes

Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 (MIM#224050)

OMIM

192977

Clinvar variants

Variants in VLDLR

Penetrance

None

Publications

Panels with this gene