Periventricular Grey Matter Heterotopia
Gene: DCHS1

DCHS1 (dachsous cadherin-related 1)
EnsemblGeneIds (GRCh38): ENSG00000166341
EnsemblGeneIds (GRCh37): ENSG00000166341
OMIM: 603057, Gene2Phenotype
DCHS1 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Van Maldergem syndrome is characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Brain MRI typically shows periventricular nodular heterotopia.

Four unrelated families reported. Note mono-allelic variants are associated with MVP.
Created: 5 Sep 2021, 2:45 a.m. | Last Modified: 5 Sep 2021, 2:45 a.m.

Panel Version: 0.19

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Van Maldergem syndrome 1, MIM# 601390

Publications

Created: 5 Sep 2021, 2:45 a.m.
Last Modified: 5 Sep 2021, 2:45 a.m.
Panel version: 0.19

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

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

Phenotypes

Van Maldergem syndrome 1, MIM# 601390

OMIM

603057

Clinvar variants

Variants in DCHS1

Penetrance

None

Publications

Panels with this gene