Malformations of cortical development

Gene: DCHS1

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.

Created: 1 Feb 2023, 11:35 a.m. | Last Modified: 1 Feb 2023, 11:35 a.m.

Panel Version: 3.11

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). DCHS1 is associated with a relevant phenotype in OMIM (MIM# 601390) and G2P ('confirmed' disease confidence rating). Sufficient number of unrelated cases (4 patients from 3 families) with relevant phenotype and confirmed variants in this gene to rate as Green.

Brain MRI typically shows periventricular nodular heterotopia, often with a dysmorphic corpus callosum or simplified gyral pattern, consistent with a neuronal migration defect.

Created: 8 Sep 2021, 1:58 p.m. | Last Modified: 8 Sep 2021, 2:19 p.m.

Panel Version: 2.76

Green List (high evidence)

PMID: 27262615;
- cohort of 26x periventricular band heterotopias and 2x had additional phenotype of pachygyria
- 2nd cohort of 10x band heterotopias

PMID: 22473091;
- 1x patient with localised areas of cortical thickening and gyral simplification
Sources: Literature
Sources: Expert list

Created: 27 Aug 2020, 10:30 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Van Maldergem syndrome 1 (MIM#601390)

Publications

• 27262615
• 22473091

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