Malformations of cortical development
Gene: DCHS1
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
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 listCreated: 27 Aug 2020, 10:30 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Van Maldergem syndrome 1 (MIM#601390)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q3_21_rating was removed from gene: DCHS1.
Source Expert Review Green was added to DCHS1. Source NHS GMS was added to DCHS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: DCHS1 were set to 27262615; 22473091
Tag Q3_21_rating tag was added to gene: DCHS1.
Gene: dchs1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: DCHS1 were changed from Van Maldergem syndrome 1, OMIM:601390 to Van Maldergem syndrome 1, OMIM:601390; Periventricular nodular heterotopia
Phenotypes for gene: DCHS1 were changed from Van Maldergem syndrome 1 (MIM#601390) to Van Maldergem syndrome 1, OMIM:601390
gene: DCHS1 was added gene: DCHS1 was added to Malformations of cortical development. Sources: Expert list Mode of inheritance for gene: DCHS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DCHS1 were set to 27262615; 22473091 Phenotypes for gene: DCHS1 were set to Van Maldergem syndrome 1 (MIM#601390) Review for gene: DCHS1 was set to GREEN gene: DCHS1 was marked as current diagnostic