Lissencephaly and Band Heterotopia
Gene: DCHS1EnsemblGeneIds (GRCh38): ENSG00000166341
EnsemblGeneIds (GRCh37): ENSG00000166341
OMIM: 603057, Gene2Phenotype
DCHS1 is in 8 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
PMID: 27262615;
- cohort of 26x periventricular band heterotopias however 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: LiteratureCreated: 26 Aug 2020, 2:31 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Van Maldergem syndrome 1 (MIM#601390)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Van Maldergem syndrome 1 (MIM#601390)
- OMIM
- 603057
- Clinvar variants
- Variants in DCHS1
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: dchs1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: dchs1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Ain Roesley (Victorian Clinical Genetics Services)gene: DCHS1 was added gene: DCHS1 was added to Lissencephaly and Band Heterotopia. Sources: Literature 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) Penetrance for gene: DCHS1 were set to unknown Review for gene: DCHS1 was set to GREEN