Lissencephaly and Band Heterotopia

Gene: DCHS1

Green List (high evidence)

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

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

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: Literature
Created: 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

26 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: dchs1 has been classified as Green List (High Evidence).

26 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: dchs1 has been classified as Green List (High Evidence).

26 Aug 2020, Gel status: 0

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