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Gene: DCX

Green List (high evidence)
DCX (doublecortin)
EnsemblGeneIds (GRCh38): ENSG00000077279
EnsemblGeneIds (GRCh37): ENSG00000077279
OMIM: 300121, Gene2Phenotype
DCX is in 13 panels

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene -disease association. DCX mutations cause classic lissencephaly with intellectual disability in hemizygous males and a milder phenotype known as subcortical band heterotopia in females, sometimes in the same family. The subcortical lamina heterotopia found in heterozygous females is also referred to as 'double cortex' (DC) syndrome. Multiple affected families reported. Condition is serve in males and onset is congenital. Animal model present.
Created: 6 Aug 2024, 10:51 p.m. | Last Modified: 6 Aug 2024, 10:51 p.m.
Panel Version: 1.82

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Lissencephaly, X-linked MIM#300067; Subcortical laminal heterotopia, X-linked MIM#300067

Publications

Created: 6 Aug 2024, 10:51 p.m.
Last Modified: 6 Aug 2024, 10:51 p.m.
Panel version: 1.82

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Lissencephaly, X-linked MIM#300067
  • Subcortical laminal heterotopia, X-linked MIM#300067
OMIM
300121
Clinvar variants
Variants in DCX
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

8 Aug 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DCX were changed from Lissencephaly, X-linked, 300067 (3) to Lissencephaly, X-linked MIM#300067; Subcortical laminal heterotopia, X-linked MIM#300067

8 Aug 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DCX were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Lissencephaly, X-linked, 300067 (3) for gene: DCX

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DCX was added gene: DCX was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DCX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: DCX were set to Lissencephaly, X-linked, 300067 (3)