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  3. DCX
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Fetal anomalies

Gene: DCX

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

DCX mutations cause classic lissencephaly with mental retardation 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.
Created: 11 Jul 2020, 4:16 a.m. | Last Modified: 29 Nov 2021, 7:12 a.m.
Panel Version: 0.818

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 300067

Publications

Created: 11 Jul 2020, 4:16 a.m.
Last Modified: 29 Nov 2021, 7:12 a.m.
Panel version: 0.818

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Lissencephaly, X-linked, MIM# 300067
  • Subcortical laminal heterotopia, X-linked 300067
OMIM
300121
Clinvar variants
Variants in DCX
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Nov 2021, 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).

29 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DCX were changed from LISSENCEPHALY X-LINKED TYPE 1; SUBCORTICAL BAND HETEROTOPIA X-LINKED to Lissencephaly, X-linked, MIM# 300067; Subcortical laminal heterotopia, X-linked 300067

29 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DCX were set to

24 Oct 2021, 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 Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: DCX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: DCX were set to LISSENCEPHALY X-LINKED TYPE 1; SUBCORTICAL BAND HETEROTOPIA X-LINKED