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  3. DCX
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Cerebral vascular malformations

Gene: DCX

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

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

Gene is associated with various brain malformations however no evidence of any individuals having any evidence of CVM.
Created: 25 Nov 2024, 6:07 a.m. | Last Modified: 25 Nov 2024, 6:07 a.m.
Panel Version: 0.39

Phenotypes
lissencephaly spectrum disorders MONDO:0018838

Created: 25 Nov 2024, 6:07 a.m.
Last Modified: 25 Nov 2024, 6:07 a.m.
Panel version: 0.39

History Filter Activity

26 Nov 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dcx has been classified as Red List (Low Evidence).

26 Nov 2024, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DCX were changed from Cerebral Malformation Disorders to lissencephaly spectrum disorders MONDO:0018838

18 May 2020, Gel status: 1

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 Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: DCX was set to Phenotypes for gene: DCX were set to Cerebral Malformation Disorders