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  2. Arthrogryposis
  3. DCX
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Arthrogryposis

Gene: DCX

Red List (low 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)

Red List (low evidence)

Contractures are secondary to tone abnormalities, and are not a prominent/key feature.
Created: 11 Jul 2020, 4:16 a.m. | Last Modified: 11 Jul 2020, 4:16 a.m.
Panel Version: 0.96

Phenotypes
Lissencephaly, X-linked, MIM# 300067

Publications

Created: 11 Jul 2020, 4:16 a.m.
Last Modified: 11 Jul 2020, 4:16 a.m.
Panel version: 0.96

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Lissencephaly, X-linked, MIM# 300067
OMIM
300121
Clinvar variants
Variants in DCX
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Jul 2020, 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).

11 Jul 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DCX were changed from to Lissencephaly, X-linked, MIM# 300067

11 Jul 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DCX were set to

11 Jul 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DCX was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

11 Jul 2020, 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).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DCX was added gene: DCX was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DCX was set to Unknown