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Mosaic brain disorders - deep sequencing

Gene: DCX

Green List (high evidence)
DCX (doublecortin)
EnsemblGeneIds (GRCh38): ENSG00000077279
EnsemblGeneIds (GRCh37): ENSG00000077279
OMIM: 300121, Gene2Phenotype
DCX is in 8 panels

3 reviews

Sarah Leigh (Genomics England Curator)

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

Created: 11 Oct 2023, 8:53 a.m.
Last Modified: 11 Oct 2023, 8:53 a.m.
Panel version: 0.133

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

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-linkedLissencephaly (males), subcortical band heterotopia (females), OMIM:300067

Publications

Created: 31 May 2023, 9:33 a.m.
Last Modified: 31 May 2023, 9:33 a.m.
Panel version: 0.100

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 5:26 p.m. | Last Modified: 1 Feb 2023, 5:27 p.m.
Panel Version: 0.93
Review submitted on behalf of Dr Lara Menzies, Dr Wendy Jones, Dr Amy McTague. Mode of inheritance: XL dominant, mosaic. Publications: Gleeson et al 2000 AJHG, Jamuar et al 2013 NEJM. Mechanism: no information provided. Penetrance: no information provided.
Created: 21 Dec 2022, 12:16 p.m. | Last Modified: 21 Dec 2022, 12:16 p.m.
Panel Version: 0.2

Phenotypes
Lissencephaly (males), subcortical band heterotopia (females)

Created: 21 Dec 2022, 12:16 p.m.
Last Modified: 1 Feb 2023, 5:27 p.m.
Panel version: 0.93

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
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Lissencephaly, X-linked, OMIM:300067 (males)
  • Subcortical laminal heterotopia, X-linked, OMIM:300067 (females)
OMIM
300121
Clinvar variants
Variants in DCX
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Oct 2023, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

Source NHS GMS was added to DCX.

31 May 2023, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: DCX were changed from Lissencephaly, X-linked, OMIM:300067; Subcortical laminal heterotopia, X-linked, OMIM:300067 to Lissencephaly, X-linked, OMIM:300067 (males); Subcortical laminal heterotopia, X-linked, OMIM:300067 (females)

31 May 2023, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: DCX were set to

21 Dec 2022, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

21 Dec 2022, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: DCX were changed from to Lissencephaly, X-linked, OMIM:300067; Subcortical laminal heterotopia, X-linked, OMIM:300067

21 Dec 2022, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: DCX was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

21 Dec 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: DCX was added gene: DCX was added to Mosaic brain disorders. Sources: Expert list Mode of inheritance for gene: DCX was set to