Malformations of cortical development
Gene: DCXComment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. Numerous variants reported (at least 8 in Lissencephaly, X-linked 300067 (with and without Subcortical laminal heteropia) and 6 in Subcortical laminal heteropia, X-linked 300067 alone)Created: 1 Nov 2016, 12:45 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes and mode of inheritance (X-linked) sourced from OMIM.Created: 8 Jan 2016, 10:20 a.m.
Phenotypes for gene: DCX were changed from Lissencephaly, X-linked 300067; Subcortical laminal heteropia, X-linked 300067; Classic Lissencephaly/Subcortical Band Heterotopia to Lissencephaly, X-linked, OMIM:300067; Subcortical laminal heterotopia, X-linked, OMIM:300067
This gene has been classified as Green List (High Evidence).
Promoted to Version 1 on 22nd November 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for DCX were set to Lissencephaly, X-linked 300067; Subcortical laminal heteropia, X-linked 300067; Classic Lissencephaly/Subcortical Band Heterotopia;
This gene has been classified as Green List (High Evidence).
DCX was added to Malformations of cortical developmentpanel. Source: UKGTN
DCX was added to Malformations of cortical developmentpanel. Source: Emory Genetics Laboratory
DCX was added to Malformations of cortical developmentpanel. Sources: Eligibility statement prior genetic testing,Other
DCX was created by ellenmcdonagh