Genomics England

DCX

doublecortin

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes SUBCORTICAL BAND HETEROTOPIA X-LINKED 300067, LISSENCEPHALY X-LINKED TYPE 1 300067
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 5.10	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, OMIM:300067, Subcortical laminal heterotopia, X-linked, OMIM:300067
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	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, OMIM:300067, Subcortical laminal heterotopia, X-linked, OMIM:300067
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	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, OMIM:300067, Subcortical laminal heterotopia, X-linked, OMIM:300067
Green in Malformations of cortical development Component of the following Super Panels: - Cerebral malformation Signed-off version 5.4	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, OMIM:300067, Subcortical laminal heterotopia, X-linked, OMIM:300067
Green in Mosaic brain disorders - deep sequencing R-numbers: R429 Signed-off version 1.1	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, OMIM:300067 (males), Subcortical laminal heterotopia, X-linked, OMIM:300067 (females)