Genomics England

ARX

aristaless related homeobox

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 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 Developmental and epileptic encephalopathy 1, OMIM:308350, X-linked spasticity-intellectual disability-epilepsy syndromeMONDO:0017856, Partington syndrome, OMIM:309510, Partington syndrome, MONDO:0010654
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes MENTAL RETARDATION X-LINKED ARX-RELATED 300419, AGENESIS OF THE CORPUS CALLOSUM WITH ABNORMAL GENITALIA 300004, LISSENCEPHALY X-LINKED TYPE 2 300215, EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 1 308350, PARTINGTON SYNDROME 309510
Green in Differences in sex development R-numbers: R146 Signed-off version 4.5	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Corpus Callosum, Agenesis Of, With Abnormal Genitalia, Proud syndrome 300004, ARX-related Disorders, Lissencephaly, X-linked 2 300215
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, biallelic mutations in females	Phenotypes Epileptic encephalopathy, early infantile, 1 308350, Hydranencephaly with abnormal genitalia 300215, Lissencephaly, X-linked 2 300215, Mental retardation, X-linked 29 and others 300419, Partington syndrome 309510, Proud syndrome 300004
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes PARTINGTON SYNDROME, MENTAL RETARDATION X-LINKED ARX-RELATED, LISSENCEPHALY X-LINKED TYPE 2, AGENESIS OF THE CORPUS CALLOSUM WITH ABNORMAL GENITALIA, EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 1
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, biallelic mutations in females	Phenotypes Epileptic encephalopathy, early infantile, 1, 308350Lissencephaly, X-linked 2, 300215Mental retardation, X-linked 29 and others, 300419Proud syndrome, 300004Partington syndrome, 309510Hydranencephaly with abnormal genitalia, 300215, MENTAL RETARDATION X-LINKED ARX-RELATED (MRXARX)
Green in Intestinal failure or congenital diarrhoea R-numbers: R331 Signed-off version 3.0	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 2, OMIM:300215
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, 2 300215, Epileptic encephalopathy, early infantile, 1 308350, Hydranencephaly with abnormal genitalia 300215, Mental retardation, X-linked 29 and others 300419, Partington syndrome 309510, Proud syndrome 300004