ARX

aristaless related homeobox
OMIM: 300382, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Red ARX in Cerebral vascular malformations Level 2: Neurology Version 4.10 Latest signed off version: v4.0 (30 Apr 2025)	review	Not set	Sources Yorkshire and North East GLH NHS GMS Expert Review Red UKGTN Phenotypes Cerebral Malformation Disorders
Amber ARX in Hydrocephalus Level 2: Neurology Version 5.8 Latest signed off version: v5.0 (7 Aug 2024)	review	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 Amber Literature Phenotypes Hydranencephaly with abnormal genitalia, OMIM:300215 Tags watchlist
Green ARX in Early onset dystonia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.152	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Emory Genetics Laboratory Phenotypes Developmental and epileptic encephalopathy 1, OMIM:308350 X-linked spasticity-intellectual disability-epilepsy syndromeMONDO:0017856 Partington syndrome, OMIM:309510 Partington syndrome, MONDO:0010654
Red ARX in White matter disorders and cerebral calcification - narrow panel Level 2: Neurology Version 7.11 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Phenotypes 300215 Cerebral Malformation Disorders Lissencephaly, X-linked 2
Green ARX in Intestinal failure or congenital diarrhoea Level 2: Gastrohepatology Version 3.7 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes Lissencephaly, X-linked 2, OMIM:300215
Green ARX in Malformations of cortical development Level 2: Neurology Version 7.30 Latest signed off version: v7.0 (30 Oct 2024) Component of the following Super Panels: Cerebral malformation	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN 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 Tags nucleotide-repeat-expansion
Red ARX in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.186	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Phenotypes Cerebral Malformation Disorders Lissencephaly, X-linked 2 300215
Green ARX in Differences in sex development Level 2: Endocrinology Version 4.14 Latest signed off version: v4.5 (1 May 2024)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes Corpus Callosum, Agenesis Of, With Abnormal Genitalia, Proud syndrome 300004 ARX-related Disorders Lissencephaly, X-linked 2 300215
Red ARX in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	Unknown	Sources Expert Review Red Yorkshire and North East GLH NHS GMS South West GLH Phenotypes Dystonia
Green ARX in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources PAGE DD-Gene2Phenotype Expert Review Green 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 ARX in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green 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 ARX in Early onset or syndromic epilepsy Level 2: Neurology Version 8.120 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services UKGTN Radboud University Medical Center, Nijmegen Expert Expert Review Green 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 ARX in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory 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) Tags nucleotide-repeat-expansion
Amber ARX in Adult onset dystonia, chorea or related movement disorder Level 2: Neurology Version 5.3 Latest signed off version: v5.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber NHS GMS South West GLH 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 ARX in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	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 South West GLH Phenotypes Developmental and epileptic encephalopathy 1, OMIM:308350 X-linked spasticity-intellectual disability-epilepsy syndromeMONDO:0017856 Partington syndrome, OMIM:309510 Partington syndrome, MONDO:0010654