ARX

Panel	Reviews	Mode of inheritance	Details
Filter panels 21 panels
Green ARX in Lissencephaly and Band Heterotopia Level 2: Neurology and neurodevelopmental disorders Version 1.21 Component of the following Super Panels: Malformations of cortical development_Superpanel	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Brain Malformations Flagship Phenotypes Lissencephaly, X-linked 2, MIM# 300215
Green ARX in Polymicrogyria and Schizencephaly Level 2: Neurology and neurodevelopmental disorders Version 0.195 Component of the following Super Panels: Malformations of cortical development_Superpanel	review	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Brain Malformations Flagship
Amber ARX in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.417 Component of the following Super Panels: Neuromuscular Superpanel	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Victorian Clinical Genetics Services 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 Autism Level 2: Neurology and neurodevelopmental disorders Version 0.205	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green ARX in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.389	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Phenotypes Developmental and epileptic encephalopathy 1, MIM# 308350 Lissencephaly, X-linked 2, MIM# 300215 Proud syndrome, MIM# 300004
Green ARX in Differences of Sex Development Level 2: Dysmorphic and congenital abnormality syndromes Version 1.8	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 Victorian Clinical Genetics Services Phenotypes X-linked lissencephaly with abnormal genitalia, MONDO:0010268
Amber ARX in Hydrocephalus_Ventriculomegaly Level 2: Neurology and neurodevelopmental disorders Version 0.127	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Hydranencephaly with abnormal genitalia, MIM# 300215
Green ARX in Mendeliome Version 1.2374	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 Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 1 MIM#308350 Hydranencephaly with abnormal genitalia MIM#300215 Lissencephaly, X-linked 2 MIM#300215 Mental retardation, X-linked 29 and others MIM#300419 Partington syndrome MIM#309510 Proud syndrome MIM#300004
Green ARX in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.119 Component of the following Super Panels: Progressive Neurological Conditions	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 Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epileptic encephalopathy, early infantile, 1 MIM#308350 Hydranencephaly with abnormal genitalia MIM#300215 Lissencephaly, X-linked 2 MIM#300215 Mental retardation, X-linked 29 and others MIM#300419 Partington syndrome MIM#309510 Proud syndrome MIM#300004
Green ARX in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.540	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green ARX in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Lissencephaly, X-linked 2, MIM# 300215
Green ARX in Dystonia - complex Level 2: Neurology and neurodevelopmental disorders Version 0.272 Component of the following Super Panels: Dystonia_Superpanel Progressive Neurological Conditions Tremors_Superpanel	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 Royal Melbourne Hospital Phenotypes Partington syndrome, MIM# 309510 Dystonia
Green ARX in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Hydranencephaly with abnormal genitalia, 300215 (3)
Red ARX in Cerebral vascular malformations Level 2: Neurology and neurodevelopmental disorders Version 1.0 Component of the following Super Panels: Progressive Neurological Conditions	review	Not set	Sources Expert Review Red Genomics England PanelApp Phenotypes Cerebral Malformation Disorders
Green ARX in Additional findings_Paediatric Level 2: Screening Version 0.278	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Lissencephaly, X-linked 2
Green ARX in Fetal anomalies Version 1.314	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Hydranencephaly with abnormal genitalia, MIM# 300215 Lissencephaly, X-linked 2, MIM# 300215
Green ARX in Prepair 1000+ Level 2: Screening Version 1.1586	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Developmental and epileptic encephalopathy 1, MIM#30835 Hydranencephaly with abnormal genitalia, MIM#300215 Intellectual developmental disorder, X-linked 29, MIM#300419 Lissencephaly, X-linked 2, MIM#300215 Partington syndrome, MIM#309510 Proud syndrome, MIM#300004
Red ARX in BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BabySeq Category A gene Phenotypes Lissencephaly, X-linked 2, MIM# 300215
Green ARX in Prepair 500+ Level 2: Screening Version 1.5	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Hydranencephaly with abnormal genitalia, 300215 (3)
Green EIEE1_tract1 STR in Repeat Disorders Version 0.168	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Developmental and epileptic encephalopathy 1 MIM#308350 Intellectual disability, X-linked 29 and others MIM#300419 Partington syndrome MIM#309510 Tags paediatric-onset
Green EIEE1_tract2 STR in Repeat Disorders Version 0.168	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Developmental and epileptic encephalopathy 1 MIM#308350 Intellectual disability, X-linked 29 and others MIM#300419 Partington syndrome MIM#309510 Tags paediatric-onset

ARX

21 panels

Green ARX in Lissencephaly and Band Heterotopia

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Phenotypes

Green ARX in Polymicrogyria and Schizencephaly

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Amber ARX in Arthrogryposis

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Phenotypes

Green ARX in Autism

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Green ARX in Cerebral Palsy

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Phenotypes

Green ARX in Differences of Sex Development

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Phenotypes

Amber ARX in Hydrocephalus_Ventriculomegaly

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Phenotypes

Green ARX in Mendeliome

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Phenotypes

Green ARX in Genetic Epilepsy

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Phenotypes

Green ARX in Callosome

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Green ARX in Intellectual disability syndromic and non-syndromic

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Phenotypes

Green ARX in Dystonia - complex

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Phenotypes

Green ARX in Mackenzie's Mission_Reproductive Carrier Screening

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Phenotypes

Red ARX in Cerebral vascular malformations

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Phenotypes

Green ARX in Additional findings_Paediatric

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Phenotypes

Green ARX in Fetal anomalies

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Phenotypes

Green ARX in Prepair 1000+

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Phenotypes

Red ARX in BabyScreen+ newborn screening

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Phenotypes

Green ARX in Prepair 500+

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Phenotypes

Green EIEE1_tract1 STR in Repeat Disorders

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Phenotypes

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Green EIEE1_tract2 STR in Repeat Disorders

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Phenotypes

Tags