ATP7A

Panel	Reviews	Mode of inheritance	Details
Filter panels 23 panels
Red ATP7A in Motor Neurone Disease Level 2: Neurology and neurodevelopmental disorders Version 1.24 Component of the following Super Panels: Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Expert list Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy, distal, X-linked 3, 300489
Green ATP7A in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 1.85	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Occipital horn syndrome, MIM#304150 Menkes disease, MIM#309400 Tags treatable
Green ATP7A in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.356	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 Literature Phenotypes Menkes disease MIM#3094009
Green ATP7A in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.140	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Menkes disease MIM#309400 Tags treatable
Green ATP7A in Mendeliome Version 1.1902	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Menkes disease MIM#309400 Occipital horn syndrome MIM#304150 Spinal muscular atrophy, distal, X-linked 3, MIM# 300489 Tags treatable
Green ATP7A in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Menkes disease MIM#309400 Tags treatable
Green ATP7A in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.522	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green ATP7A in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.556	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Menkes disease MIM#309400 Tags treatable
Green ATP7A in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Menkes disease MIM#309400 Tags treatable
Green ATP7A in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Expert Review Green UKGTN Expert Review Green Radboud University Medical Center, Nijmegen NHS GMS Expert list Emory Genetics Laboratory Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy, distal, 300489 Menkes disease 309400 Occipital horn syndrome 304150
Green ATP7A in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 0.308 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Menkes disease, 309400 Tags treatable
Green ATP7A in Hereditary Neuropathy_CMT - isolated Level 2: Neurology and neurodevelopmental disorders Version 1.48 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Green NHS GMS Royal Melbourne Hospital Phenotypes Spinal muscular atrophy, distal, X-linked 3, MIM# 300489 dHMN/dSMA
Green ATP7A in Cutis Laxa Level 2: Dermatological disorders Version 1.0	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green GeneReviews Expert list Phenotypes Occipital horn syndrome, MIM#304150 Menkes disease, MIM#309400
Green ATP7A 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 Menkes disease, 309400 (3)
Red ATP7A in Cerebral vascular malformations Level 2: Neurology and neurodevelopmental disorders Version 0.39 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 Genomics England PanelApp Expert Review Red Phenotypes Moyamoya disease
Green ATP7A in Hair disorders Level 2: Dermatological disorders Version 0.71	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Literature Victorian Clinical Genetics Services Phenotypes Menkes disease, 309400 Tags treatable
Green ATP7A in Additional findings_Paediatric Level 2: Screening Version 0.278	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green BabySeq Category C gene BabySeq Category A gene Phenotypes Menkes disease, MIM# 309400
Green ATP7A in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 1.46 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Phenotypes Menkes disease MIM#309400 Occipital horn syndrome MIM#304150 disorder of copper matabolism
Green ATP7A in Metal Metabolism Disorders Level 2: Metabolic disorders Version 0.45 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Disorders of copper metabolism Menkes disease MONDO:0010651, occipital Horn Syndrome (OHS, OMIM #304150), X-linked distal spinal muscular atrophy-3 (SMAX3, OMIM #300489)
Green ATP7A in Fetal anomalies Version 1.255	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Phenotypes Menkes disease, MIM# 309400 Tags treatable
Green ATP7A in Prepair 1000+ Level 2: Screening Version 1.9	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Menkes disease, 309400 (3)
Green ATP7A in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green BabySeq Category C gene BabySeq Category A gene Phenotypes Menkes disease, MIM# 309400 Tags treatable metabolic
Green ATP7A in Prepair 500+ Level 2: Screening Version 1.1	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Menkes disease, 309400 (3)

ATP7A

23 panels

Red ATP7A in Motor Neurone Disease

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Phenotypes

Green ATP7A in Aortopathy_Connective Tissue Disorders

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Phenotypes

Tags

Green ATP7A in Cerebral Palsy

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Phenotypes

Green ATP7A in Macrocephaly_Megalencephaly

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Phenotypes

Tags

Green ATP7A in Mendeliome

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Phenotypes

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Green ATP7A in Genetic Epilepsy

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Phenotypes

Tags

Green ATP7A in Callosome

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Green ATP7A in Regression

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Phenotypes

Tags

Green ATP7A in Intellectual disability syndromic and non-syndromic

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Phenotypes

Tags

Green ATP7A in Skeletal dysplasia

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Phenotypes

Green ATP7A in Leukodystrophy - paediatric

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Phenotypes

Tags

Green ATP7A in Hereditary Neuropathy_CMT - isolated

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Phenotypes

Green ATP7A in Cutis Laxa

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Phenotypes

Green ATP7A in Mackenzie's Mission_Reproductive Carrier Screening

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Phenotypes

Red ATP7A in Cerebral vascular malformations

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Phenotypes

Green ATP7A in Hair disorders

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Phenotypes

Tags

Green ATP7A in Additional findings_Paediatric

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Phenotypes

Green ATP7A in Miscellaneous Metabolic Disorders

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Phenotypes

Green ATP7A in Metal Metabolism Disorders

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Phenotypes

Green ATP7A in Fetal anomalies

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Phenotypes

Tags

Green ATP7A in Prepair 1000+

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Phenotypes

Green ATP7A in BabyScreen+ newborn screening

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Phenotypes

Tags

Green ATP7A in Prepair 500+

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Phenotypes