CP:Ensemblv90

Panel	Reviews	Mode of inheritance	Details
Filter panels 25 panels
Green CP in Early-onset Dementia Level 2: Neurology and neurodevelopmental disorders Version 1.52 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hemosiderosis, systemic, due to aceruloplasminemia MIM#604290
Green CP in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 2.44 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions Tremors_Superpanel	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Aceruloplasminaemia, MIM#604290
Green CP in Mendeliome Version 1.3802	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aceruloplasminaemia, MIM#604290
Amber CP in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.309 Component of the following Super Panels: Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Hemosiderosis, systemic, due to aceruloplasminemia MIM#604290
Green CP in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.601	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aceruloplasminaemia, MIM#604290
Green CP in Additional findings_Adult Level 2: Screening Version 1.130	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Aceruloplasminaemia, MIM#604290
Red CP in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Aceruloplasminaemia, MIM#604290
Green CP in Ataxia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.62 Component of the following Super Panels: Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Aceruloplasminemia, 604290 Cerebellar ataxia, 604290 Hemosiderosis, systemic, due to aceruloplasminemia, 604290
Green CP in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 1.162 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Aceruloplasminemia, 604290 Cerebellar ataxia, 604290 Hemosiderosis, systemic, due to aceruloplasminemia, 604290
Green CP in Dystonia - complex Level 2: Neurology and neurodevelopmental disorders Version 0.290 Component of the following Super Panels: Dystonia_Superpanel Progressive Neurological Conditions Tremors_Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Aceruloplasminaemia, MIM#604290
Amber CP in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BabySeq Category B gene Phenotypes Aceruloplasminaemia
Green CP in Neurodegeneration with brain iron accumulation Level 2: Neurology and neurodevelopmental disorders Version 1.3 Component of the following Super Panels: Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources GeneReviews Expert Review Green Phenotypes Aceruloplasminemia
Green CP in Metal Metabolism Disorders Level 2: Metabolic disorders Version 0.52 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Phenotypes 604290 ACERULOPLASMINEMIA 604290 Hemosiderosis, systemic, due to aceruloplasminemia
Amber CP in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BabySeq Category B gene Phenotypes Aceruloplasminaemia, MIM#604290 Tags treatable metabolic
Green CP in Early-onset Dementia Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hemosiderosis, systemic, due to aceruloplasminemia MIM#604290
Green CP in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 3.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Complex Neurology Flagship Expert Review Green Phenotypes Aceruloplasminaemia, MIM#604290
Amber CP in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Hemosiderosis, systemic, due to aceruloplasminemia MIM#604290
Green CP in Regression Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Aceruloplasminaemia, MIM#604290
Green CP in Additional findings_Adult Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Aceruloplasminaemia, MIM#604290
Green CP in Ataxia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green Royal Melbourne Hospital Phenotypes Aceruloplasminemia, 604290 Cerebellar ataxia, 604290 Hemosiderosis, systemic, due to aceruloplasminemia, 604290
Green CP in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Royal Melbourne Hospital Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Aceruloplasminemia, 604290 Cerebellar ataxia, 604290 Hemosiderosis, systemic, due to aceruloplasminemia, 604290
Green CP in Dystonia - complex Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Royal Melbourne Hospital Expert Review Green Phenotypes Aceruloplasminaemia, MIM#604290
Green CP in Neurodegeneration with brain iron accumulation Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green GeneReviews Phenotypes Aceruloplasminemia
Green CP in Metal Metabolism Disorders Level 2: Metabolic disorders Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Genomics England PanelApp Expert Review Green NHS Genomic Medicine Service Phenotypes 604290 ACERULOPLASMINEMIA 604290 Hemosiderosis, systemic, due to aceruloplasminemia
Amber CP in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category B gene Expert Review Amber Phenotypes Aceruloplasminaemia, MIM#604290 Tags treatable metabolic

CP:Ensemblv90

25 panels

Green CP in Early-onset Dementia

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Phenotypes

Green CP in Early-onset Parkinson disease

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Phenotypes

Green CP in Mendeliome

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Phenotypes

Amber CP in Genetic Epilepsy

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Phenotypes

Green CP in Regression

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Phenotypes

Green CP in Additional findings_Adult

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Phenotypes

Red CP in Intellectual disability syndromic and non-syndromic

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Phenotypes

Green CP in Ataxia - adult onset

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Phenotypes

Green CP in Ataxia

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Phenotypes

Green CP in Dystonia - complex

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Phenotypes

Amber CP in Additional findings_Paediatric

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Phenotypes

Green CP in Neurodegeneration with brain iron accumulation

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Phenotypes

Green CP in Metal Metabolism Disorders

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Phenotypes

Amber CP in Genomic newborn screening: BabyScreen+

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Phenotypes

Tags

Green CP in Early-onset Dementia

Sources

Phenotypes

Green CP in Early-onset Parkinson disease

Sources

Phenotypes

Amber CP in Genetic Epilepsy

Sources

Phenotypes

Green CP in Regression

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Phenotypes

Green CP in Additional findings_Adult

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Phenotypes

Green CP in Ataxia - adult onset

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Phenotypes

Green CP in Ataxia

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Phenotypes

Green CP in Dystonia - complex

Sources

Phenotypes

Green CP in Neurodegeneration with brain iron accumulation

Sources

Phenotypes

Green CP in Metal Metabolism Disorders

Sources

Phenotypes

Amber CP in Genomic newborn screening: BabyScreen+

Sources

Phenotypes

Tags