CP

ceruloplasmin
OMIM: 117700, ClinGen, DECIPHER

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green CP in Early-onset Dementia Level 2: Neurology and neurodevelopmental disorders Version 2.0	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 3.0	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 2.0	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 2.0	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 1.0	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 2.0	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 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Aceruloplasminaemia, MIM#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 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 and Chorea Level 2: Neurology and neurodevelopmental disorders Version 1.0	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 1.0	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 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources GeneReviews Expert Review Green Phenotypes Aceruloplasminemia
Green CP in Metal Metabolism Disorders Level 2: Metabolic disorders Version 1.0	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 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BabySeq Category B gene Phenotypes Aceruloplasminaemia, MIM#604290 Tags treatable metabolic