C9orf72

C9orf72-SMCR8 complex subunit
OMIM: 614260, ClinGen, DECIPHER

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
No list C9orf72 in Early-onset Dementia Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Expert list Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550 Tags STR
No list C9orf72 in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 3.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550 Tags STR
No list C9orf72 in Incidentalome Version 1.0	2 reviews	Unknown	Sources Expert Review Removed Expert list Victorian Clinical Genetics Services Tags STR
No list C9orf72 in Dystonia and Chorea Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Expert list Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, MIM# 105550 Tags STR
Green C9orf72 in Incidentalome_PREGEN_DRAFT Version 1.0	1 review	Unknown	Sources NSW Health Pathology Expert Review Green
Green C9orf72_FTDALS_GGGGCC STR in Early-onset Dementia Level 2: Neurology and neurodevelopmental disorders Version 2.0	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550
Green C9orf72_FTDALS_GGGGCC STR in Motor Neurone Disease Level 2: Neurology and neurodevelopmental disorders Version 2.0	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550
Green C9orf72_FTDALS_GGGGCC STR in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 3.0	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550
Green C9orf72_FTDALS_GGGGCC STR in Incidentalome Version 1.0	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550
Green C9orf72_FTDALS_GGGGCC STR in Dystonia and Chorea Level 2: Neurology and neurodevelopmental disorders Version 1.0	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550
Green C9orf72_FTDALS_GGGGCC STR in Leukodystrophy Level 2: Neurology and neurodevelopmental disorders Version 1.0	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Expert Review Green Literature Phenotypes frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MONDO:0007105
Green C9orf72_FTDALS_GGGGCC STR in Repeat Disorders Version 1.0	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550 Tags adult-onset