CHMP2B

charged multivesicular body protein 2B
OMIM: 609512, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green CHMP2B in Early onset dementia (encompassing fronto-temporal dementia and prion disease) Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Frontotemporal Dementia Dementia, familial, nonspecific, 600795Amyotrophic lateral sclerosis 17, 614696
Green CHMP2B in Early onset dystonia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.147	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Emory Genetics Laboratory Phenotypes Dystonia Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 familial frontotemporal lobar degeneration (ALS17)
Green CHMP2B in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Frontotemporal dementia and/or amytrophic lateral sclerosis 7, OMIM:600795 Dystonia
Red CHMP2B in Amyotrophic lateral sclerosis/motor neuron disease Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.69	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Dementia, familial, nonspecific, 600795 Amyotrophic lateral sclerosis 17, 614696
Green CHMP2B in Adult onset dystonia, chorea or related movement disorder Version 3.18 Latest signed off version: v3.12 (31 Jul 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS London North GLH Expert Review Green Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, OMIM:600795
Red CHMP2B in Childhood onset dystonia, chorea or related movement disorder Version 3.78 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PanelApp Expert Review Red London North GLH Phenotypes familial frontotemporal lobar degeneration (ALS17) Dystonia Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Green CHMP2B in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Dementia, familial, nonspecific, 600795 Amyotrophic lateral sclerosis 17, 614696