Motor Neurone Disease
Gene: CHMP2B

CHMP2B (charged multivesicular body protein 2B)
EnsemblGeneIds (GRCh38): ENSG00000083937
EnsemblGeneIds (GRCh37): ENSG00000083937
OMIM: 609512, Gene2Phenotype
CHMP2B is in 5 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Definitive gene-disease association by ClinGen - https://search.clinicalgenome.org/CCID:004450
"This classification was approved by the ClinGen ALS GCEP on 07/12/2022 (SOPv8)."
Created: 8 Apr 2024, 6:36 a.m. | Last Modified: 8 Apr 2024, 6:36 a.m.

Panel Version: 1.8

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (MONDO:0010936)

Publications

https://search.clinicalgenome.org/CCID:004450

Created: 8 Apr 2024, 6:36 a.m.
Last Modified: 8 Apr 2024, 6:36 a.m.
Panel version: 1.8

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: >3 ALS cases with/without FTD, and a mouse model
Created: 18 Dec 2019, 5:58 a.m. | Last Modified: 18 Dec 2019, 5:58 a.m.

Panel Version: 0.4

Created: 18 Dec 2019, 5:58 a.m.
Last Modified: 18 Dec 2019, 5:58 a.m.
Panel version: Imported from Amyotrophic Lateral Sclerosis and Motor Neuron Disease panel version 0.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Royal Melbourne Hospital
Melbourne Genomics Health Alliance Complex Neurology Flagship
Victorian Clinical Genetics Services

Phenotypes

Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (MIM#600795, MONDO:0010936)

OMIM

609512

Clinvar variants

Variants in CHMP2B

Penetrance

None

Publications

Mode of Pathogenicity

Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Panels with this gene