Adult onset neurodegenerative disorder
Gene: IGHMBP2

IGHMBP2 (immunoglobulin mu binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000132740
EnsemblGeneIds (GRCh37): ENSG00000132740
OMIM: 600502, Gene2Phenotype
IGHMBP2 is in 8 panels

1 review

Oliver Ziff (University College London)

Causes a slowly progressive adult-onset distal SMA. Phenotypically overlaps with LMN-variant MND. Needs inclusion in R460.1 ALS panel to avoid R78 reanalysis.
Sources: Expert Review, Literature
Created: 22 May 2026, 1:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2S 616155; Neuronopathy, distal hereditary motor, type VI, 604320

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

Created: 22 May 2026, 1:27 p.m.

Panel version: 9.1

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Phenotypes

Charcot-Marie-Tooth disease, axonal, type 2S 616155
Neuronopathy, distal hereditary motor, type VI, 604320

OMIM

600502

Clinvar variants

Variants in IGHMBP2

Penetrance

Incomplete

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

History Filter Activity

22 May 2026, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity

Oliver Ziff (University College London)

gene: IGHMBP2 was added gene: IGHMBP2 was added to Adult onset neurodegenerative disorder. Sources: Expert Review,Literature Mode of inheritance for gene: IGHMBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IGHMBP2 were set to 26392352; 34726235 Phenotypes for gene: IGHMBP2 were set to Charcot-Marie-Tooth disease, axonal, type 2S 616155; Neuronopathy, distal hereditary motor, type VI, 604320 Penetrance for gene: IGHMBP2 were set to Incomplete Mode of pathogenicity for gene: IGHMBP2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Adult onset neurodegenerative disorder Gene: IGHMBP2