Motor Neurone Disease
Gene: IGHMBP2

IGHMBP2 (immunoglobulin mu binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000132740
EnsemblGeneIds (GRCh37): ENSG00000132740
OMIM: 600502, Gene2Phenotype
IGHMBP2 is in 9 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

SMA-like disorder with prominent diaphragmatic involvement but onset is in infancy. Included in Hereditary Neuropathy_Isolated panel.
Created: 28 Sep 2020, 12:37 a.m. | Last Modified: 28 Sep 2020, 5:18 a.m.

Panel Version: 0.106

Phenotypes
Neuronopathy, distal hereditary motor, type VI 604320

Created: 28 Sep 2020, 12:37 a.m.
Last Modified: 28 Sep 2020, 5:18 a.m.
Panel version: 0.106

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

>5 families reported with CMT2. Complete loss of protein function appears to result in the move severe condition (spinal muscular atrophy with respiratory distress type 1 (SMARD1) [MIM#604320])
Created: 8 Jul 2020, 3:13 a.m. | Last Modified: 8 Jul 2020, 3:18 a.m.

Panel Version: 0.47

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2S (MIM#616155)

Publications

25439726

Created: 8 Jul 2020, 3:13 a.m.
Last Modified: 8 Jul 2020, 3:18 a.m.
Panel version: Imported from Mendeliome panel version Imported from Hereditary Neuropathy_CMT - isolated panel version 0.47

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Expert list
Melbourne Genomics Health Alliance Complex Neurology Flagship
Victorian Clinical Genetics Services

Phenotypes

Neuronopathy, distal hereditary motor, type VI 604320

OMIM

600502

Clinvar variants

Variants in IGHMBP2

Penetrance

None

Panels with this gene