Neurodegenerative disorders, adult onset

Gene: IGHMBP2

I don't know

IGHMBP2 is associated with autosomal recessive Charcot-Marie-Tooth disease type 2S (CMT2S, OMIM:616155) and autosomal recessive Distal hereditary motor neuronopathy-1 (HMNR1, OMIM:604320) (accessed 10/2026).

NHS England review is ongoing to determine whether IGHMBP2 falls within the intended scope of the adult-onset neurodegenerative disorders panel, based on its potential diagnostic utility as a lower-motor-neuron-predominant MND mimic rather than an established association with adult-onset MND.

Created: 6 Oct 2026, 3:55 p.m. | Last Modified: 6 Oct 2026, 3:55 p.m.

Panel Version: 9.22

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2S (OMIM:616155); Neuronopathy, distal hereditary motor, autosomal recessive 1 (OMIM:604320)

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

• 26392352
• 34726235

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