Paediatric motor neuronopathies

Gene: IGHMBP2

Green List (high evidence)

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

3 reviews

Pinki Munot (Consultant )

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SMARD1 ( floppy infant with weak diaphragm); distal motor neuropathy

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

Dragana Josifova (Guy's and St. Thomas' NHS Trust)

Green List (high evidence)

Phenotypic overlap with early onset BVVLS associated with diaphragmatic palsy and respiratory failure
Created: 26 Nov 2016, 4:50 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Variants in this GENE are reported as part of current diagnostic practice

Alice Gardham (Genomics England)

Comment on 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: 21 Dec 2016, 8:58 a.m.
Comment on phenotypes: Mutations cause autosomal recessive distal spinal muscular atrophy-1 (DSMA1), also referred to as spinal muscular atrophy with respiratory distress (SMARD1) and distal hereditary motor neuronopathy type VI
Created: 2 Nov 2016, 12:17 p.m.
Comment on list classification: Well recognised as causing SMA with respiratory distress. Listed in G2P and offered on UKGTN
Created: 2 Nov 2016, 12:16 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Neuronopathy, distal hereditary motor, type VI, OMIM:604320
OMIM
600502
Clinvar variants
Variants in IGHMBP2
Penetrance
Complete
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

10 Feb 2023, Gel status: 3

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: IGHMBP2 were set to 34726235

10 Feb 2023, Gel status: 3

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: IGHMBP2 were set to

18 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: IGHMBP2 were changed from Spinal muscular atrophy with respiratory distress, 604320 to Neuronopathy, distal hereditary motor, type VI, OMIM:604320

7 Mar 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Gene panel promoted to v1 on 7 March 2017 following external review and internal curation

21 Dec 2016, Gel status: 4

Set mode of pathogenicity

Alice Gardham (Genomics England)

Mode of pathogenicity for IGHMBP2 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

2 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

2 Nov 2016, Gel status: 4

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for IGHMBP2 were set to Spinal muscular atrophy with respiratory distress, 604320

2 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

8 May 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

IGHMBP2 was added to Paediatric motor neuronopathiespanel. Sources: Expert

30 Apr 2015, Gel status: 2

Added New Source

Antonio Rueda (GEL)

IGHMBP2 was added to Paediatric motor neuronopathiespanel. Sources: UKGTN

30 Apr 2015, Gel status: 1

Added New Source

Antonio Rueda (GEL)

IGHMBP2 was added to Paediatric motor neuronopathiespanel. Sources: Illumina TruGenome Clinical Sequencing Services