Paediatric motor neuronopathies
Gene: IGHMBP2EnsemblGeneIds (GRCh38): ENSG00000132740
EnsemblGeneIds (GRCh37): ENSG00000132740
OMIM: 600502, Gene2Phenotype
IGHMBP2 is in 7 panels
3 reviews
Pinki Munot (Consultant )
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)
Phenotypic overlap with early onset BVVLS associated with diaphragmatic palsy and respiratory failureCreated: 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 commentsCreated: 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 VICreated: 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 UKGTNCreated: 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
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: IGHMBP2 were set to 34726235
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: IGHMBP2 were set to
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
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
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
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Alice Gardham (Genomics England)Phenotypes for IGHMBP2 were set to Spinal muscular atrophy with respiratory distress, 604320
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)IGHMBP2 was added to Paediatric motor neuronopathiespanel. Sources: Expert
Added New Source
Antonio Rueda (GEL)IGHMBP2 was added to Paediatric motor neuronopathiespanel. Sources: UKGTN
Added New Source
Antonio Rueda (GEL)IGHMBP2 was added to Paediatric motor neuronopathiespanel. Sources: Illumina TruGenome Clinical Sequencing Services