Paediatric motor neuronopathies
Gene: IGHMBP2
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
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
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.
Publications for gene: IGHMBP2 were set to 34726235
Publications for gene: IGHMBP2 were set to
Phenotypes for gene: IGHMBP2 were changed from Spinal muscular atrophy with respiratory distress, 604320 to Neuronopathy, distal hereditary motor, type VI, OMIM:604320
Gene panel promoted to v1 on 7 March 2017 following external review and internal curation
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
This gene has been classified as Green List (High Evidence).
Phenotypes for IGHMBP2 were set to Spinal muscular atrophy with respiratory distress, 604320
This gene has been classified as Green List (High Evidence).
IGHMBP2 was added to Paediatric motor neuronopathiespanel. Sources: Expert
IGHMBP2 was added to Paediatric motor neuronopathiespanel. Sources: UKGTN
IGHMBP2 was added to Paediatric motor neuronopathiespanel. Sources: Illumina TruGenome Clinical Sequencing Services