IGHMBP2

immunoglobulin mu binding protein 2
OMIM: 600502, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Red IGHMBP2 in Arthrogryposis Level 2: Neurology Version 9.31 Latest signed off version: v9.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Neuronopathy, distal hereditary motor, type VI 604320
Green IGHMBP2 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.169 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
Green IGHMBP2 in Paediatric motor neuronopathies Level 2: Neurology Version 3.13 Latest signed off version: v3.9 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Neuronopathy, distal hereditary motor, type VI, OMIM:604320
Green IGHMBP2 in DDG2P Version 6.438 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 604320
Green IGHMBP2 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.506	review	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH NHS GMS London North GLH Expert Review Green Emory Genetics Laboratory UKGTN Expert list Phenotypes Charcot-Marie-Tooth disease, axonal, type 2S 616155 Neuronopathy, distal hereditary motor, type VI, 604320
Red IGHMBP2 in Intellectual disability Level 2: Developmental disorders Version 9.330 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Neuronopathy, distal hereditary motor, type VI, 604320 Charcot-Marie-Tooth disease, axonal, type 2S, 616155
Green IGHMBP2 in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.43 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Expert Review Green UKGTN Emory Genetics Laboratory Expert list London North GLH NHS GMS South West GLH NHS GMS London North GLH Phenotypes Charcot-Marie-Tooth disease, axonal, type 2S 616155 Neuronopathy, distal hereditary motor, type VI, 604320