1. Genes and Genomic Entities
  2. IGHMBP2

IGHMBP2

immunoglobulin mu binding protein 2
OMIM: 600502, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Red IGHMBP2 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.3
Latest signed off version: v6.0 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Neuronopathy, distal hereditary motor, type VI 604320
Green IGHMBP2 in Fetal anomalies


Version 4.1
Latest signed off version: v4.0 (1 May 2024)

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 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 3.7
Latest signed off version: v3.6 (1 May 2024)

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 4.3
    Latest signed off version: v4.0 (1 May 2024)

    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 1.478

    		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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.13
    Latest signed off version: v6.0 (1 May 2024)

    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


    Version 4.11
    Latest signed off version: v4.0 (1 May 2024)

    		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
    Green IGHMBP2 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neuronopathy, distal hereditary motor, type VI, 604320
    • Charcot-Marie-Tooth disease, axonal, type 2S, 616155