IGHMBP2

immunoglobulin mu binding protein 2
OMIM: 600502, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green IGHMBP2 in Neuromuscular disorders


Version 5.164
Latest signed off version: v5.43 (4 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spinal muscular atrophy with respiratory distress, 604320

Red IGHMBP2 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.98
Latest signed off version: v3.2 (13 Feb 2020)

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 1.648
Latest signed off version: v1.92 (21 Aug 2020)

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 1.62
Latest signed off version: v1.30 (4 Mar 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • 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 2.27
    Latest signed off version: v2.2 (13 Feb 2020)

    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 1.384

    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 3.1062
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 NOT PMP22 copy number


    Version 1.25
    Latest signed off version: v1.2 (27 Feb 2020)

    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 1.76

    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