GDAP1

ganglioside induced differentiation associated protein 1
OMIM: 606598, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Red GDAP1 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.52
Signed off v.3.2 on 13 Feb 2020

review Not set
Sources
  • Expert Review Red
  • Expert list

Green GDAP1 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.440

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Charcot Marie Tooth disease (CMT4A)
  • Charcot-Marie-Tooth disease, axonal, type 2K
  • Charcot-Marie-Tooth disease, axonal, with vocal cord paresis
  • Charcot-Marie-Tooth disease, recessive intermediate, A
  • Charcot-Marie-Tooth disease, type 4A

Green GDAP1 in Inborn errors of metabolism


Version 2.50
Signed off v.2.3 on 17 Feb 2020

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Charcot Marie Tooth disease (CMT4A)
    • Charcot-Marie-Tooth disease, type 4A
    • Charcot-Marie-Tooth disease, axonal, with vocal cord paresis
    • Charcot-Marie-Tooth disease, recessive intermediate, A
    • Charcot-Marie-Tooth disease, axonal, type 2K

    Green GDAP1 in Possible mitochondrial disorder - nuclear genes


    Version 1.31
    Signed off v.1.17 on 11 Nov 2020

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Charcot-Marie-Tooth disease, axonal, type 2K, 607831
    • Charcot-Marie-Tooth disease, recessive intermediate, A, 608340
    • Charcot-Marie-Tooth disease, type 4A, 214400
    • Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706

    Green GDAP1 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.383

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • South West GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Charcot Marie Tooth disease, axonal, type 2K, 607831
    • Charcot Marie Tooth disease, type 4A, 214400
    • Charcot-Marie-Tooth, Intermediate (Dominant)
    • Charcot Marie Tooth disease, type 4A, 214400
    • Charcot Marie Tooth disease, recessive intermediate, A, 608340
    • Charcot Marie Tooth disease, axonal, type 2K, 607831
    • Charcot-Marie-Tooth, Intermediate (Dominant)
    • Charcot-Marie-Tooth with Vocal Cord Paresis (recessive)
    • Charcot Marie Tooth disease, recessive intermediate, A, 608340

    Red GDAP1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.740
    Signed off v.3.2 on 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
    • Expert Review Red
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Charcot-Marie-Tooth disease, type 4A, 214400
    • Charcot-Marie-Tooth
    • disease, axonal, with vocal cord paresis, 607706
    • Charcot-Marie-Tooth disease, axonal, type 2K, 607831
    • Charcot-Marie-Tooth disease, recessive
    • intermediate, A, 608340

    Green GDAP1 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.14
    Signed off v.2.4 on 17 Feb 2020

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Charcot Marie Tooth disease (CMT4A)
    • Charcot-Marie-Tooth disease, axonal, type 2K
    • Charcot-Marie-Tooth disease, axonal, with vocal cord paresis
    • Charcot-Marie-Tooth disease, recessive intermediate, A
    • Charcot-Marie-Tooth disease, type 4A

    Green GDAP1 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.21
    Signed off v.1.2 on 27 Feb 2020

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Radboud University Medical Center, Nijmegen
    • South West GLH
    • Expert Review Green
    • UKGTN
    • Emory Genetics Laboratory
    • Expert list
    • London North GLH
    • Illumina TruGenome Clinical Sequencing Services
    • NHS GMS
    • South West GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Charcot Marie Tooth disease, recessive intermediate, A, 608340
    • Charcot-Marie-Tooth with Vocal Cord Paresis (recessive)
    • Charcot Marie Tooth disease, type 4A, 214400
    • Charcot Marie Tooth disease, axonal, type 2K, 607831
    • Charcot-Marie-Tooth, Intermediate (Dominant)

    Red GDAP1 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.74
    Signed off v.1.58 on 6 Oct 2020

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green GDAP1 in Severe Paediatric Disorders


    Version 1.43

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706
    • Charcot-Marie-Tooth disease, axonal, type 2K, 607831
    • Charcot-Marie-Tooth disease, type 4A, 214400
    • Charcot-Marie-Tooth disease, recessive intermediate, A, 608340