RAPSN

receptor associated protein of the synapse
OMIM: 601592, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Red RAPSN in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.30

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Fetal Akinesia Deformation Sequence
  • Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, 608931Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptordeficiency, 608931Fetal akinesia deformation sequence, 208150

Green RAPSN in Neuromuscular disorders


Version 5.47
Signed off v.5.43 on 4 Mar 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • acute respiratory crises
  • Congenital Myasthenic Syndrome, Recessive
  • late and early onset
  • Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326
  • Congenital myasthenic syndrome

Green RAPSN in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.11
Signed off v.3.2 on 13 Feb 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Congenital Myasthenic Syndrome, Recessive
  • Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency,

Green RAPSN in Congenital myaesthenic syndrome

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.4
Signed off v.2.2 on 2 Mar 2020

Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    Phenotypes
    • Congenital Myasthenic Syndrome, Recessive
    • Congenital myasthenic syndrome
    • Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326
    • acute respiratory crises
    • late and early onset

    Red RAPSN in Limb girdle muscular dystrophy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.6
    Signed off v.2.4 on 2 Mar 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    • Yorkshire and North East GLH
    • Expert Review
    Phenotypes
    • Fetal akinesia deformation sequence 1, 208150
    • Congenital myasthenic syndrome
    • Limb-girdle muscular dystrophy

    Green RAPSN in Fetal anomalies


    Version 1.73
    Signed off v.1.2 on 17 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • FETAL AKINESIA DEFORMATION SEQUENCE
    • CONGENITAL MYASTHENIC SYNDROME WITH ACETYLCHOLINE RECEPTOR DEFICIENCY

    Green RAPSN in DDG2P


    Version 2.8
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CONGENITAL MYASTHENIC SYNDROME WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 608931
    • FETAL AKINESIA DEFORMATION SEQUENCE 208150

    Red RAPSN in Growth failure in early childhood


    Version 1.8
    Signed off v.1.4 on 3 Mar 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Fetal Akinesia Deformation Sequence
    • Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, 608931Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptordeficiency, 608931Fetal akinesia deformation sequence, 208150

    Red RAPSN in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.73
    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
    • Victorian Clinical Genetics Services
    • Expert Review Red
    Phenotypes
    • Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326

    Green RAPSN in Severe Paediatric Disorders


    Version 1.6

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Fetal akinesia deformation sequence 2, 618388
    • Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326