BICD2

BICD cargo adaptor 2
OMIM: 609797, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green BICD2 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.7
Latest signed off version: v6.0 (1 May 2024)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • arthrogryposis multiplex congenita
  • Spinal muscular atrophy, lower extremity-predominant, 2A, 615290
  • autosomal dominant, Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291
Green BICD2 in Fetal anomalies


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

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE
  • Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291
  • arthrogryposis multiplex congenita (AMC)
  • reduced fetal movements
  • hydrops fetalis
  • Pterygium
Green BICD2 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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, OMIM:615290
    Green BICD2 in DDG2P


    Version 4.5
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE
    Green BICD2 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.478

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • South West GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290
    Red BICD2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.24
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290
    Green BICD2 in Hereditary neuropathy or pain disorder


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

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • South West GLH
    • Expert Review Green
    • Expert list
    • London North GLH
    • NHS GMS
    • South West GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290
    Green BICD2 in Severe Paediatric Disorders


    Version 1.184

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291
    • Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, 615290