COPB2

coatomer protein complex subunit beta 2
OMIM: 606990, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red COPB2 in Severe microcephaly


Level 2: Neurology
Version 8.31
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Microcephaly, HP:0000252
Green COPB2 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.34
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • NHS GMS
    Phenotypes
    • juvenile osteoporosis
    • Osteopenia
    • Osteoporosis
    • recurrent fractures
    Amber COPB2 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • ?Microcephaly 19, primary, autosomal recessive, OMIM:617800
    • Osteoporosis, childhood- or juvenile-onset, with developmental delay, OMIM:619884
    Green COPB2 in Osteogenesis imperfecta


    Level 2: Musculoskeletal
    Version 5.4
    Latest signed off version: v5.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • juvenile osteoporosis
    • Osteopenia
    • Osteoporosis
    • recurrent fractures
    Tags
    • watchlist_moi
    Green COPB2 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • COPB2-associated developmental delay and microcephaly, OMIM:617800
    • COPB2-related developmental delay and osteopenia
    Green COPB2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.281
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • osteoporosis
    • developmental delay