Genomics England
GMS Panels
Panels
Genes and Entities

COPB2

coatomer protein complex subunit beta 2
OMIM: 606990
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
COPB2-associated developmental delay and microcephaly, OMIM:617800, COPB2-related developmental delay and osteopenia
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 9.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
osteoporosis, developmental delay
Green
in Osteogenesis imperfecta
R-numbers: R102
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
juvenile osteoporosis, Osteopenia, Osteoporosis, recurrent fractures
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 8.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
juvenile osteoporosis, Osteopenia, Osteoporosis, recurrent fractures