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Intellectual disability

Gene: COPB2

Green List (high evidence)
COPB2 (coatomer protein complex subunit beta 2)
EnsemblGeneIds (GRCh38): ENSG00000184432
EnsemblGeneIds (GRCh37): ENSG00000184432
OMIM: 606990, Gene2Phenotype
COPB2 is in 6 panels

2 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 14 Mar 2022, 2:22 p.m. | Last Modified: 14 Mar 2022, 2:22 p.m.
Panel Version: 3.1519
Created: 14 Mar 2022, 2:22 p.m.
Last Modified: 14 Mar 2022, 2:22 p.m.
Panel version: 3.1519

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Promoting from red to amber with a recommendation for green rating following GMS review.
Created: 15 Sep 2021, 5:10 p.m. | Last Modified: 15 Sep 2021, 5:10 p.m.
Panel Version: 3.1277
Comment on mode of inheritance: 4 families with heterozygous variants and 1 with biallelic (more severe phenotype)
Created: 15 Sep 2021, 5:03 p.m. | Last Modified: 15 Sep 2021, 5:03 p.m.
Panel Version: 3.1276
PMID: 34450031 - Marom et al 2021 describes 6 individuals from 5 families. In 4 families loss of function heterozygous variants in COPB2 were found. In the 5th family, two affected siblings were found to have a homozygous variant in COPB2. Osteopenia was noted in 4/5 families (5th unknown) and fractures in 2/5. Developmental delay was observed in all 6 individuals with variable severity. Severe intellectual disability, seizures and microcephaly was noted in the siblings with the homozygous variants. Copb2þ +/-mice exhibit low bone mass

PMID: 29036432 - original report of microcephaly in the two siblings with the COPB2 homozygous variant.
Created: 15 Sep 2021, 5:02 p.m. | Last Modified: 15 Sep 2021, 5:09 p.m.
Panel Version: 3.1276

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
osteoporosis; developmental delay

Publications

Created: 15 Sep 2021, 5:02 p.m.
Last Modified: 15 Sep 2021, 5:09 p.m.
Panel version: 3.1275

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • osteoporosis
  • developmental delay
OMIM
606990
Clinvar variants
Variants in COPB2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag Q3_21_rating was removed from gene: COPB2.

14 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to COPB2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

15 Sep 2021, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: copb2 has been classified as Amber List (Moderate Evidence).

15 Sep 2021, Gel status: 1

Added Tag

Eleanor Williams (Genomics England Curator)

Tag Q3_21_rating tag was added to gene: COPB2.

15 Sep 2021, Gel status: 1

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: COPB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

15 Sep 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: COPB2 was added gene: COPB2 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: COPB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COPB2 were set to 34450031 Phenotypes for gene: COPB2 were set to osteoporosis; developmental delay Review for gene: COPB2 was set to GREEN