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  3. COPB1
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DDG2P

Gene: COPB1

Red List (low evidence)
COPB1 (coatomer protein complex subunit beta 1)
EnsemblGeneIds (GRCh38): ENSG00000129083
EnsemblGeneIds (GRCh37): ENSG00000129083
OMIM: 600959, Gene2Phenotype
COPB1 is in 4 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for COPB1-related severe intellectual disability syndrome with cataracts and variable microcephaly are limited, biallelic_autosomal and undetermined (PMID:33632302). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03110.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease COPB1-related severe intellectual disability syndrome with cataracts and variable microcephaly is limited. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID:33632302).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
COPB1-related severe intellectual disability syndrome with cataracts and variable microcephaly; MONDO:0031002; OMIM:619255.0

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • DD-Gene2Phenotype
Phenotypes
  • COPB1-related severe intellectual disability syndrome with cataracts and variable microcephaly
OMIM
600959
Clinvar variants
Variants in COPB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 1

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: COPB1 was changed from Other to None

4 Oct 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: COPB1 was added gene: COPB1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: COPB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COPB1 were set to 33632302 Phenotypes for gene: COPB1 were set to COPB1-related severe intellectual disability syndrome with cataracts and variable microcephaly Mode of pathogenicity for gene: COPB1 was set to Other