Severe microcephaly
Gene: COPB1

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

1 review

Arina Puzriakova (Genomics England Curator)

COPB1 is associated with a relevant phenotype in OMIM (MIM# 619255) and has a 'possible' disease confidence rating for 'COPB1-related severe intellectual disability syndrome with cataracts and variable microcephaly' in Gene2Phenotype.

- PMID: 33632302 (2021) - six individuals from two unrelated families with different homozygous variants in this gene. Affected patients developed cataracts, severe ID and variable microcephaly - at least 1 individual from each family with microcephaly of relevant severity to this panel (HC ≥ -3SD). Some supportive functional data.

Rating Amber, awaiting further cases.
Sources: Literature
Created: 30 Apr 2021, 8:59 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Baralle-Macken syndrome, OMIM:619255; Severe intellectual disability; Cataracts; Variable microcephaly

Publications

33632302

Created: 30 Apr 2021, 8:59 a.m.

Panel version: 2.112

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Literature

Phenotypes

Baralle-Macken syndrome, OMIM:619255
Severe intellectual disability
Cataracts
Variable microcephaly

OMIM

600959

Clinvar variants

Variants in COPB1

Penetrance

None

Publications

33632302

Panels with this gene

History Filter Activity

30 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: copb1 has been classified as Amber List (Moderate Evidence).

30 Apr 2021, Gel status: 1

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