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Severe microcephaly

Gene: COPB1

Amber List (moderate evidence)

COPB1 (coatomer protein complex subunit beta 1)
EnsemblGeneIds (GRCh38): ENSG00000129083
EnsemblGeneIds (GRCh37): ENSG00000129083
OMIM: 600959, Gene2Phenotype
COPB1 is in 3 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

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
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

Arina Puzriakova (Genomics England Curator)

gene: COPB1 was added gene: COPB1 was added to Severe microcephaly. Sources: Literature 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 Baralle-Macken syndrome, OMIM:619255; Severe intellectual disability; Cataracts; Variable microcephaly