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Severe microcephaly

Gene: COPB2

Red List (low evidence)

COPB2 (coatomer protein complex subunit beta 2)
EnsemblGeneIds (GRCh38): ENSG00000184432
EnsemblGeneIds (GRCh37): ENSG00000184432
OMIM: 606990, Gene2Phenotype
COPB2 is in 4 panels

1 review

Eleanor Williams (Genomics England Curator)

Red List (low evidence)

PMID: 29036432 - DiStasio et al 2017 - report of severe microcephaly (developing to be below -4.0 SD) and severe intellectual disability in the two siblings with a COPB2 homozygous variant.

The siblings were later investigated for low bone mass in PMID: 34450031 - Marom et al 2021 (in which heterozygous variants in COPB2 in 4 other families with probands with osteoporosis and developmental delay were identified, but no microcephaly reported).
Sources: Literature
Created: 15 Sep 2021, 6:12 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly, HP:0000252

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Microcephaly, HP:0000252
OMIM
606990
Clinvar variants
Variants in COPB2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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 Severe microcephaly. Sources: Literature Mode of inheritance for gene: COPB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COPB2 were set to 29036432 Phenotypes for gene: COPB2 were set to Microcephaly, HP:0000252 Review for gene: COPB2 was set to RED