Severe microcephaly
Gene: COPB2
COPB2 (coatomer protein complex subunit beta 2)
EnsemblGeneIds (GRCh38): ENSG00000184432
EnsemblGeneIds (GRCh37): ENSG00000184432
OMIM: 606990, Gene2Phenotype
COPB2 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000184432
EnsemblGeneIds (GRCh37): ENSG00000184432
OMIM: 606990, Gene2Phenotype
COPB2 is in 6 panels
1 review
Eleanor Williams (Genomics England Curator)
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: LiteratureCreated: 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