1. Panels
  2. Fetal anomalies
  3. CDC42BPB
Genes in panel
Prev Next

Fetal anomalies

Gene: CDC42BPB

Green List (high evidence)
CDC42BPB (CDC42 binding protein kinase beta)
EnsemblGeneIds (GRCh38): ENSG00000198752
EnsemblGeneIds (GRCh37): ENSG00000198752
OMIM: 614062, Gene2Phenotype
CDC42BPB is in 4 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Created: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.
Panel Version: 6.149
This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.150

Elizabeth Scotchman (North Thames Genomic Laboratory Hub)

Green List (high evidence)

Not green on any UK panel (but last updated 2020). Green on Aus Intellectual disability syndromic and non-syndromic panel and Mendeliome panel. PMID 32031333 reports 14 unrelated patients. Brain imaging showed nonspecific abnormalities in 4 patients, including cerebellar hypoplasia, thin or absent corpus callosum, white matter loss, and enlarged ventricles. Brain imaging was normal in other patients tested. One patient (individual 4) was a male fetus with cystic hygroma and progressive ventriculomegaly found on prenatal ultrasound.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Chilton-Okur-Chung neurodevelopmental syndrome, OMIM:619841

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Chilton-Okur-Chung neurodevelopmental syndrome, OMIM:619841
OMIM
614062
Clinvar variants
Variants in CDC42BPB
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Chilton-Okur-Chung neurodevelopmental syndrome, OMIM:619841 for gene: CDC42BPB

9 Mar 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: CDC42BPB was added gene: CDC42BPB was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: CDC42BPB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted