Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: ZBTB20

ZBTB20 (zinc finger and BTB domain containing 20)
EnsemblGeneIds (GRCh38): ENSG00000181722
EnsemblGeneIds (GRCh37): ENSG00000181722
OMIM: 606025, Gene2Phenotype
ZBTB20 is in 8 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

A de novo missense variant (c.1948A>C; p.Asn650His) was identified in an individual from the 100k genomes project with craniosynostosis, congenital heart disease, intellectual disability, and spinal anomalies (PMID:34429528).
Sources: Literature
Created: 23 Jul 2023, 7:58 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Primrose syndrome, OMIM:259050; craniosynostosis, MONDO:0015469

Publications

Created: 23 Jul 2023, 7:58 p.m.

Panel version: 4.169

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Literature

Phenotypes

Primrose syndrome, OMIM:259050
craniosynostosis, MONDO:0015469

OMIM

606025

Clinvar variants

Variants in ZBTB20

Penetrance

None

Publications

Panels with this gene

History Filter Activity

23 Jul 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ZBTB20 was added gene: ZBTB20 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: ZBTB20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZBTB20 were set to 34429528; 36980886 Phenotypes for gene: ZBTB20 were set to Primrose syndrome, OMIM:259050; craniosynostosis, MONDO:0015469 Review for gene: ZBTB20 was set to RED

Rare syndromic craniosynostosis or isolated multisuture synostosis Gene: ZBTB20