Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: BRWD3

BRWD3 (bromodomain and WD repeat domain containing 3)
EnsemblGeneIds (GRCh38): ENSG00000165288
EnsemblGeneIds (GRCh37): ENSG00000165288
OMIM: 300553, Gene2Phenotype
BRWD3 is in 5 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

A de novo stop-gain variant (p.Gln1338*) was identified in an individual with craniosynostosis within the 100k genomes project cohort (PMID:34429528). In addition, one of 20 patients with sequence variants in BRWD3 gene (p.Gly707Val) from DECIPHER database (https://www.deciphergenomics.org/) was reported with craniosynostosis as one of the phenotypes.
Sources: Literature
Created: 20 Jul 2023, 9:26 a.m. | Last Modified: 20 Jul 2023, 9:34 a.m.

Panel Version: 4.109

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
craniosynostosis, MONDO:0015469

Publications

Created: 20 Jul 2023, 9:26 a.m.
Last Modified: 20 Jul 2023, 9:34 a.m.
Panel version: 4.108

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Literature

Phenotypes

craniosynostosis, MONDO:0015469

OMIM

300553

Clinvar variants

Variants in BRWD3

Penetrance

None

Publications

Panels with this gene

History Filter Activity

20 Jul 2023, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: BRWD3 were changed from to craniosynostosis, MONDO:0015469

20 Jul 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: BRWD3 was added gene: BRWD3 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: BRWD3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: BRWD3 were set to 34429528; 36980886 Review for gene: BRWD3 was set to RED

Rare syndromic craniosynostosis or isolated multisuture synostosis Gene: BRWD3