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  3. BRD4
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Intellectual disability syndromic and non-syndromic

Gene: BRD4

Green List (high evidence)
BRD4 (bromodomain containing 4)
EnsemblGeneIds (GRCh38): ENSG00000141867
EnsemblGeneIds (GRCh37): ENSG00000141867
OMIM: 608749, Gene2Phenotype
BRD4 is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 1% of patients have mutations in the BRD4 gene.

Olley et al. (2018) report 4 patients with CdLS phenotype with 4 different variants (1 deletion incl BRD4, 1 missense, and 2 frameshift). Alesi et al. (2019) reported a patient with 19p13.12p13.11 deletion including BRD4 with CdLS phenotype.

Olley et al (2021) provided further functional evidence for the previous missense variant, showing it reduces BRD4-occupancy at enhancers it does not affect transcription of the pluripotency network in mouse embryonic stem cells. Rather, it delays the cell cycle, increases DNA damage signalling, and perturbs regulation of DNA repair in mutant cells.

Houzelstein et al. (2002) showed that mice with heterozygous LOF mutations in Brd4 have marked early postnatal mortality, severe prenatal onset growth failure, abnormalities of the craniofacial skeleton and reduced body fat19; all features common in CdLS.
Created: 20 Aug 2021, 12:09 a.m. | Last Modified: 20 Aug 2021, 12:09 a.m.
Panel Version: 0.4071

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cornelia de Lange syndrome

Publications

Created: 20 Aug 2021, 12:09 a.m.
Last Modified: 20 Aug 2021, 12:09 a.m.
Panel version: 0.4071

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

no publications
Created: 1 Apr 2021, 4:35 a.m. | Last Modified: 1 Apr 2021, 4:35 a.m.
Panel Version: 0.3578
Created: 1 Apr 2021, 4:35 a.m.
Last Modified: 1 Apr 2021, 4:35 a.m.
Panel version: 0.3578

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Cornelia de Lange syndrome
OMIM
608749
Clinvar variants
Variants in BRD4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: brd4 has been classified as Green List (High Evidence).

20 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BRD4 were changed from to Cornelia de Lange syndrome

20 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BRD4 were set to

20 Aug 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: BRD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

20 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: brd4 has been classified as Green List (High Evidence).

1 Apr 2021, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: brd4 has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BRD4 was added gene: BRD4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: BRD4 was set to Unknown