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Fetal anomalies

Gene: BRD4

Green List (high evidence)

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

1 review

Chirag Patel (Genetic Health Queensland)

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, prenatal onset growth retardation, and developmental delay. About 1% of patients have mutations in the BRD4 gene. % patients reported with functional evidence.
Sources: Expert list
Created: 24 Feb 2022, 4:13 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cornelia de Lange syndrome (no OMIM# yet)

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cornelia de Lange syndrome, MONDO:0016033
OMIM
608749
Clinvar variants
Variants in BRD4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Feb 2022, 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).

24 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BRD4 were changed from Cornelia de Lange syndrome (no OMIM# yet) to Cornelia de Lange syndrome, MONDO:0016033

24 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BRD4 were set to PMID: 29379197, 30302754, 11997514, 34035299

24 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

24 Feb 2022, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: BRD4 was added gene: BRD4 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: BRD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BRD4 were set to PMID: 29379197, 30302754, 11997514, 34035299 Phenotypes for gene: BRD4 were set to Cornelia de Lange syndrome (no OMIM# yet) Review for gene: BRD4 was set to GREEN