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  2. Severe microcephaly
  3. BRD4
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Severe microcephaly

Gene: BRD4

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

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in Gene2Phenotype (probable) but not OMIM. Based on the available evidence this gene has been given an Amber rating.
Created: 20 Oct 2021, 12:55 p.m. | Last Modified: 20 Oct 2021, 12:55 p.m.
Panel Version: 2.265
Created: 20 Oct 2021, 12:55 p.m.
Last Modified: 20 Oct 2021, 12:55 p.m.
Panel version: 2.265

Zornitza Stark (Australian Genomics)

I don't know

A mixture of evidence from SNVs and CNVs. Note the CNVs are large and only some individuals have documented OFC < -3SD.

PMID: 29379197;
- 4x patients reports however only 3 reported with occipitofrontal circumference of < -3 SD
- 1x microdeletion of 1.04Mb, 1x missense and 1x fs. All de novo

PMID: 30302754
- 1x proband with occipitofrontal circumference 28 cm (−2 SD)
- de novo interstitial deletion involving the short arm of a chromosome 19, 1.97 Mb in size, which included BRD4
Sources: Expert list
Created: 31 Aug 2020, 11:21 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cornelia de Lange-like syndrome

Publications

Created: 31 Aug 2020, 11:21 a.m.

Panel version: 2.19

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Cornelia de Lange syndrome 6, OMIM:620568
Tags
watchlist
OMIM
608749
Clinvar variants
Variants in BRD4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Apr 2024, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: BRD4 were changed from Cornelia de Lange-like syndrome, MONDO:0016033 to Cornelia de Lange syndrome 6, OMIM:620568

20 Oct 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: BRD4 were changed from Cornelia de Lange-like syndrome to Cornelia de Lange-like syndrome, MONDO:0016033

20 Oct 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: brd4 has been classified as Amber List (Moderate Evidence).

20 Oct 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist tag was added to gene: BRD4.

31 Aug 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: BRD4 was added gene: BRD4 was added to Severe microcephaly. 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 29379197; 30302754 Phenotypes for gene: BRD4 were set to Cornelia de Lange-like syndrome Review for gene: BRD4 was set to AMBER