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Fetal anomalies

Gene: BICRA

Amber List (moderate evidence)
BICRA (BRD4 interacting chromatin remodeling complex associated protein)
EnsemblGeneIds (GRCh38): ENSG00000063169
EnsemblGeneIds (GRCh37): ENSG00000063169
OMIM: 605690, Gene2Phenotype
BICRA is in 3 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

I don't know

New gene added to this panel with an Amber rating, inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
Created: 5 Sep 2025, 4:41 p.m.
Last Modified: 5 Sep 2025, 4:41 p.m.
Panel version: 6.29

Natalie Chandler (North Thames GLH)

I don't know

This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
Green in ID panel. In coffin siris pathway. PMID 33232675 - 12 individuals 10 LOF, 2 missense. All de novo but one maternal sample unavailable. Less severe phenotype to classic CSS - similar to SMARCD1, SMARCE1, & SMARCA4 (all green). Primarily postnatal phenotype (microcephaly, growth isssues). Dysmorphic: frontal bossing, low set ears, thin upper lip, rounded nasal tip) Congenital anomalies variable - CNS (2/12)/renal (2/12) horshoe kidney/heart (1 tof 1 PFO) / 1 case with cleft. ISPD case with bilateral cleft lip & palate- no other anomalies and normal gorwth with truncating variant, TOP at 23+5 weeks.
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Coffin-Siris syndrome 12

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Coffin-Siris syndrome 12
OMIM
605690
Clinvar variants
Variants in BICRA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Sep 2025, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: BICRA was added gene: BICRA was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: BICRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BICRA were set to 33232675 Phenotypes for gene: BICRA were set to Coffin-Siris syndrome 12