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Intellectual disability

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 1 panel

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with any phenotypes in OMIM or Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 18 Dec 2020, 9:44 a.m. | Last Modified: 18 Dec 2020, 9:44 a.m.
Panel Version: 3.653

Zornitza Stark (Australian Genomics)

Green List (high evidence)

12 individuals reported, 11 de novo (1 not resolved), with neurodevelopmental phenotypes—developmental delay (HP:0001263), intellectual disability (HP:0001249), autism spectrum disorder (HP:0000729), and/or behavioral phenotypes (HP:0000708)—and variable structural birth defects and dysmorphic features. Mostly LoF or gene deletions, but 2 missense reported. Zebrafish model supports the gene-disease association.
Sources: Literature
Created: 9 Dec 2020, 8:16 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental delay, intellectual disability, autism spectrum disorder,behavioral abnormalities, dysmorphic features

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Developmental delay, intellectual disability, autism spectrum disorder,behavioral abnormalities, dysmorphic features
Tags
for-review
OMIM
605690
Clinvar variants
Variants in BICRA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

18 Dec 2020, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: BICRA.

9 Dec 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: BICRA was added gene: BICRA was added to Intellectual disability. Sources: Literature 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 Developmental delay, intellectual disability, autism spectrum disorder,behavioral abnormalities, dysmorphic features Review for gene: BICRA was set to GREEN