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Intellectual disability syndromic and non-syndromic

Gene: BICRA

Green List (high evidence)

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

4 reviews

Mark Cleghorn (Royal Melbourne Hospital)

Green List (high evidence)

Update with expanded cohort - presentation at ESHG 2/6/24
Yuwei Shi, Barakat Lab, Erasmus MC, Netherlands

Now 51 patients with heterozygous BICRA variants
inheritance: 38 de novo, 11 unknown, 1 maternal, 1 paternal
variants: 41 LOF, 6 missense/in frame deletion, 2 translocations, 2 splice site
Created: 5 Sep 2024, 12:43 a.m. | Last Modified: 5 Sep 2024, 12:43 a.m.
Panel Version: 0.6123

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Coffin-Siris syndrome-12, MIM#619325

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Coffin-Siris syndrome-12, MIM#619325

Elena Savva (Victorian Clinical Genetics Services)

Comment when marking as ready: 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.
Created: 7 Dec 2020, 4:59 a.m. | Last Modified: 7 Dec 2020, 4:59 a.m.
Panel Version: 0.3248

Paul De Fazio (Victorian Clinical Genetics Services)

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: 7 Dec 2020, 4:51 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Coffin-Siris syndrome-12, MIM#619325
  • Developmental delay, intellectual disability, autism spectrum disorder,behavioral abnormalities, dysmorphic features
OMIM
605690
Clinvar variants
Variants in BICRA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BICRA were changed from Developmental delay, intellectual disability, autism spectrum disorder,behavioral abnormalities, dysmorphic features to Coffin-Siris syndrome-12, MIM#619325; Developmental delay, intellectual disability, autism spectrum disorder,behavioral abnormalities, dysmorphic features

7 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

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

7 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

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

7 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

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

7 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

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

7 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

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

7 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

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

7 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

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

7 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

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

7 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

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

7 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

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

7 Dec 2020, Gel status: 0

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: bicra has been removed from the panel.

7 Dec 2020, Gel status: 0

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

Paul De Fazio (Victorian Clinical Genetics Services)

gene: BICRA was added gene: BICRA was added to Intellectual disability syndromic and non-syndromic. 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 gene: BICRA was marked as current diagnostic