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Intellectual disability
Gene: BCORL1

BCORL1 (BCL6 corepressor like 1)
EnsemblGeneIds (GRCh38): ENSG00000085185
EnsemblGeneIds (GRCh37): ENSG00000085185
OMIM: 300688, Gene2Phenotype
BCORL1 is in 4 panels

7 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Kept rating Amber in line with the previous review by Rebecca Foulger. Severe ID only exhibited by 2/4 families. No additional papers recently published.
Created: 13 Oct 2020, 9:29 a.m. | Last Modified: 13 Oct 2020, 9:29 a.m.

Panel Version: 3.430

Created: 13 Oct 2020, 9:29 a.m.
Last Modified: 13 Oct 2020, 9:29 a.m.
Panel version: 3.430

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Four unrelated families reported with variable ID, now has OMIM#, and original variant no longer listed as VOUS.
Created: 29 Jan 2020, 10:25 a.m. | Last Modified: 29 Jan 2020, 10:25 a.m.

Panel Version: 3.0

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Shukla-Vernon syndrome, MIM# 301029

Publications

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

Created: 29 Jan 2020, 10:25 a.m.
Last Modified: 29 Jan 2020, 10:25 a.m.
Panel version: 3.0

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Red to Amber based on external review by Konstantinos Varvagiannis and the new paper Shukla et al., 2019 (PMID:30941876). The original Asn820Ser variant from Schuurs-Hoeijmakers et al., 2013 (PMID:24123876) is still listed as a VUS in OMIM due to a lack of evidence for association with the ID phenotype. Although Shukla et al report 3 cases with 3 new BCORL1 variants (two unrelated males and a further three brothers), patient 2 does not have ID, but instead has typical early motor milestones, and speech delay. ID is also mild in Patient 1. Based on 2 clear cases plus 1 potential case from Shukla et al,. I have rated Amber and added a 'watchlist' tag awaiting further reports.
Created: 6 Jun 2019, 10:27 a.m.

Created: 6 Jun 2019, 10:27 a.m.

Panel version: 2.857

Konstantinos Varvagiannis (Other)

I don't know

This gene may be considered for upgrade probably to amber (or green).

Schuurs-Hoeijmakers et al. (2013 - PMID: 24123876) reported briefly on 2 males with hypotonia, severe ID and similar facial features. Both harbored a BCORL1 missense variant (NM_021946.4:c.2459A>G or p.Asn820Ser) inherited from their (probably) unaffected mother (X-linked gene). The authors comment that BCORL1 encodes a transcriptional corepressor interacting with class II histone acetyltransferases and deacetylases and appears to be expressed in brain/neuronal tissue.

Shukla et al. (2019 - PMID: 30941876) report on 5 males from 3 families with DD, ID (4/5 - in 1 individual mild, in 3 further sibs severe), ASD (5/5) or additional behavioral abnormalities and/or some other possibly overlapping features. All individuals were found to be hemizygous for BCORL1 missense variants (in all cases inherited). The following variants were reported : c.2345T>A or p.Val782Glu, c.1487C>T or p.Ser496Phe and c.95C>T or p.Pro32Leu (NM_021946.4). The mother of one subject (with mild ID) had some degree of learning disabilities, anxiety and ADHD. One individual without apparent ID had inherited the variant from his mother who had normal educational attainment.

There are no functional studies (or X-inactivation studies in females) performed in any of these articles.

BCORL1 is not associated with any phenotype in OMIM/G2P. The gene is included in gene panels for intellectual disability offered by several diagnostic laboratories (incl. Radboud UMC).
Created: 14 Apr 2019, 6:07 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Global developmental delay; Intellectual disability; Autism; Behavioral abnormality

Publications

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

Created: 14 Apr 2019, 6:07 p.m.

Panel version: 2.800

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Not associated with phenotype in OMIM or G2P. One variant reported as a heterozygote in two brothers with severe intellectual disability, however also present in unaffected mother, therefore classes as a VUS
Created: 15 Dec 2017, 9:38 a.m.

Mode of inheritance
Unknown

Publications

Created: 15 Dec 2017, 9:38 a.m.

Panel version: Imported from Intellectual disability update Dec 2017 panel version 0.13

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Lu Raymond (university of cambridge )

Red List (low evidence)

Created: 23 Feb 2016, 11:15 a.m.

Panel version: 0.306

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sources

Expert Review Amber

Phenotypes

Shukla-Vernon syndrome, 301029

Tags

watchlist

OMIM

300688

Clinvar variants

Variants in BCORL1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

13 Oct 2020, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: BCORL1 were changed from Intellectual disability, developmental delay and dysmorphism; Behavioral abnormality to Shukla-Vernon syndrome, 301029

13 Oct 2020, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: BCORL1 were set to 24123876; 24896178; 26350204; 30941876

13 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: bcorl1 has been classified as Amber List (Moderate Evidence).

6 Jun 2019, Gel status: 2