Genes in panel
STRs in panel
Prev Next

Genetic epilepsy syndromes

Gene: BCORL1

Red List (low evidence)

BCORL1 (BCL6 corepressor like 1)
EnsemblGeneIds (GRCh38): ENSG00000085185
EnsemblGeneIds (GRCh37): ENSG00000085185
OMIM: 300688, Gene2Phenotype
BCORL1 is in 3 panels

2 reviews

Helen Lord (Oxford Medical Genetics Laboratories)

Red List (low evidence)

XL SHUVER syndrome. Schuurs-Hoeijmakers et al, 2013 (24123876) - 2 Dutch brothers born of unrelated patients - no seizures - hemizygous missense variant, mum unaff. Shukla et al, 2019 (30941876) - 5 boys from 3 unrelated families. 2 unrelated boys - neither had seizures. Three brothers from an Indian family - more severe phenotype including early onset seizures. All had hemizygous missense variants. Mothers unaff or mildly aff. HGMD Pro -other missense variants listed - associated with autism/schizophrenia.
Created: 5 Sep 2019, 2:22 p.m. | Last Modified: 5 Sep 2019, 2:22 p.m.
Panel Version: 1.261

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

Rebecca Foulger (Genomics England curator)

I don't know

Kept rating as Red based on Red post-Webex review from Helen Lord.
Created: 9 Sep 2019, 10:16 a.m. | Last Modified: 9 Sep 2019, 10:16 a.m.
Panel Version: 1.314
Review and rating collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene was added to the Genetic epilepsy syndromes panel after the initial panel was reviewed by West Midlands, Oxford and Wessex GLH: this gene was therefore reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy.
Created: 5 Sep 2019, 2:26 p.m. | Last Modified: 5 Sep 2019, 2:26 p.m.
Panel Version: 1.262
Added BCORL1 to the Genetic epilepsy syndromes panel as a Red gene based on a 2019 paper by Shukla et al (PMID:30941876) who report 5 males from 3 families with ASD, ID/DD and dysmorphic features. Three siblings (patients 3, 4 and 5) had Seizures (at 1 year, 2 year and 6 months of age, respectively). Patients 1 and 2 did not have seizures but their ID/DD phenotype was less severe than those of the three brothers. Therefore currently only one family and a Red rating.
Sources: Literature
Created: 6 Jun 2019, 10:34 a.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
Intellectual disability and seizures

Publications

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
  • Wessex and West Midlands GLH
  • NHS GMS
  • Literature
Phenotypes
  • Intellectual disability and seizures
  • Shukla-Vernon syndrome, 301029
OMIM
300688
Clinvar variants
Variants in BCORL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Sep 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to BCORL1.

17 Sep 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to BCORL1.

9 Sep 2019, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: BCORL1 were changed from Intellectual disability and seizures to Intellectual disability and seizures; Shukla-Vernon syndrome, 301029

9 Sep 2019, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: BCORL1 were set to 30941876

6 Jun 2019, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: BCORL1 was added gene: BCORL1 was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: BCORL1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: BCORL1 were set to 30941876 Phenotypes for gene: BCORL1 were set to Intellectual disability and seizures