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Intellectual disability syndromic and non-syndromic

Gene: BCORL1

Amber List (moderate evidence)

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

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Adding a comment due to recent ClinGen Review

Classified as LIMITED by ClinGen ID and Autism GCEP on 05/03/2024 - https://search.clinicalgenome.org/CCID:004254

The mechanism of disease is still unknown. Affected individuals present with global developmental delay, variably impaired intellectual development and other neurological phenotypes.
Created: 13 May 2024, 12:54 a.m. | Last Modified: 13 May 2024, 12:54 a.m.
Panel Version: 0.5798

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
Shukla-Vernon syndrome MONDO:0026727

Publications

  • https://search.clinicalgenome.org/CCID:004254

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four unrelated families reported altogether; some mothers mildly affected.
Sources: Literature
Created: 11 Dec 2019, 4:22 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
Shukla-Vernon syndrome, MIM#301029

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
  • Expert Review Amber
  • Literature
Phenotypes
  • Shukla-Vernon syndrome, MIM#301029
OMIM
300688
Clinvar variants
Variants in BCORL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 May 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

11 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bcorl1 has been classified as Green List (High Evidence).

11 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bcorl1 has been classified as Green List (High Evidence).

11 Dec 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BCORL1 was added gene: BCORL1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. 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 24123876; 30941876 Phenotypes for gene: BCORL1 were set to Shukla-Vernon syndrome, MIM#301029 Review for gene: BCORL1 was set to GREEN