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Cytopenias and congenital anaemias

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

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Somatic variants are associated with aplastic anaemia, as indicated by COSMIC census gene list and PMID: 28107566.
Created: 1 Mar 2017, 2:21 p.m.
Added 'prognosis' and 'treatable' tags: BCOR and BCORL1 mutations have been associated with improved response to immunosuppression, and "favourable" prognosis together with mutations in PIGA - PMID: 28107566.
Created: 1 Mar 2017, 2:18 p.m.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
Unknown

Phenotypes
Acute myeloid leukaemia (AML)

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

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Acute myeloid leukaemia (AML)
  • aquired aplastic anaemia
Tags
treatable somatic prognosis
OMIM
300688
Clinvar variants
Variants in BCORL1
Penetrance
Complete
Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 1

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

1 Mar 2017, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for BCORL1 were set to Acute myeloid leukaemia (AML); aquired aplastic anaemia

1 Mar 2017, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for BCORL1 were set to Acute myeloid leukaemia (AML);aplastic anaemia

1 Mar 2017, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

1 Mar 2017, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

17 Feb 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

BCORL1 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

BCORL1 was created by LouiseD