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  3. BCORL1
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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 4 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.
Created: 1 Mar 2017, 2:18 p.m.

Panel version: 0.250

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

Created: 16 Jan 2017, 3:45 p.m.

Panel version: Imported from "Anaemias and red cell disorders" panel version 0.9

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