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Severe Paediatric Disorders

Gene: BCL11B

Green List (high evidence)

BCL11B (B-cell CLL/lymphoma 11B)
EnsemblGeneIds (GRCh38): ENSG00000127152
EnsemblGeneIds (GRCh37): ENSG00000127152
OMIM: 606558, Gene2Phenotype
BCL11B is in 4 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: BCL11B; Recommended initial gene rating: Green List (high evidence); Phenotypes: Immunodeficiency 49, 617237 (3) | Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, 618092 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:16 p.m. | Last Modified: 20 Feb 2020, 5:16 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, 618092
  • Immunodeficiency 49, 617237
OMIM
606558
Clinvar variants
Variants in BCL11B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene BCL11B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene BCL11B were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, 618092; Immunodeficiency 49, 617237 for gene: BCL11B

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, 618092; Immunodeficiency 49, 617237 for gene: BCL11B

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, 618092; Immunodeficiency 49, 617237 for gene: BCL11B

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Immunodeficiency 49, 617237; Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, 618092 for gene: BCL11B

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to BCL11B.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to BCL11B. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: BCL11B was added gene: BCL11B was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: BCL11B was set to