BCL11B

B-cell CLL/lymphoma 11B
OMIM: 606558, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green BCL11B in COVID-19 research Level 2: Viral research Version 1.141	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green IUIS Classification December 2019 IUIS Classification February 2018 IUIS Classification December 2019 IUIS Classification February 2018 Phenotypes Combined immunodeficiencies with associated or syndromic features leaky SCID ?Immunodeficiency 49, 617237 Immunodeficiencies affecting cellular and humoral immunity Congenital abnormalities, neonatal teeth, dysmorphic facies, absent corpus callosum, neurocognitive deficits
Amber BCL11B in Primary immunodeficiency or monogenic inflammatory bowel disease Version 4.201 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Other Expert Review Amber IUIS Classification December 2019 IUIS Classification February 2018 Phenotypes ?Immunodeficiency 49, 617237 leaky SCID Congenital abnormalities, neonatal teeth, dysmorphic facies, absent corpus callosum, neurocognitive deficits Immunodeficiencies affecting cellular and humoral immunity Combined immunodeficiencies with associated or syndromic features
Green BCL11B in Rare syndromic craniosynostosis or isolated multisuture synostosis Level 3: Craniosynostosis syndromes Level 2: Skeletal disorders Version 4.179 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Expert list Phenotypes Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, OMIM:618092 Craniosynostosis, MONDO:0015469
Green BCL11B in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BCL11B-related developmental disorder (monoallelic)
Green BCL11B in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Intellectual disability Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, 618092
Green BCL11B in Severe Paediatric Disorders Version 1.184	review	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