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Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 | BCL11B | Eleanor Williams Publications for gene BCL11B were updated from 27959755; 32086639; 29296816; 32048120 to 27959755; 32086639; 29296816; 32048120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 | BCL11B |
Eleanor Williams Source Other was added to BCL11B. Publications for gene BCL11B were updated from 32048120; 27959755; 29296816; 32086639 to 27959755; 32086639; 29296816; 32048120 |
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Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 | BCL11B | Eleanor Williams commented on gene: BCL11B: The following PubMed IDs were added to gene BCL11B (OMIM gene MIM#606558): 27959755. These publications have been associated with the gene by the immunodeficiencies subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.207 | BCL11B | Eleanor Williams edited their review of gene: BCL11B: Added comment: The following PubMed IDs were added to entity BCL11B: 27959755. These publications have been associated with OMIM phenotype MIM#617237, which is listed for this entity, by the immunodeficiencies subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.; Changed publications: 27959755 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.172 | BCL11B | Eleanor Williams Classified gene: BCL11B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.172 | BCL11B | Eleanor Williams Added comment: Comment on list classification: Following review by the Genomics England clinical team it was decided to promote this gene from red to amber pending further cases with an immune deficiency phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.172 | BCL11B | Eleanor Williams Gene: bcl11b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.124 | BCL11B |
Eleanor Williams changed review comment from: Associated with Immunodeficiency 49 #617237 (AD) in OMIM. PMID: 29985992 - Lessel et al 2018 - identified de novo heterozygous germline mutations in BCL11B in nine unrelated patients, namely six frameshift, two nonsense and one missense mutation. A further patient inherited a heterozygous frameshift mutation, p.(Asp534Thrfs*29), transmitted from an affected mother with. All analysed individuals exhibited developmental delay and intellectual disability and a severe reduction of peripheral ILC2s and impaired T cell development, but no overt immune deficiency. Patient E:II-1 was the only patient with suspected immunodeficiency diagnosed upon newborn screening. Other de-novo variants were also detected in some patients. PMID: 27959755 - Punwani et al 2016 - an infant with "leaky" SCID as well as craniofacial and dermal abnormalities and the absence of a corpus callosum. Exome sequencing revealed a heterozygous de novo missense mutation, p.N441K, in BCL11B. The mutant protein had dominant negative activity, which prevented the wild-type BCL11B to bind DNA, thereby arresting development of the T-cell lineage and disrupting hematopoietic stem-cell migration. bcl11ba-deficient zebrafish recapitulated the phenotype.; to: Associated with Immunodeficiency 49 #617237 (AD) in OMIM. PMID: 29985992 - Lessel et al 2018 - identified de novo heterozygous germline mutations in BCL11B in nine unrelated patients, namely six frameshift, two nonsense and one missense mutation. A further patient inherited a heterozygous frameshift mutation, p.(Asp534Thrfs*29), transmitted from an affected mother with. All analysed individuals exhibited developmental delay and intellectual disability and a severe reduction of peripheral ILC2s and impaired T cell development, but no overt immune deficiency. Patient E:II-1, with a missense variant, was the only patient with suspected immunodeficiency diagnosed upon newborn screening. Other de-novo variants were also detected in some patients. PMID: 27959755 - Punwani et al 2016 - an infant with "leaky" SCID as well as craniofacial and dermal abnormalities and the absence of a corpus callosum. Exome sequencing revealed a heterozygous de novo missense mutation, p.N441K, in BCL11B. The mutant protein had dominant negative activity, which prevented the wild-type BCL11B to bind DNA, thereby arresting development of the T-cell lineage and disrupting hematopoietic stem-cell migration. bcl11ba-deficient zebrafish recapitulated the phenotype. |
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Primary immunodeficiency or monogenic inflammatory bowel disease v2.124 | BCL11B | Eleanor Williams commented on gene: BCL11B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.46 | BCL11B | Zornitza Stark reviewed gene: BCL11B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29985992, 27959755; Phenotypes: Immunodeficiency 49, MIM# 617237, Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, MIM# 618092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | BCL11B |
Louise Daugherty Source IUIS Classification December 2019 was added to BCL11B. Added phenotypes Congenital abnormalities, neonatal teeth, dysmorphic facies, absent corpus callosum, neurocognitive deficits; Combined immunodeficiencies with associated or syndromic features for gene: BCL11B Publications for gene BCL11B were updated from 29296816; 27959755 to 32048120; 27959755; 29296816; 32086639 |
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Primary immunodeficiency or monogenic inflammatory bowel disease | BCL11B | Louise Daugherty marked gene: BCL11B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | BCL11B | Louise Daugherty commented on gene: BCL11B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | BCL11B | Louise Daugherty reviewed gene: BCL11B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | BCL11B | Sophie Hambleton reviewed gene: BCL11B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | BCL11B | Louise Daugherty Added gene to panel |