COVID-19 research
Gene: BCL11BKeep Red until more info on gene and disease association. Gene not present on any other PID related panelsCreated: 6 Jul 2018, 9:48 a.m.
Comment on publications: added publication from external expert review to support gene-disease associationCreated: 6 Jul 2018, 9:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
leaky SCID
Publications
Source Expert Review Green was added to BCL11B. Added 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 for gene: BCL11B Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: BCL11B was added gene: BCL11B was added to Viral susceptibility. Sources: Expert Review Red,IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: BCL11B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BCL11B were set to 29296816; 32086639; 32048120; 27959755 Phenotypes for gene: BCL11B were set to 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