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Primary immunodeficiency or monogenic inflammatory bowel disease v9.87 ZBTB7B Achchuthan Shanmugasundram Phenotypes for gene: ZBTB7B were changed from inborn error of immunity, MONDO:0003778 to inborn error of immunity, MONDO:0003778; interstitial lung disease, MONDO:0015925; Global developmental delay, HP:0001263
Primary immunodeficiency or monogenic inflammatory bowel disease v9.86 ZBTB7B Achchuthan Shanmugasundram edited their review of gene: ZBTB7B: Changed phenotypes to: inborn error of immunity, MONDO:0003778, interstitial lung disease, MONDO:0015925, Global developmental delay, HP:0001263
Primary immunodeficiency or monogenic inflammatory bowel disease v9.86 ZBTB7B Achchuthan Shanmugasundram Classified gene: ZBTB7B as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v9.86 ZBTB7B Achchuthan Shanmugasundram Added comment: Comment on list classification: A single patient case and functional evidence available in support of the association of ZBTB7B gene with inborn error of immunity. Hence, this gene should be rated amber with the current evidence on this panel.
Primary immunodeficiency or monogenic inflammatory bowel disease v9.86 ZBTB7B Achchuthan Shanmugasundram Gene: zbtb7b has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v9.85 ZBTB7B Achchuthan Shanmugasundram Phenotypes for gene: ZBTB7B were changed from CD4+ T-cell deficiency; Allergic disease; Interstitial lung disease; Corneal neovascularization; Corneal scarring; Global developmental delay; Growth failure to inborn error of immunity, MONDO:0003778
Primary immunodeficiency or monogenic inflammatory bowel disease v9.84 ZBTB7B Achchuthan Shanmugasundram Mode of inheritance for gene: ZBTB7B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v9.83 ZBTB7B Achchuthan Shanmugasundram edited their review of gene: ZBTB7B: Changed phenotypes to: inborn error of immunity, MONDO:0003778
Primary immunodeficiency or monogenic inflammatory bowel disease v9.83 ZBTB7B Achchuthan Shanmugasundram reviewed gene: ZBTB7B: Rating: AMBER; Mode of pathogenicity: None; Publications: 40392549; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v9.18 ZBTB7B Boaz Palterer gene: ZBTB7B was added
gene: ZBTB7B was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: ZBTB7B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZBTB7B were set to 40392549
Phenotypes for gene: ZBTB7B were set to CD4+ T-cell deficiency; Allergic disease; Interstitial lung disease; Corneal neovascularization; Corneal scarring; Global developmental delay; Growth failure
Penetrance for gene: ZBTB7B were set to unknown
Review for gene: ZBTB7B was set to RED
Added comment: Vaseghi-Shanjani et al. described 1 patient from 1 kindred, harboring a de novo heterozygous mutation in the ZBTB7B gene encoding ThPOK. They presented with persistent CD4+ T cell deficiency, allergy, interstitial lung disease, corneal vascularization and scarring, developmental delay, and growth failure. The underlying mechanism and phenotype were validated in vitro using lentivirally transduced healthy control T cells and fibroblasts, demonstrating impaired T cell receptor activation and increased profibrotic gene expression. The study did not specify whether the phenotype was successfully recreated with complete knockout (KO) models or if the defect was corrected via rescue experiments.
Sources: Literature