| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Interstitial Lung Disease v1.2 | ZBTB7B | Zornitza Stark Marked gene: ZBTB7B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Interstitial Lung Disease v1.2 | ZBTB7B | Zornitza Stark Gene: zbtb7b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Interstitial Lung Disease v1.2 | ZBTB7B | Zornitza Stark Phenotypes for gene: ZBTB7B were changed from Combined Immune deficiency; interstitial lung disease; severe atopy to Inborn error of immunity, MONDO:0003778, ZBTB7B-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Interstitial Lung Disease v1.1 | ZBTB7B | Zornitza Stark reviewed gene: ZBTB7B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Inborn error of immunity, MONDO:0003778, ZBTB7B-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Interstitial Lung Disease v1.1 | ZBTB7B | Zornitza Stark Classified gene: ZBTB7B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Interstitial Lung Disease v1.1 | ZBTB7B | Zornitza Stark Gene: zbtb7b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Interstitial Lung Disease v1.0 | ZBTB7B |
Peter McNaughton gene: ZBTB7B was added gene: ZBTB7B was added to Interstitial Lung Disease. Sources: Literature Mode of inheritance for gene: ZBTB7B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZBTB7B were set to PMID: 40392549 Phenotypes for gene: ZBTB7B were set to Combined Immune deficiency; interstitial lung disease; severe atopy Mode of pathogenicity for gene: ZBTB7B was set to Other Review for gene: ZBTB7B was set to AMBER Added comment: Single patient presented with a complex syndromic phenotype including CID, severe atopy, severe fibroinflammatory interstitial lung disease, corneal vascularization and scarring, sensorineural hearing loss, global developmental delay, and growth failure. ThPOKK360N variant is not found in the unaffected individuals; functional investigations indicate that ThPOKK360N exhibits damaging multimorphic effects; and the causal relationship between ThPOKK360N and the clinical phenotype was confirmed through gene transfer experiments in both T cells and pulmonary fibroblasts. ? green based on this strongly supportive data Sources: Literature |
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