Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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12 actions
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| Disorders of immune dysregulation v0.192 | CD274 | Zornitza Stark Marked gene: CD274 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.192 | CD274 | Zornitza Stark Gene: cd274 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.192 | CD274 | Zornitza Stark Phenotypes for gene: CD274 were changed from Immune dysregulation to Immune dysregulation, autoimmunity and auto inflammation, MONDO:0957790 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.191 | CD274 | Zornitza Stark Classified gene: CD274 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.191 | CD274 | Zornitza Stark Gene: cd274 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.190 | CD274 | Zornitza Stark reviewed gene: CD274: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Immune dysregulation, autoimmunity and auto inflammation, MONDO:0957790; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.186 | CD274 |
Peter McNaughton gene: CD274 was added gene: CD274 was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: CD274 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CD274 were set to PMID: 38634869 Phenotypes for gene: CD274 were set to Immune dysregulation Review for gene: CD274 was set to AMBER Added comment: Two siblings, born to second-degree consanguineous parents of Moroccan descent, both developed neonatal-onset T1D (diagnosed at the ages of 1 day and 7 wk, respectively). One sibling was subsequently diagnosed with asthma at the age of 5 mo, auto-immune hypothyroidism at the age of 3 years, and growth hormone (GH) deficiency at the age of 10 years. He also had mild intellectual disability with delayed language development. By contrast, his sister had no clinical manifestations other than T1D. Sources: Literature |
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| Disorders of immune dysregulation v0.37 | CD27 | Zornitza Stark Marked gene: CD27 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.37 | CD27 | Zornitza Stark Gene: cd27 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.37 | CD27 | Zornitza Stark Classified gene: CD27 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.37 | CD27 | Zornitza Stark Gene: cd27 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.36 | CD27 |
Zornitza Stark gene: CD27 was added gene: CD27 was added to Disorders of immune dysregulation. Sources: Expert list Mode of inheritance for gene: CD27 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CD27 were set to 22801960; 22197273 Phenotypes for gene: CD27 were set to Lymphoproliferative syndrome 2, MIM# 615122 Review for gene: CD27 was set to GREEN Added comment: At least four families reported. Sources: Expert list |
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