Activity
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9 actions
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| Primary immunodeficiency or monogenic inflammatory bowel disease v7.26 | EP300 | Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: EP300. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v7.26 | EP300 | Achchuthan Shanmugasundram reviewed gene: EP300: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v7.25 | EP300 |
Achchuthan Shanmugasundram Source NHS GMS was added to EP300. Source Expert Review Green was added to EP300. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v7.21 | EP300 | Arina Puzriakova Phenotypes for gene: EP300 were changed from Rubinstein-Taybi Syndrome; Hypogammaglobulinemia; short stature; Intellectual disability; broad thumbs and first toes; highly arched eyebrows; long eyelashes; downslanting palpebral fissures; convex nasal ridge; low hanging columella; highly arched palate; micrognathia to Rubinstein-Taybi syndrome 2, OMIM:613684 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v7.20 | EP300 | Arina Puzriakova Classified gene: EP300 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v7.20 | EP300 | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. Disruption of the immune system including recurrent and/or severe infections has been reported in a significant proportion (70%) of patients with Rubinstein-Taybi syndrome, supporting inclusion on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v7.20 | EP300 | Arina Puzriakova Gene: ep300 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v7.19 | EP300 | Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: EP300. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.557 | EP300 |
Boaz Palterer gene: EP300 was added gene: EP300 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: EP300 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EP300 were set to 32594341 Phenotypes for gene: EP300 were set to Rubinstein-Taybi Syndrome; Hypogammaglobulinemia; short stature; Intellectual disability; broad thumbs and first toes; highly arched eyebrows; long eyelashes; downslanting palpebral fissures; convex nasal ridge; low hanging columella; highly arched palate; micrognathia Penetrance for gene: EP300 were set to unknown Review for gene: EP300 was set to GREEN Added comment: Saettini et al. reviewed immunological features of Rubinstein-Taybi Syndrome and found: "Recurrent or severe infections, autoimmune/autoinflammatory complications, and lymphoproliferation were observed in 72.1%, 12.3%, and 8.2% of patients. Syndromic immunodeficiency was diagnosed in 46.4% of individuals. Despite the broad heterogeneity of immunodeficiency disorders, antibody defects were observed in 11.3% of subjects. In particular, these patients presented hypogammaglobulinemia associated with low B cell counts and reduction of switched memory B cell numbers. Immunoglobulin replacement therapy, antibiotic prophylaxis, and immunosuppressive treatment were employed in 16.4%, 8.2%, and 9.8% of patients, respectively. ", making it a relevant phenotype for this panel. Sources: Literature |
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