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Primary immunodeficiency or monogenic inflammatory bowel disease v3.6 | TLN1 |
Achchuthan Shanmugasundram changed review comment from: PMID:35861643 reported a 20-year old man of Mexican ancestry with a complex phenotype including thrombocytopenia, T lymphopenia, and low IgG levels. The patient had an absolute lymphocyte counts <1000/mcL and low absolute T-cells. Recent B-cell subset analysis revealed 96% naïve and 4% switched memory B-cells and initial serum immunoglobulin levels at six years of age included: IgG 273, IgA 130, IgM 36. Because of poor antibody responses to pneumococcal vaccine, he was started on immunoglobulin replacement therapy, which he has continued to the present. He continued to experienced intermittent sinusitis, otitis media and bronchitis since 10 years of age, which cleared with oral antibiotics. At 18 years of age, he had abdominal pain at times that was diagnosed as small intestinal bacterial overgrowth, headaches often treated as migraines, and joint pain with limited signs of active arthritis. He was identified with a de novo heterozygous variant c.685C > T (p.Pro 229 Ser) that was not present in his parents. Sources: Literature; to: PMID:35861643 reported a 20-year old man of Mexican ancestry with a complex phenotype including thrombocytopenia, T lymphopenia, and low IgG levels. The patient had an absolute lymphocyte count of <1000/mcL and low absolute T-cells. Recent B-cell subset analysis revealed 96% naïve and 4% switched memory B-cells and initial serum immunoglobulin levels at six years of age included: IgG 273, IgA 130, IgM 36. Because of poor antibody responses to pneumococcal vaccine, he was started on immunoglobulin replacement therapy, which he has continued to the present. He continued to experienced intermittent sinusitis, otitis media and bronchitis since 10 years of age, which cleared with oral antibiotics. At 18 years of age, he had abdominal pain at times that was diagnosed as small intestinal bacterial overgrowth, headaches often treated as migraines, and joint pain with limited signs of active arthritis. He was identified with a de novo heterozygous variant c.685C > T (p.Pro 229 Ser) that was not present in his parents. Sources: Literature |
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Primary immunodeficiency or monogenic inflammatory bowel disease v3.6 | TLN1 |
Achchuthan Shanmugasundram gene: TLN1 was added gene: TLN1 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: TLN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TLN1 were set to 35861643 Phenotypes for gene: TLN1 were set to lymphopenia, MONDO:0003783 Review for gene: TLN1 was set to RED Added comment: PMID:35861643 reported a 20-year old man of Mexican ancestry with a complex phenotype including thrombocytopenia, T lymphopenia, and low IgG levels. The patient had an absolute lymphocyte counts <1000/mcL and low absolute T-cells. Recent B-cell subset analysis revealed 96% naïve and 4% switched memory B-cells and initial serum immunoglobulin levels at six years of age included: IgG 273, IgA 130, IgM 36. Because of poor antibody responses to pneumococcal vaccine, he was started on immunoglobulin replacement therapy, which he has continued to the present. He continued to experienced intermittent sinusitis, otitis media and bronchitis since 10 years of age, which cleared with oral antibiotics. At 18 years of age, he had abdominal pain at times that was diagnosed as small intestinal bacterial overgrowth, headaches often treated as migraines, and joint pain with limited signs of active arthritis. He was identified with a de novo heterozygous variant c.685C > T (p.Pro 229 Ser) that was not present in his parents. Sources: Literature |
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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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Primary immunodeficiency or monogenic inflammatory bowel disease v2.557 | CREBBP |
Boaz Palterer gene: CREBBP was added gene: CREBBP was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CREBBP were set to 32594341 Phenotypes for gene: CREBBP 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: CREBBP were set to unknown Review for gene: CREBBP 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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Primary immunodeficiency or monogenic inflammatory bowel disease v2.266 | ITCH | Eleanor Williams Classified gene: ITCH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.266 | ITCH | Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.266 | ITCH | Eleanor Williams Gene: itch has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 | ITCH |
Eleanor Williams Source Other was added to ITCH. Publications for gene ITCH were updated from 20170897; 26854353; 19592251; 20962770; 27322655 to 30705142; 20962770; 26854353; 20170897; 19592251; 27322655 Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 | ITCH | Eleanor Williams reviewed gene: ITCH: Rating: ; Mode of pathogenicity: ; Publications: 30705142, 20170897; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 | REL | Zornitza Stark reviewed gene: REL: Rating: RED; Mode of pathogenicity: None; Publications: 31103457; Phenotypes: Combined immunodeficiency, T cells: normal, decreased memory CD4, poor proliferation, B cells: low, mostly naive, few switched memory B cells, impaired proliferation, Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms, Defective innate immunity; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 | ITCH | Louise Daugherty commented on gene: ITCH: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 | ITCH | Louise Daugherty commented on gene: ITCH: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 | ITCH | Kimberly Gilmour reviewed gene: ITCH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 | ITCH | Tracy Briggs reviewed gene: ITCH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 | ITCH | Louise Daugherty Source NHS GMS was added to ITCH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 | ITCH | Louise Daugherty Source North West GLH was added to ITCH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 | ITCH | Louise Daugherty Source London North GLH was added to ITCH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ITCH | Louise Daugherty commented on gene: ITCH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ITCH | Louise Daugherty edited their review of gene: ITCH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ITCH | Louise Daugherty marked gene: ITCH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ITCH | Louise Daugherty classified ITCH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ITCH | Louise Daugherty commented on gene: ITCH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ITCH | Louise Daugherty commented on gene: ITCH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ITCH | Sophie Hambleton reviewed gene: ITCH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ITCH | Louise Daugherty commented on ITCH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ITCH | Louise Daugherty commented on ITCH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ITCH | Louise Daugherty commented on ITCH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ITCH | Louise Daugherty reviewed ITCH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ITCH | Louise Daugherty Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ITCH | Louise Daugherty Added gene to panel |