Activity
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| Primary immunodeficiency or monogenic inflammatory bowel disease v9.18 | CFH |
Ida Ertmanska changed review comment from: PMID: 36211394 Gouda et al., 2022 Egyptian cohort of 40 patients with LN, lupus nephritis (23) or PIGN, post-infectious glomerulonephritis (17), tested for genetic variants in CFH and CD46 genes. VUS CFH:p.F614S variant was found in 28 (70%) of patients: 17 (74%) of LN patients, and 11 (65%) of PIGN patients. 3 Pathogenic CFH mutations were detected in a heterozygous state in LN patients: c.514C>T (p.Q172*), c.2103G>A (p.W701*), and c.3288G>A (p.W1096*). PMID: 35084692 Shears et al., 2022 Forty patients, median age 19 (range 3–62) years, were identified with terminal complement deficiencies. 2 White European patients had CFH variants and meningococcal infections and septicemia; 1 patient had non-meningococcal sepsis. Both were homozygous for CFH c.2T>C, p.Met1? variant (related?). PMID: 32064578 Brodszki et al., 2020 "Complement deficiencies account for ~5% of PIDs." <30 patients reported with CFH variants according to the lit review. PMID: 31440263 Sissy et al., 2019 13 patients reported with 7 different homozygous CFH variants and Factor H deficiency (primarily resulting in severe or multiple infections—mainly meningococcal infections—or severe autoimmune diseases). However, in this cohort, all 13 patients with CFH variants presented with kidney disease and no recurrent infections. PMID: 14978182 Dragon-Durey et al., 2004 Reported are 16 FH-deficient patients. Among six patients with homozygous deficiency, four presented with membranoproliferative glomerulonephritis, and two with atypical hemolytic uremic syndrome (HUS). The ten other patients had heterozygous FH deficiency and developed atypical HUS. No mention of recurring infections in these patients - authors pose that previously reported susceptibility to meningococcal disease is secondary to acquired C3 or C5-C9 deficiencies. Functional: PMID: 12091909 Pickering et al., 2002 - mouse Cfh knockout caused membranoproliferative glomerulonephritis, seen at 8 months old. CFH is associated with AD,AR Complement factor H deficiency, OMIM:609814 and AD, AR {Hemolytic uremic syndrome, atypical, susceptibility to, 1}, OMIM:235400, among others (OMIM accessed 22nd Jun 2026). The association between CFH and semidominant atypical hemolytic-uremic syndrome is Definitive in ClinGen (Complement-Mediated Kidney Diseases GCEP, July 2023); CFH-related AR C3 glomerulonephritis is also Definitive (Complement-Mediated Kidney Diseases GCEP, Feb 2024).; to: PMID: 36211394 Gouda et al., 2022 Egyptian cohort of 40 patients with LN, lupus nephritis (23) or PIGN, post-infectious glomerulonephritis (17), tested for genetic variants in CFH and CD46 genes. VUS CFH:p.F614S variant was found in 28 (70%) of patients: 17 (74%) of LN patients, and 11 (65%) of PIGN patients. 3 Pathogenic CFH mutations were detected in a heterozygous state in LN patients: c.514C>T (p.Q172*), c.2103G>A (p.W701*), and c.3288G>A (p.W1096*). PMID: 35084692 Shears et al., 2022 Forty patients, median age 19 (range 3–62) years, were identified with terminal complement deficiencies. 2 White European patients had CFH variants and meningococcal infections and septicemia; 1 of these patients also had non-meningococcal sepsis. Both were homozygous for CFH c.2T>C, p.Met1? variant (related?). PMID: 32064578 Brodszki et al., 2020 "Complement deficiencies account for ~5% of PIDs." <30 patients reported with CFH variants according to the lit review. PMID: 31440263 Sissy et al., 2019 13 patients reported with 7 different homozygous CFH variants and Factor H deficiency (primarily resulting in severe or multiple infections—mainly meningococcal infections—or severe autoimmune diseases). However, in this cohort, all 13 patients with CFH variants presented with kidney disease and no recurrent infections. PMID: 14978182 Dragon-Durey et al., 2004 Reported are 16 FH-deficient patients. Among six patients with homozygous deficiency, four presented with membranoproliferative glomerulonephritis, and two with atypical hemolytic uremic syndrome (HUS). The ten other patients had heterozygous FH deficiency and developed atypical HUS. No mention of recurring infections in these patients - authors pose that previously reported susceptibility to meningococcal disease is secondary to acquired C3 or C5-C9 deficiencies. Functional: PMID: 12091909 Pickering et al., 2002 - mouse Cfh knockout caused membranoproliferative glomerulonephritis, seen at 8 months old. CFH is associated with AD,AR Complement factor H deficiency, OMIM:609814 and AD, AR {Hemolytic uremic syndrome, atypical, susceptibility to, 1}, OMIM:235400, among others (OMIM accessed 22nd Jun 2026). The association between CFH and semidominant atypical hemolytic-uremic syndrome is Definitive in ClinGen (Complement-Mediated Kidney Diseases GCEP, July 2023); CFH-related AR C3 glomerulonephritis is also Definitive (Complement-Mediated Kidney Diseases GCEP, Feb 2024). |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v9.18 | CFH | Ida Ertmanska Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v9.18 | CFH | Ida Ertmanska changed review comment from: Comment on list classification: There are numerous patients reported with both monoallelic and biallelic CFH variants and renal disease (aHUS, MPGN). However, there is little evidence of patients with FH deficiency having primary immunodeficiency. Of more than 30 patients summarised below, only two were reported to have recurrent (meningococcal) infections - this is posed to be secondary to acquired deficiency of other complements (PMID: 14978182). Hence, this gene is tagged for demotion from Green to Amber, with expert review also requested.; to: Comment on list classification: There are numerous patients reported with both monoallelic and biallelic CFH variants and renal disease (aHUS, MPGN). However, there is little evidence of patients with FH deficiency having primary immunodeficiency. Of more than 30 patients summarised below, only two were reported to have recurrent (meningococcal) infections - this is posed to be secondary to acquired deficiency of other complements (PMID: 14978182). Hence, this gene will be tagged for demotion from Green to Amber, with expert review also requested. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v9.18 | CFH |
Ida Ertmanska Tag Q2_26_expert_review was removed from gene: CFH. Tag Q2_26_demote_amber was removed from gene: CFH. |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v9.15 | CFH | Achchuthan Shanmugasundram Tag Q2_26_expert_review tag was added to gene: CFH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v9.11 | CFH | Ida Ertmanska changed review comment from: Comment on list classification: There are numerous patients reported with both monoallelic and biallelic CFH variants and renal disease (aHUS, MPGN). However, there is little evidence of patients with FH deficiency having primary immunodeficiency. Of more than 30 patients summarised below, only two were reported to have recurrent (meningococcal) infections - this is posed to be secondary to acquired deficiency of other complements (PMID: 14978182). Hence, this gene is tagged for demotion from Green to Amber, with expert review also requested.; to: Comment on list classification: There are numerous patients reported with both monoallelic and biallelic CFH variants and renal disease (aHUS, MPGN). However, there is little evidence of patients with FH deficiency having primary immunodeficiency. Of more than 30 patients summarised below, only two were reported to have recurrent (meningococcal) infections - this is posed to be secondary to acquired deficiency of other complements (PMID: 14978182). Hence, this gene is tagged for demotion from Green to Amber, with expert review also requested. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v9.11 | CFH | Ida Ertmanska changed review comment from: Comment on list classification: There are numerous patients reported with both monoallelic and biallelic CFH variants and renal disease (aHUS, MPGN). However, there is little evidence of patients with FH deficiency having primary immunodeficiency. Of more than 30 patients summarised below, only two were reported to have meningococcal infections - this is posed to be secondary to acquired deficiency of other complements (PMID: 14978182). Hence, this gene is tagged for demotion from Green to Amber, with expert review also requested.; to: Comment on list classification: There are numerous patients reported with both monoallelic and biallelic CFH variants and renal disease (aHUS, MPGN). However, there is little evidence of patients with FH deficiency having primary immunodeficiency. Of more than 30 patients summarised below, only two were reported to have recurrent (meningococcal) infections - this is posed to be secondary to acquired deficiency of other complements (PMID: 14978182). Hence, this gene is tagged for demotion from Green to Amber, with expert review also requested. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v9.11 | CFH | Ida Ertmanska commented on gene: CFH: Comment on list classification: There are numerous patients reported with both monoallelic and biallelic CFH variants and renal disease (aHUS, MPGN). However, there is little evidence of patients with FH deficiency having primary immunodeficiency. Of more than 30 patients summarised below, only two were reported to have meningococcal infections - this is posed to be secondary to acquired deficiency of other complements (PMID: 14978182). Hence, this gene is tagged for demotion from Green to Amber, with expert review also requested. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v9.11 | CFH | Ida Ertmanska Phenotypes for gene: CFH were changed from Complement factor H deficiency, 609814; Infections, disseminated neisserial infections, atypical Hemolytic-uremic syndrome, preeclampsia, dense deposit disease; Complement Deficiencies to Complement factor H deficiency, OMIM:609814; {Hemolytic uremic syndrome, atypical, susceptibility to, 1}, OMIM:235400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v9.10 | CFH | Ida Ertmanska Publications for gene: CFH were set to 7742208; 9312129; 10803850; 2966809; 14978182; 16612335; 1701856; 24722444 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v9.9 | CFH | Ida Ertmanska Tag Q2_26_demote_amber tag was added to gene: CFH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v9.9 | CFH | Ida Ertmanska edited their review of gene: CFH: Changed rating: AMBER; Changed publications to: 12091909, 14978182, 31440263, 32064578, 35084692, 36211394 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v9.9 | CFH |
Ida Ertmanska changed review comment from: PMID: 36211394 Gouda et al., 2022 Egyptian cohort of 40 patients with LN, lupus nephritis (23) or PIGN, post-infectious glomerulonephritis (17), tested for genetic variants in CFH and CD46 genes. VUS CFH:p.F614S variant was found in 28 (70%) of patients: 17 (74%) of LN patients, and 11 (65%) of PIGN patients. 3 Pathogenic CFH mutations were detected in a heterozygous state in LN patients: c.514C>T (p.Q172*), c.2103G>A (p.W701*), and c.3288G>A (p.W1096*). PMID: 35084692 Shears et al., 2022 Forty patients, median age 19 (range 3–62) years, were identified with terminal complement deficiencies. 2 White European patients had CFH variants and meningococcal infections and septicemia; 1 patient had non-meningococcal sepsis. Both were homozygous for CFH c.2T>C, p.Met1? variant (related?). PMID: 32064578 Brodszki et al., 2020 "Complement deficiencies account for ~5% of PIDs." <30 patients reported with CFH variants according to the lit review. PMID: 31440263 Sissy et al., 2019 13 patients reported with 7 different homozygous CFH variants and Factor H deficiency (primarily resulting in severe or multiple infections—mainly meningococcal infections—or severe autoimmune diseases). However, in this cohort, all 13 patients with CFH variants presented with kidney disease and no recurrent infections. PMID: 14978182 Dragon-Durey et al., 2004 Reported are 16 FH-deficient patients. Among six patients with homozygous deficiency, four presented with membranoproliferative glomerulonephritis, and two with atypical hemolytic uremic syndrome (HUS). The ten other patients had heterozygous FH deficiency and developed atypical HUS. CFH is associated with AD,AR Complement factor H deficiency, OMIM:609814 and AD, AR {Hemolytic uremic syndrome, atypical, susceptibility to, 1}, OMIM:235400, among others (OMIM accessed 22nd Jun 2026). The association between CFH and semidominant atypical hemolytic-uremic syndrome is Definitive in ClinGen (Complement-Mediated Kidney Diseases GCEP, July 2023); CFH-related AR C3 glomerulonephritis is also Definitive (Complement-Mediated Kidney Diseases GCEP, Feb 2024).; to: PMID: 36211394 Gouda et al., 2022 Egyptian cohort of 40 patients with LN, lupus nephritis (23) or PIGN, post-infectious glomerulonephritis (17), tested for genetic variants in CFH and CD46 genes. VUS CFH:p.F614S variant was found in 28 (70%) of patients: 17 (74%) of LN patients, and 11 (65%) of PIGN patients. 3 Pathogenic CFH mutations were detected in a heterozygous state in LN patients: c.514C>T (p.Q172*), c.2103G>A (p.W701*), and c.3288G>A (p.W1096*). PMID: 35084692 Shears et al., 2022 Forty patients, median age 19 (range 3–62) years, were identified with terminal complement deficiencies. 2 White European patients had CFH variants and meningococcal infections and septicemia; 1 patient had non-meningococcal sepsis. Both were homozygous for CFH c.2T>C, p.Met1? variant (related?). PMID: 32064578 Brodszki et al., 2020 "Complement deficiencies account for ~5% of PIDs." <30 patients reported with CFH variants according to the lit review. PMID: 31440263 Sissy et al., 2019 13 patients reported with 7 different homozygous CFH variants and Factor H deficiency (primarily resulting in severe or multiple infections—mainly meningococcal infections—or severe autoimmune diseases). However, in this cohort, all 13 patients with CFH variants presented with kidney disease and no recurrent infections. PMID: 14978182 Dragon-Durey et al., 2004 Reported are 16 FH-deficient patients. Among six patients with homozygous deficiency, four presented with membranoproliferative glomerulonephritis, and two with atypical hemolytic uremic syndrome (HUS). The ten other patients had heterozygous FH deficiency and developed atypical HUS. No mention of recurring infections in these patients - authors pose that previously reported susceptibility to meningococcal disease is secondary to acquired C3 or C5-C9 deficiencies. Functional: PMID: 12091909 Pickering et al., 2002 - mouse Cfh knockout caused membranoproliferative glomerulonephritis, seen at 8 months old. CFH is associated with AD,AR Complement factor H deficiency, OMIM:609814 and AD, AR {Hemolytic uremic syndrome, atypical, susceptibility to, 1}, OMIM:235400, among others (OMIM accessed 22nd Jun 2026). The association between CFH and semidominant atypical hemolytic-uremic syndrome is Definitive in ClinGen (Complement-Mediated Kidney Diseases GCEP, July 2023); CFH-related AR C3 glomerulonephritis is also Definitive (Complement-Mediated Kidney Diseases GCEP, Feb 2024). |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v9.9 | CFH | Ida Ertmanska edited their review of gene: CFH: Changed rating: GREEN; Changed publications to: 14978182, 31440263, 32064578, 35084692, 36211394; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v9.9 | CFH | Ida Ertmanska reviewed gene: CFH: Rating: ; Mode of pathogenicity: None; Publications: 31440263, 35084692, 36211394; Phenotypes: Complement factor H deficiency, OMIM:609814, {Hemolytic uremic syndrome, atypical, susceptibility to, 1}, OMIM:235400; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.572 | CFHR5 | Arina Puzriakova commented on gene: CFHR5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.572 | CFHR4 | Arina Puzriakova commented on gene: CFHR4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.572 | CFHR3 | Arina Puzriakova commented on gene: CFHR3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.572 | CFHR1 | Arina Puzriakova commented on gene: CFHR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.571 | CFHR5 |
Arina Puzriakova Source Expert Review Red was added to CFHR5. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.571 | CFHR4 |
Arina Puzriakova Source Expert Review Red was added to CFHR4. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.571 | CFHR3 |
Arina Puzriakova Source Expert Review Red was added to CFHR3. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.571 | CFHR1 |
Arina Puzriakova Source Expert Review Red was added to CFHR1. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.555 | CFHR5 | Dmitrijs Rots reviewed gene: CFHR5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.555 | CFHR4 | Dmitrijs Rots reviewed gene: CFHR4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.555 | CFHR1 | Dmitrijs Rots reviewed gene: CFHR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.555 | CFHR3 | Dmitrijs Rots reviewed gene: CFHR3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | CFHR5 |
Louise Daugherty Source IUIS Classification December 2019 was added to CFHR5. Added phenotypes Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections for gene: CFHR5 Publications for gene CFHR5 were updated from 20800271; 22503529; 28673452 to 32048120; 28673452; 20800271; 22503529; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | CFHR4 |
Louise Daugherty Source IUIS Classification December 2019 was added to CFHR4. Mode of inheritance for gene CFHR4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections for gene: CFHR4 Publications for gene CFHR4 were updated from to 32048120; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | CFHR3 |
Louise Daugherty Source IUIS Classification December 2019 was added to CFHR3. Added phenotypes Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections for gene: CFHR3 Publications for gene CFHR3 were updated from to 32048120; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | CFHR2 |
Louise Daugherty Source IUIS Classification December 2019 was added to CFHR2. Mode of inheritance for gene CFHR2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections for gene: CFHR2 Publications for gene CFHR2 were updated from to 32048120; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | CFHR1 |
Louise Daugherty Source IUIS Classification December 2019 was added to CFHR1. Added phenotypes Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections for gene: CFHR1 Publications for gene CFHR1 were updated from to 32048120; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 | CFHR5 | Louise Daugherty commented on gene: CFHR5: Glomerulonephritis with C3 deposits (green re association - ?phenotype) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v1.116 | CFHR5 | Louise Daugherty commented on gene: CFHR5: 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 only enough evidence to rate this gene Amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v1.116 | CFHR5 | Louise Daugherty commented on gene: CFHR5: 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 only enough evidence to rate this gene Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v1.115 | CFHR5 | Kimberly Gilmour reviewed gene: CFHR5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v1.114 | CFHR5 | Tracy Briggs reviewed gene: CFHR5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 | CFH | Louise Daugherty commented on gene: CFH: 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 | CFH | Louise Daugherty commented on gene: CFH: 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 | CFH | Kimberly Gilmour reviewed gene: CFH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 | CFH | Tracy Briggs reviewed gene: CFH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 | CFHR5 | Louise Daugherty ERCC3 was changed to CFHR5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v1.63 | CFHR5 | Louise Daugherty Source North West GLH was added to CFHR5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v1.62 | CFHR5 | Louise Daugherty Source London North GLH was added to CFHR5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v1.61 | CFHR5 | Louise Daugherty Source NHS GMS was added to CFHR5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 | CFH | Louise Daugherty Source NHS GMS was added to CFH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 | CFH | Louise Daugherty Source North West GLH was added to CFH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 | CFH | Louise Daugherty Source London North GLH was added to CFH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v1.36 | CFHR5 | Louise Daugherty Mode of inheritance for gene: CFHR5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFHR5 | Louise Daugherty commented on gene: CFHR5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFHR5 | Louise Daugherty commented on gene: CFHR5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFHR4 | Louise Daugherty commented on gene: CFHR4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFHR3 | Louise Daugherty commented on gene: CFHR3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFHR1 | Louise Daugherty commented on gene: CFHR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFHR5 | Louise Daugherty commented on gene: CFHR5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFHR4 | Louise Daugherty commented on gene: CFHR4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFHR3 | Louise Daugherty commented on gene: CFHR3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFHR2 | Louise Daugherty commented on gene: CFHR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFHR1 | Louise Daugherty commented on gene: CFHR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFH | Louise Daugherty commented on gene: CFH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFHR5 | Sophie Hambleton commented on gene: CFHR5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFHR5 | Sophie Hambleton reviewed gene: CFHR5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFHR4 | Sophie Hambleton reviewed gene: CFHR4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFHR3 | Sophie Hambleton reviewed gene: CFHR3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFHR1 | Sophie Hambleton reviewed gene: CFHR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFHR1 | Sophie Hambleton reviewed gene: CFHR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFHR5 | Louise Daugherty marked gene: CFHR5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFHR4 | Louise Daugherty marked gene: CFHR4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFHR3 | Louise Daugherty marked gene: CFHR3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFHR1 | Louise Daugherty marked gene: CFHR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFH | Louise Daugherty edited their review of gene: CFH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFH | Louise Daugherty marked gene: CFH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFHR2 | Louise Daugherty marked gene: CFHR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFHR2 | Louise Daugherty commented on gene: CFHR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFHR2 | Sophie Hambleton reviewed gene: CFHR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFH | Sophie Hambleton reviewed gene: CFH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFH | Louise Daugherty classified CFH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFH | Louise Daugherty commented on gene: CFH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFHR5 | Louise Daugherty commented on gene: CFHR5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFHR4 | Louise Daugherty commented on gene: CFHR4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFHR3 | Louise Daugherty commented on gene: CFHR3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFHR1 | Louise Daugherty commented on gene: CFHR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFHR1 | Louise Daugherty commented on gene: CFHR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFHR3 | Louise Daugherty commented on gene: CFHR3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFHR4 | Louise Daugherty commented on gene: CFHR4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFHR5 | Louise Daugherty commented on gene: CFHR5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFHR5 | Louise Daugherty commented on gene: CFHR5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFHR2 | Louise Daugherty classified CFHR2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFHR2 | Louise Daugherty commented on CFHR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFHR5 | Louise Daugherty commented on CFHR5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFHR4 | Louise Daugherty commented on CFHR4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFHR3 | Louise Daugherty commented on CFHR3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFHR2 | Louise Daugherty commented on CFHR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFHR1 | Louise Daugherty commented on CFHR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFH | Louise Daugherty commented on CFH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFHR2 | Louise Daugherty commented on CFHR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFH | Louise Daugherty commented on CFH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFH | Louise Daugherty commented on CFH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFHR5 | Louise Daugherty reviewed CFHR5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFHR4 | Louise Daugherty reviewed CFHR4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFHR3 | Louise Daugherty reviewed CFHR3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFHR2 | Louise Daugherty reviewed CFHR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFHR1 | Louise Daugherty reviewed CFHR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFH | Louise Daugherty reviewed CFH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | CFH | Louise Daugherty Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||