Activity

Filter

Cancel
Date Panel Item Activity
168 actions
Primary immunodeficiency or monogenic inflammatory bowel disease v9.44 BIRC3 Achchuthan Shanmugasundram changed review comment from: PMID:42335979 (2026) reported the identification of rare and damaging BIRC3 variants in 14 patients from 10 unrelated families with Crohn's disease (CD) diagnosed between infancy and adulthood. They carried 8 distinct BIRC3 variants — 5 heterozygous missense/ nonsense variants (p.H312Y - recurrent in 2 families, p.T35A, p.P266R, p.C557X, p.D530H) causing pediatric- to adult-onset CD (age range <1 to 31 years), and 3 homozygous nonsense/ frameshift variants (p.Y522X, p.C588Y, p.X605Rext*10) in sibling pairs from consanguineous families, causing infantile-onset CD.

Functional studies showed that BIRC3 (cIAP2) deficiency impairs RIPK1 ubiquitylation, causing RIPK1 autophosphorylation, resulting in increased epithelial cell death. Knock‑in cIAP2 (H312Y/+) mice and ciap1‑deficient zebrafish developed or exacerbated colitis, transcriptome analysis of mice organoids and zebrafish showed that BIRC3 deficiency led to inappropriate sustained activation of TNF‑responsive genes even without stimuli, and intestinal inflammation in BIRC3‑deficient models was attenuated by small‑molecule inhibition of RIPK1 or caspases.

This gene has not yet been associated with relevant phenotypes in OMIM or ClinGen (last accessed 30 July 2026).; to: PMID:42335979 (2026) reported the identification of rare and damaging BIRC3 variants in 14 patients from 10 unrelated families with Crohn's disease (CD) diagnosed between infancy and adulthood. They carried 8 distinct BIRC3 variants — 5 heterozygous missense/ nonsense variants (p.H312Y - recurrent in 2 families and de novo in the index patient), p.T35A, p.P266R, p.C557X, p.D530H) causing pediatric- to adult-onset CD (age range <1 to 31 years), and 3 homozygous nonsense/ frameshift variants (p.Y522X, p.C588Y, p.X605Rext*10) in sibling pairs from consanguineous families, causing infantile-onset CD.

Functional studies showed that BIRC3 (cIAP2) deficiency impairs RIPK1 ubiquitylation, causing RIPK1 autophosphorylation, resulting in increased epithelial cell death. Knock‑in cIAP2 (H312Y/+) mice and ciap1‑deficient zebrafish developed or exacerbated colitis, transcriptome analysis of mice organoids and zebrafish showed that BIRC3 deficiency led to inappropriate sustained activation of TNF‑responsive genes even without stimuli, and intestinal inflammation in BIRC3‑deficient models was attenuated by small‑molecule inhibition of RIPK1 or caspases.

This gene has not yet been associated with relevant phenotypes in OMIM or ClinGen (last accessed 30 July 2026).
Primary immunodeficiency or monogenic inflammatory bowel disease v9.44 BIRC3 Achchuthan Shanmugasundram Classified gene: BIRC3 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v9.44 BIRC3 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Boaz Palterer, there is sufficient evidence available (seven unrelated families with monoallelic variants and three unrelated families with biallelic variants) for the association of of BIRC3 with inflammatory bowel disease. Hence, this gene can be promoted to green rating in the next GMS update.
Primary immunodeficiency or monogenic inflammatory bowel disease v9.44 BIRC3 Achchuthan Shanmugasundram Gene: birc3 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v9.43 BIRC3 Achchuthan Shanmugasundram Phenotypes for gene: BIRC3 were changed from Inflammatory bowel disease; IBD; Crohn's disease to inborn error of immunity, MONDO:0003778; Crohn disease, MONDO:0005011
Primary immunodeficiency or monogenic inflammatory bowel disease v9.42 BIRC3 Achchuthan Shanmugasundram Publications for gene: BIRC3 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v9.41 BIRC3 Achchuthan Shanmugasundram Tag Q3_26_promote_green tag was added to gene: BIRC3.
Primary immunodeficiency or monogenic inflammatory bowel disease v9.41 BIRC3 Achchuthan Shanmugasundram reviewed gene: BIRC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 42335979; Phenotypes: inborn error of immunity, MONDO:0003778, Crohn disease, MONDO:0005011; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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).
Primary immunodeficiency or monogenic inflammatory bowel disease v9.18 CFB Ida Ertmanska changed review comment from: PMID: 41663882 Bougeard et al., 2026
Report of a 14yo French girl with Neisseria meningitidis serogroup Y meningitis complicated by bacteremia and cerebral venous sinus thrombosis. She was found to be comp het for CFB: p.Gly396Arg and p.Gln713Arg.

PMID: 33165708 Gauthier et al., 2021
8yo male, Caucasian, with repeated pneumococcal infections: pneumococcal bacteriemia at 4 months, pneumococcal meningitis and bacteriemia at 11 months, empyema caused by S. pneumoniae at 8 years: pneumonia with septic shock and acute respiratory distress syndrome (intubated for 9 days + mechanical ventilation + 7 days of extracorporeal membrane oxygenation). Compound heterozygous for CFB variants c.1938dup, p.(Ile647Hisfs*6) and c.1186G>A, p.(Gly396Arg).

PMID: 24152280 Slade et al., 2018
32yo female, recurrent episodes of pneumococcal and meningococcal infections starting at age 2 yrs. She was compound heterozygous for CFB: c.766C>T, p.Gln256* (nonsense), c.1895_1898del, p.Phe632Cysfs*8 (frameshift). Factor B levels were undetectable in the patient.

PMCID: PMC3334074 Dehoorne et al., 2008
Report of a 16-y-old Caucasian girl, who presented with recurrent episodes of aseptic meningitis. She presented with a 2-week history of headache, vomiting, neck stiffness, facial palsy, equilibrium problems, diplopia, and low grade temperature. 4 months prior to admission she presented with a leucocytoclastic vasculitis. Biochemical testing showed very low levels of factor B (1mg/dl), but normal factors I and H. No genetic testing described.

CFB is associated with AR Complement factor B deficiency, MIM:615561 and AD {Hemolytic uremic syndrome, atypical, susceptibility to, 4}, MIM:612924 in OMIM (accessed 22nd Jun 2026).
The association between CFB and AD C3 glomerulonephritis was classified as Limited (Nov 2024), and CFB-related AD atypical hemolytic-uremic syndrome with B factor anomaly was classified as Moderate (July 2023) by the ClinGen Complement-Mediated Kidney Diseases GCEP.; to: PMID: 41663882 Bougeard et al., 2026
Report of a 14yo French girl with Neisseria meningitiis serogroup Y complicated by bacteremia and cerebral venous sinus thrombosis. She was found to be comp het for CFB: p.Gly396Arg and p.Gln713Arg.

PMID: 33165708 Gauthier et al., 2021
8yo male, Caucasian, with repeated pneumococcal infections: pneumococcal bacteriemia at 4 months, pneumococcal meningitis and bacteriemia at 11 months, empyema caused by S. pneumoniae at 8 years: pneumonia with septic shock and acute respiratory distress syndrome (intubated for 9 days + mechanical ventilation + 7 days of extracorporeal membrane oxygenation). Compound heterozygous for CFB variants c.1938dup, p.(Ile647Hisfs*6) and c.1186G>A, p.(Gly396Arg).

PMID: 24152280 Slade et al., 2018
32yo female, recurrent episodes of pneumococcal and meningococcal infections starting at age 2 yrs. She was compound heterozygous for CFB: c.766C>T, p.Gln256* (nonsense), c.1895_1898del, p.Phe632Cysfs*8 (frameshift). Factor B levels were undetectable in the patient.

PMCID: PMC3334074 Dehoorne et al., 2008
Report of a 16-y-old Caucasian girl, who presented with recurrent episodes of aseptic meningitis. She presented with a 2-week history of headache, vomiting, neck stiffness, facial palsy, equilibrium problems, diplopia, and low grade temperature. 4 months prior to admission she presented with a leucocytoclastic vasculitis. Biochemical testing showed very low levels of factor B (1mg/dl), but normal factors I and H. No genetic testing described.

CFB is associated with AR Complement factor B deficiency, MIM:615561 and AD {Hemolytic uremic syndrome, atypical, susceptibility to, 4}, MIM:612924 in OMIM (accessed 22nd Jun 2026).
The association between CFB and AD C3 glomerulonephritis was classified as Limited (Nov 2024), and CFB-related AD atypical hemolytic-uremic syndrome with B factor anomaly was classified as Moderate (July 2023) by the ClinGen Complement-Mediated Kidney Diseases GCEP.
Primary immunodeficiency or monogenic inflammatory bowel disease v9.16 BIRC3 Boaz Palterer gene: BIRC3 was added
gene: BIRC3 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: BIRC3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: BIRC3 were set to Inflammatory bowel disease; IBD; Crohn's disease
Penetrance for gene: BIRC3 were set to unknown
Review for gene: BIRC3 was set to GREEN
Added comment: Qi Li et al. described 14 patients from 10 unrelated families with monoallelic and biallelic variants in BIRC3 presenting with CD. Biallelic variants present more severe and earlier. Extensive funtional validation including zebrafish and mice models, recapitulating phenotype
https://www.gastrojournal.org/article/S0016-5085(26)06946-5/fulltext
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v9.15 CFB Ida Ertmanska changed review comment from: Comment on list classification: There are now 3 unrelated families reported where individuals harbouring biallelic CFB variants presented with immunodeficiency - particularly recurrent meningococcal and pneumococcal infections. Individuals heterozygous for CFB variants present with aHUS / C3G renal disease, rather than PID. Hence, this gene can be promoted to Green on Primary immunodeficiency or monogenic inflammatory bowel disease, with mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal.; to: Comment on list classification: There are now 3 unrelated families reported where individuals harbouring biallelic CFB variants presented with immunodeficiency - particularly recurrent meningococcal and pneumococcal infections. Individuals heterozygous for GoF CFB variants present with aHUS / C3G renal disease (PMID: 17182750), rather than PID. Hence, this gene can be promoted to Green on Primary immunodeficiency or monogenic inflammatory bowel disease, with mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal.
Primary immunodeficiency or monogenic inflammatory bowel disease v9.15 CFB Ida Ertmanska Added comment: Comment on list classification: There are now 3 unrelated families reported where individuals harbouring biallelic CFB variants presented with immunodeficiency - particularly recurrent meningococcal and pneumococcal infections. Individuals heterozygous for CFB variants present with aHUS / C3G renal disease, rather than PID. Hence, this gene can be promoted to Green on Primary immunodeficiency or monogenic inflammatory bowel disease, with mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal.
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).
Primary immunodeficiency or monogenic inflammatory bowel disease v8.82 SLC39A4 Ida Ertmanska Tag Q3_25_promote_green was removed from gene: SLC39A4.
Primary immunodeficiency or monogenic inflammatory bowel disease v8.82 SLC30A2 Ida Ertmanska Tag Q3_25_promote_green was removed from gene: SLC30A2.
Tag Q3_25_MOI was removed from gene: SLC30A2.
Tag Q3_25_expert_review was removed from gene: SLC30A2.
Primary immunodeficiency or monogenic inflammatory bowel disease v8.82 SLC39A4 Ida Ertmanska reviewed gene: SLC39A4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v8.82 SLC30A2 Ida Ertmanska commented on gene: SLC30A2
Primary immunodeficiency or monogenic inflammatory bowel disease v8.81 SLC39A4 Ida Ertmanska Source Expert Review Green was added to SLC39A4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v8.65 SLC39A4 Arina Puzriakova Classified gene: SLC39A4 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v8.65 SLC39A4 Arina Puzriakova Gene: slc39a4 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v8.64 SLC39A4 Arina Puzriakova Phenotypes for gene: SLC39A4 were changed from Acrodermatitis enteropathica (Disorder of zinc metabolism); Acrodermatitis enteropathica 201100 (Disorder of zinc metabolism) to Acrodermatitis enteropathica, OMIM:201100; Disorder of zinc metabolism
Primary immunodeficiency or monogenic inflammatory bowel disease v8.63 SLC39A4 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: SLC39A4.
Primary immunodeficiency or monogenic inflammatory bowel disease v8.63 SLC39A4 Arina Puzriakova Classified gene: SLC39A4 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v8.63 SLC39A4 Arina Puzriakova Gene: slc39a4 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v8.62 SLC39A4 Arina Puzriakova gene: SLC39A4 was added
gene: SLC39A4 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: London North GLH,Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A4 were set to 27604308
Phenotypes for gene: SLC39A4 were set to Acrodermatitis enteropathica (Disorder of zinc metabolism); Acrodermatitis enteropathica 201100 (Disorder of zinc metabolism)
Primary immunodeficiency or monogenic inflammatory bowel disease v8.61 SLC30A2 Arina Puzriakova Classified gene: SLC30A2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v8.61 SLC30A2 Arina Puzriakova Gene: slc30a2 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v8.60 SLC30A2 Arina Puzriakova Tag Q3_25_MOI tag was added to gene: SLC30A2.
Primary immunodeficiency or monogenic inflammatory bowel disease v8.60 SLC30A2 Arina Puzriakova gene: SLC30A2 was added
gene: SLC30A2 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: ClinGen,Literature
Q3_25_promote_green, Q3_25_expert_review tags were added to gene: SLC30A2.
Mode of inheritance for gene: SLC30A2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: SLC30A2 were set to 17065149; 36967740; 22733820; 24194756; 24456035; 27304099; 28111782; 37082517; 23741301; 32278324
Phenotypes for gene: SLC30A2 were set to Zinc deficiency, transient neonatal, OMIM:608118; zinc deficiency, transient neonatal, MONDO:0011973
Review for gene: SLC30A2 was set to AMBER
Added comment: SLC30A2 is associated with Zinc deficiency, transient neonatal, OMIM:608118 in OMIM (accessed 29-10-2025), and has a DEFINITIVE gene disease association with zinc deficiency, transient neonatal, MONDO:0011973 in ClinGen (curation entry from 24-01-2025).

This condition occurs in breast-fed infants as a consequence of low milk zinc concentration in maternal breast milk, caused by maternal heterozygous variants in the SLC30A2 gene. Zinc deficiency can lead to dermatitis, alopecia, decreased growth, and impaired immune function. More severe forms of SLC30A2-related zinc deficiency may resemble the more severe disorder acrodermatitis enteropathica which would lead to consideration of genetic investigations.

The ClinGen summary states that eleven unique variants, including missense, nonsense, and frameshift mutations, documented in 13 unrelated mothers whose infants affected with TNZD across 10 publications (PMIDs: 17065149, 36967740, 22733820, 24194756, 24456035, 27304099, 28111782, 37082517, 23741301, 32278324).

Though most cases follow a dominant pattern of inheritance, distinct biallelic variants have been reported in two unrelated families with severe zinc deficiency (PMID: 23741301; 32278324), which is more likely to resemble acrodermatitis enteropathica in a clinical setting.
Sources: ClinGen, Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.557 TTC37 Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for TTC37 is SKIC3.; to: Added new-gene-name tag, new approved HGNC gene symbol for TTC37 is SKIC3.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.557 TTC37 Sarah Leigh Tag new-gene-name tag was added to gene: TTC37.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.557 TTC37 Sarah Leigh commented on gene: TTC37
Primary immunodeficiency or monogenic inflammatory bowel disease v2.555 SLC37A4 Arina Puzriakova Phenotypes for gene: SLC37A4 were changed from Glycogen storage disease Ic; Glycogen storage disease Ib, 232220; Glycogen storage disease Ib; Glycogen storage disease type 1b (GS1b); Glycogen storage disease with or without neutropenia; Fasting hypoglycemia, lactic acidosis, hyperlipidemia, hepatomegaly; Congenital defects of phagocyte number or function to Glycogen storage disease Ib, OMIM:232220; Glycogen storage disease Ic, OMIM:232240; Fasting hypoglycemia, lactic acidosis, hyperlipidemia, hepatomegaly; Congenital defects of phagocyte number or function
Primary immunodeficiency or monogenic inflammatory bowel disease v2.550 C2 Dmitrijs Rots reviewed gene: C2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34899688, 32113979; Phenotypes: aHUS and C3-mediated glomerulopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SLC39A7 Arina Puzriakova Tag for-review was removed from gene: SLC39A7.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SLC39A7 Arina Puzriakova commented on gene: SLC39A7: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 SLC39A7 Arina Puzriakova Source Expert Review Green was added to SLC39A7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.426 LRRC32 Arina Puzriakova Classified gene: LRRC32 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.426 LRRC32 Arina Puzriakova Added comment: Comment on list classification: Novel candidate gene added by Boaz Palterer. Rating Red as currently there is not enough evidence to support this gene-disease association.

Lehmkuhl et al. 2021 (PMID: 34059789) - 2 unrelated patients with immunodeficiency were found to harbour two rare heterozygous missense variants each in the LRRC32 gene (p.Arg312Cys (recurring), p.Trp247Ter, p.Arg421Gln) - variants were in cis in one patient, but in trans in the other.

Note that a different homozygous founder variant was also found in 2 families with GDD, cleft palate, and proliferative retinopathy (PMID: 30976112) - none of these features were evident in the two cases discussed here.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.426 LRRC32 Arina Puzriakova Gene: lrrc32 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.423 LRRC32 Boaz Palterer gene: LRRC32 was added
gene: LRRC32 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: LRRC32 was set to Unknown
Publications for gene: LRRC32 were set to 34059789
Phenotypes for gene: LRRC32 were set to Common variable immunodeficiency; Enteropathy; Lymphopenia; Reduced Tregs
Penetrance for gene: LRRC32 were set to unknown
Review for gene: LRRC32 was set to RED
Added comment: Lehmkuhl et al. described two patients with immune dysregulation and mutations of LRRC32. Both patients carried two rare variants, however, patient 1 has both variants in cis, while patient 2 was a compound heterozygote. Reduced protein expression ex-vivo was demonstrated. Conditional mice KO model recapitulated the phenotype.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.404 MAP1LC3B2 Arina Puzriakova Classified gene: MAP1LC3B2 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.404 MAP1LC3B2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Boaz Palterer. Single patient described in PMID:33310865 with recurrent herpes simplex virus 2-induced lymphocytic Mollaret's meningitis, and a MAP1LC3B2 variant (c.325C>A) supported by functional data. Rating Red, awaiting further evidence.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.404 MAP1LC3B2 Arina Puzriakova Gene: map1lc3b2 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.401 MAP1LC3B2 Boaz Palterer gene: MAP1LC3B2 was added
gene: MAP1LC3B2 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: MAP1LC3B2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAP1LC3B2 were set to 33310865
Phenotypes for gene: MAP1LC3B2 were set to Mollaret’s meningitis; recurrent HSV2 meningitis
Penetrance for gene: MAP1LC3B2 were set to unknown
Review for gene: MAP1LC3B2 was set to RED
Added comment: Hait et al. described a single patient with a rare heterozygous variant in MAP1LC3B2 presenting with recurrent HSV2 meningitis (Mollaret's meningitis). They showed that the mutations caused impaired HSV2-induced autophagy leading to increased viral replication and apoptosis of patient fibroblasts. The defect was rescued by the introduction of WT MAP1LC3B2 into patient fibroblasts.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.356 SLC39A7 Arina Puzriakova Classified gene: SLC39A7 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.356 SLC39A7 Arina Puzriakova Gene: slc39a7 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.355 SLC39A7 Arina Puzriakova Tag for-review tag was added to gene: SLC39A7.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.175 ZC3HC1 Sarah Leigh reviewed gene: ZC3HC1: Rating: RED; Mode of pathogenicity: ; Publications: https://doi.org/10.1101/499988; Phenotypes: primary immunodeficiency; Mode of inheritance: Unknown
Primary immunodeficiency or monogenic inflammatory bowel disease v2.174 ZC3HC1 Sarah Leigh gene: ZC3HC1 was added
gene: ZC3HC1 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: ZC3HC1 was set to Unknown
Phenotypes for gene: ZC3HC1 were set to primary immunodeficiency
Primary immunodeficiency or monogenic inflammatory bowel disease v2.91 SLC39A7 Ivone Leong Classified gene: SLC39A7 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.91 SLC39A7 Ivone Leong Gene: slc39a7 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.87 RECQL4 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported in 3 unrelated cases in which immunodeficiecy was a feature (PMID 16630167; 21143835; 26064716). In addition RECQL4 variants have been implicated in Acrodermatitis Enteropathica caused by SLC39A4 (p.Gly512Trp)(PMID 30174688)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.57 RC3H1 Sarah Leigh Classified gene: RC3H1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.57 RC3H1 Sarah Leigh Gene: rc3h1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.56 RC3H1 Sarah Leigh Publications for gene: RC3H1 were set to PMID: 31636267
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 SLC39A7 Zornitza Stark reviewed gene: SLC39A7: Rating: GREEN; Mode of pathogenicity: None; Publications: 30718914; Phenotypes: Antibody deficiency, early onset infections, blistering dermatosis, failure to thrive, thrombocytopaenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 SLC39A7 Louise Daugherty edited their review of gene: SLC39A7: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 30718914
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 SLC39A7 Louise Daugherty Publications for gene SLC39A7 were updated from 32048120; 30718914; 32086639 to 32086639; 32048120; 30718914
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 SLC39A7 Louise Daugherty Source IUIS Classification December 2019 was added to SLC39A7.
Added phenotypes Early onset infections, blistering dermatosis, failure to thrive, thrombocytopenia; Predominantly Antibody Deficiencies for gene: SLC39A7
Publications for gene SLC39A7 were updated from 30718914 to 32048120; 30718914; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.30 RAC2 Louise Daugherty Phenotypes for gene: RAC2 were changed from T-B- SCID; T-B+ SCID; Neutrophil immunodeficiency syndrome 608203; Neutrophil immunodeficiency syndrome; RAS-related C3 Bolutinum toxin substrate 2 deficiency (RAC2); Poor wound healing, leukocytosis; Congenital defects of phagocyte number or function to T-B- SCID; T-B+ SCID; Neutrophil immunodeficiency syndrome 608203; Neutrophil immunodeficiency syndrome; RAS-related C3 Bolutinum toxin substrate 2 deficiency (RAC2); Poor wound healing, leukocytosis; Congenital defects of phagocyte number or function; Reticular dysgenesis; Recurrent sinopulmonary infections, selective IgA defiency; poststreptococcal glomerulonephritis; urticaria
Primary immunodeficiency or monogenic inflammatory bowel disease v2.8 SLC39A7 Louise Daugherty Classified gene: SLC39A7 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.8 SLC39A7 Louise Daugherty Gene: slc39a7 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.7 RC3H1 Louise Daugherty Classified gene: RC3H1 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.7 RC3H1 Louise Daugherty Gene: rc3h1 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 RC3H1 Louise Daugherty reviewed gene: RC3H1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 SLC39A7 Louise Daugherty reviewed gene: SLC39A7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 SLC39A7 Owen Siggs gene: SLC39A7 was added
gene: SLC39A7 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: SLC39A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A7 were set to 30718914
Phenotypes for gene: SLC39A7 were set to Agammaglobulinemia; B cell deficiency
Review for gene: SLC39A7 was set to GREEN
Added comment: Six individuals from five families with biallelic missense +/- nonsense variants, phenocopied by mouse models.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 RC3H1 Owen Siggs gene: RC3H1 was added
gene: RC3H1 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: RC3H1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RC3H1 were set to PMID: 31636267
Phenotypes for gene: RC3H1 were set to Hemophagocytic lymphohistiocytosis
Penetrance for gene: RC3H1 were set to unknown
Added comment: Single case, homozygous nonsense in consanguineous kindred, clinical phenotype resembling HLH (PMID: 31636267). Convincing functional evidence of causation with phenotypic similarities to mouse model. Promote to Green List once second unrelated case identified.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 ERCC3 Louise Daugherty commented on gene: ERCC3: Trichothiodystrophy / XP: DNA repair - short, microcephaly, delay, ectodermal features with photosensitivity. Omim 2 sibs in a consang family Jan 17 - amber association, relevant phenotype?)
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 v1.128 ERCC3 Louise Daugherty Source Expert Review Red was added to ERCC3.
Source Victorian Clinical Genetics Services was added to ERCC3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 ERCC3 Louise Daugherty commented on gene: ERCC3: 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 Red
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 ERCC3 Louise Daugherty commented on gene: ERCC3: 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 Red
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 ERCC3 Louise Daugherty commented on gene: ERCC3: Genes with discrepant ratings (PID 100K vs sumbmitted LNGLH submitted Immunology lists)--agreed rating in webex call 28 March 2019
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TTC37 Louise Daugherty commented on gene: TTC37: 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 SLC37A4 Louise Daugherty commented on gene: SLC37A4: 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 SLC35C1 Louise Daugherty commented on gene: SLC35C1: 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 G6PC3 Louise Daugherty commented on gene: G6PC3: 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 C3 Louise Daugherty commented on gene: C3: 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 TTC37 Louise Daugherty commented on gene: TTC37: 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 SLC37A4 Louise Daugherty commented on gene: SLC37A4: 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 SLC35C1 Louise Daugherty commented on gene: SLC35C1: 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 G6PC3 Louise Daugherty commented on gene: G6PC3: 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 C3 Louise Daugherty commented on gene: C3: 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 TTC37 Kimberly Gilmour reviewed gene: TTC37: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SLC37A4 Kimberly Gilmour reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SLC35C1 Kimberly Gilmour reviewed gene: SLC35C1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 G6PC3 Kimberly Gilmour reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C3 Kimberly Gilmour reviewed gene: C3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TTC37 Tracy Briggs reviewed gene: TTC37: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SLC37A4 Tracy Briggs reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SLC35C1 Tracy Briggs reviewed gene: SLC35C1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 G6PC3 Tracy Briggs commented on gene: G6PC3: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C3 Tracy Briggs reviewed gene: C3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.77 ERCC3 Louise Daugherty reviewed gene: ERCC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.77 ERCC3 Louise Daugherty Phenotypes for gene: ERCC3 were changed from MASP2 deficiency 613791; Mannan-binding lectin serine protease (MASP) deficiency; Pyogenic infections, inflammatory lung disease, autoimmunity; Complement Deficiencies to none
Primary immunodeficiency or monogenic inflammatory bowel disease v1.76 ERCC3 Louise Daugherty Publications for gene: ERCC3 were set to 24658431
Primary immunodeficiency or monogenic inflammatory bowel disease v1.75 ERCC3 Louise Daugherty Publications for gene: ERCC3 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.74 ERCC3 Louise Daugherty Phenotypes for gene: ERCC3 were changed from to MASP2 deficiency 613791; Mannan-binding lectin serine protease (MASP) deficiency; Pyogenic infections, inflammatory lung disease, autoimmunity; Complement Deficiencies
Primary immunodeficiency or monogenic inflammatory bowel disease v1.73 ERCC3 Louise Daugherty Mode of inheritance for gene: ERCC3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v1.67 ERCC3 Louise Daugherty Source London North GLH was added to ERCC3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.66 ERCC3 Louise Daugherty Source NHS GMS was added to ERCC3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.65 ERCC3 Louise Daugherty gene: ERCC3 was added
gene: ERCC3 was added to Primary immunodeficiency. Sources: North West GLH
Mode of inheritance for gene: ERCC3 was set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 CFHR5 Louise Daugherty ERCC3 was changed to CFHR5
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 ERCC3 Louise Daugherty Source North West GLH was added to ERCC3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 TTC37 Louise Daugherty Source NHS GMS was added to TTC37.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 SLC37A4 Louise Daugherty Source NHS GMS was added to SLC37A4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 SLC35C1 Louise Daugherty Source NHS GMS was added to SLC35C1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 G6PC3 Louise Daugherty Source NHS GMS was added to G6PC3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 C3 Louise Daugherty Source NHS GMS was added to C3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 TTC37 Louise Daugherty Source North West GLH was added to TTC37.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 SLC37A4 Louise Daugherty Source North West GLH was added to SLC37A4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 SLC35C1 Louise Daugherty Source North West GLH was added to SLC35C1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 G6PC3 Louise Daugherty Source North West GLH was added to G6PC3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 C3 Louise Daugherty Source North West GLH was added to C3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 TTC37 Louise Daugherty Source London North GLH was added to TTC37.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 SLC37A4 Louise Daugherty Source London North GLH was added to SLC37A4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 SLC35C1 Louise Daugherty Source London North GLH was added to SLC35C1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 G6PC3 Louise Daugherty Source London North GLH was added to G6PC3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 C3 Louise Daugherty Source London North GLH was added to C3.
Primary immunodeficiency or monogenic inflammatory bowel disease ERCC3 Louise Daugherty marked gene: ERCC3 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease ERCC3 Louise Daugherty classified ERCC3 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease C3 Louise Daugherty commented on gene: C3
Primary immunodeficiency or monogenic inflammatory bowel disease TTC37 Louise Daugherty commented on gene: TTC37
Primary immunodeficiency or monogenic inflammatory bowel disease SLC35C1 Louise Daugherty edited their review of gene: SLC35C1
Primary immunodeficiency or monogenic inflammatory bowel disease SLC37A4 Louise Daugherty commented on gene: SLC37A4
Primary immunodeficiency or monogenic inflammatory bowel disease G6PC3 Louise Daugherty commented on gene: G6PC3
Primary immunodeficiency or monogenic inflammatory bowel disease C3 Louise Daugherty classified C3 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease ERCC3 Sophie Hambleton reviewed gene: ERCC3
Primary immunodeficiency or monogenic inflammatory bowel disease ERCC3 Louise Daugherty classified ERCC3 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TTC37 Louise Daugherty marked gene: TTC37 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease SLC37A4 Louise Daugherty marked gene: SLC37A4 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease G6PC3 Louise Daugherty marked gene: G6PC3 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease C3 Louise Daugherty marked gene: C3 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease SLC35C1 Louise Daugherty marked gene: SLC35C1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease SLC35C1 Sophie Hambleton reviewed gene: SLC35C1
Primary immunodeficiency or monogenic inflammatory bowel disease C3 Sophie Hambleton reviewed gene: C3
Primary immunodeficiency or monogenic inflammatory bowel disease G6PC3 Sophie Hambleton edited their review of gene: G6PC3
Primary immunodeficiency or monogenic inflammatory bowel disease C3 Louise Daugherty classified C3 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease C3 Louise Daugherty edited their review of gene: C3
Primary immunodeficiency or monogenic inflammatory bowel disease SLC35C1 Eleanor Williams classified SLC35C1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease SLC35C1 Eleanor Williams commented on SLC35C1
Primary immunodeficiency or monogenic inflammatory bowel disease TTC37 Louise Daugherty edited their review of TTC37
Primary immunodeficiency or monogenic inflammatory bowel disease TTC37 Louise Daugherty classified TTC37 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TTC37 Louise Daugherty commented on TTC37
Primary immunodeficiency or monogenic inflammatory bowel disease C3 Louise Daugherty commented on C3
Primary immunodeficiency or monogenic inflammatory bowel disease TTC37 Louise Daugherty commented on TTC37
Primary immunodeficiency or monogenic inflammatory bowel disease SLC35C1 Louise Daugherty commented on SLC35C1
Primary immunodeficiency or monogenic inflammatory bowel disease SLC35C1 Louise Daugherty classified SLC35C1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TTC37 Louise Daugherty commented on TTC37
Primary immunodeficiency or monogenic inflammatory bowel disease SLC37A4 Louise Daugherty commented on SLC37A4
Primary immunodeficiency or monogenic inflammatory bowel disease SLC35C1 Louise Daugherty commented on SLC35C1
Primary immunodeficiency or monogenic inflammatory bowel disease G6PC3 Louise Daugherty commented on G6PC3
Primary immunodeficiency or monogenic inflammatory bowel disease C3 Louise Daugherty commented on C3
Primary immunodeficiency or monogenic inflammatory bowel disease TTC37 Louise Daugherty commented on TTC37
Primary immunodeficiency or monogenic inflammatory bowel disease SLC37A4 Louise Daugherty commented on SLC37A4
Primary immunodeficiency or monogenic inflammatory bowel disease SLC35C1 Louise Daugherty commented on SLC35C1
Primary immunodeficiency or monogenic inflammatory bowel disease G6PC3 Louise Daugherty commented on G6PC3
Primary immunodeficiency or monogenic inflammatory bowel disease C3 Louise Daugherty commented on C3
Primary immunodeficiency or monogenic inflammatory bowel disease TTC37 Louise Daugherty reviewed TTC37
Primary immunodeficiency or monogenic inflammatory bowel disease SLC37A4 Louise Daugherty reviewed SLC37A4
Primary immunodeficiency or monogenic inflammatory bowel disease SLC35C1 Louise Daugherty reviewed SLC35C1
Primary immunodeficiency or monogenic inflammatory bowel disease G6PC3 Louise Daugherty reviewed G6PC3
Primary immunodeficiency or monogenic inflammatory bowel disease C3 Louise Daugherty reviewed C3
Primary immunodeficiency or monogenic inflammatory bowel disease C3 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease C3 Louise Daugherty Added gene to panel