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Primary immunodeficiency or monogenic inflammatory bowel disease v4.202 RNU4ATAC Arina Puzriakova Phenotypes for gene: RNU4ATAC were changed from Recurrent bacterial infections, lymphadenopathy, Spondyloepiphyseal dysplasia, extreme intrauterine growth retardation, retinal dystrophy, facial dysmorphism, may present with microcephaly, short stature; Recurrent bacterial infections, lymphadenopathy, Spondyloepiphyseal dysplasia, extreme intrauterine growth retardation, retinal dystrophy, facial dysmorphism, may present with microcephaly; Combined immunodeficiencies with associated or syndromic features to Roifman syndrome, OMIM:616651; Recurrent bacterial infections, lymphadenopathy, Spondyloepiphyseal dysplasia, extreme intrauterine growth retardation, retinal dystrophy, facial dysmorphism, may present with microcephaly
Primary immunodeficiency or monogenic inflammatory bowel disease v4.201 PTCRA Achchuthan Shanmugasundram Classified gene: PTCRA as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.201 PTCRA Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.201 PTCRA Achchuthan Shanmugasundram Gene: ptcra has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.200 PTCRA Achchuthan Shanmugasundram Phenotypes for gene: PTCRA were changed from Autoimmunity; elevated TCRgamma/delta T cells; lymphopenia; low TREC to Autoimmunity, HP:0002960; lymphopenia, MONDO:0003783
Primary immunodeficiency or monogenic inflammatory bowel disease v4.199 PTCRA Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: PTCRA.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.199 PTCRA Achchuthan Shanmugasundram reviewed gene: PTCRA: Rating: GREEN; Mode of pathogenicity: None; Publications: 38422122; Phenotypes: Autoimmunity, HP:0002960, lymphopenia, MONDO:0003783; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.199 IL17RA Arina Puzriakova Added comment: Comment on phenotypes: Previous phenotypes: Candidiasis, familial, 5;Chronic mucocutaneous candidiasis (CMC);Immunodeficiency 51, 613953;Defects in Intrinsic and Innate Immunity;CMC, folliculitis;Defects in Intrinsic and Innate Immunity
Primary immunodeficiency or monogenic inflammatory bowel disease v4.199 IL17RA Arina Puzriakova Phenotypes for gene: IL17RA were changed from Candidiasis, familial, 5; Chronic mucocutaneous candidiasis (CMC); Immunodeficiency 51, 613953; Defects in Intrinsic and Innate Immunity; CMC, folliculitis; Defects in Intrinsic and Innate Immunity to Immunodeficiency 51, OMIM:613953
Primary immunodeficiency or monogenic inflammatory bowel disease v4.198 ADA Arina Puzriakova Added comment: Comment on phenotypes: Previous phenotypes: Severe combined immunodeficiency due to ADA deficiency (some mosiacism noted);Severe combined immunodeficiency due to ADA deficiency, 102700;T-B- SCID;T-B+ SCID;Adenosine deaminase (ADA) deficiency;Atypical Severe Combined Immunodeficiency (Atypical SCID);Omenn syndrome;Severe combined immunodeficiency (SCID);Low NK, bone defects, may have pulmonary alveolar proteinosis, cognitive defects;Immunodeficiencies affecting cellular and humoral immunity
Primary immunodeficiency or monogenic inflammatory bowel disease v4.198 ADA Arina Puzriakova Phenotypes for gene: ADA were changed from Severe combined immunodeficiency due to ADA deficiency (some mosiacism noted); Severe combined immunodeficiency due to ADA deficiency, 102700; T-B- SCID; T-B+ SCID; Adenosine deaminase (ADA) deficiency; Atypical Severe Combined Immunodeficiency (Atypical SCID); Omenn syndrome; Severe combined immunodeficiency (SCID); Low NK, bone defects, may have pulmonary alveolar proteinosis, cognitive defects; Immunodeficiencies affecting cellular and humoral immunity to Severe combined immunodeficiency due to ADA deficiency, OMIM:102700; Adenosine deaminase deficiency, partial, OMIM:102700
Primary immunodeficiency or monogenic inflammatory bowel disease v4.197 IKBKG Arina Puzriakova Phenotypes for gene: IKBKG were changed from Immunodeficiency 33, 300636; Ectodermal dysplasia, hypohidrotic, with immune deficiency 300291; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301; Immunodeficiency, isolated, 300584; Invasive pneumococcal disease, recurrent isolated, 2,300640; Defects of TLR/NFkappa-B signalling; Anhidrotic ectodermal dysplasia (in some), various infections (bacteria, mycobacteria, viruses and fungi), colitis, conical teeth, variable defects of skin, hair and teeth, monocyte dysfunction; Combined immunodeficiencies with associated or syndromic features to Ectodermal dysplasia and immunodeficiency 1, OMIM:300291; Immunodeficiency 33, OMIM:300636
Primary immunodeficiency or monogenic inflammatory bowel disease v4.196 RECQL4 Arina Puzriakova Phenotypes for gene: RECQL4 were changed from Combined immunodeficiency; Rothmund-Thomson syndrome, 268400 to Rothmund-Thomson syndrome, type 2, OMIM:268400; Combined immunodeficiency
Primary immunodeficiency or monogenic inflammatory bowel disease v4.195 EZR Arina Puzriakova Classified gene: EZR as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.195 EZR Arina Puzriakova Added comment: Comment on list classification: New gene added by Boaz Palterer. Not yet associated with any phenotype in OMIM or G2P. Rating Red as only a single case has been reported to date (PMID: 37301410). Patient had B-cell deficiency with progressive hypogammaglobulinemia. Additional cases required prior to promoting this gene.

A homozygous variant in EZR was also found in two siblings with a profound intellectual disability (PMID: 25504542) but no immunological manifestations were reported.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.195 EZR Arina Puzriakova Gene: ezr has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.194 CCBE1 Arina Puzriakova Phenotypes for gene: CCBE1 were changed from Hennekam lymphangiectasia-lymphedema syndrome 1, 235510; Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features; Combined immunodeficiencies with associated or syndromic features to Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510; Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features; Combined immunodeficiencies with associated or syndromic features
Primary immunodeficiency or monogenic inflammatory bowel disease v4.193 PTCRA Boaz Palterer gene: PTCRA was added
gene: PTCRA was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: PTCRA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTCRA were set to 38422122
Phenotypes for gene: PTCRA were set to Autoimmunity; elevated TCRgamma/delta T cells; lymphopenia; low TREC
Penetrance for gene: PTCRA were set to Incomplete
Review for gene: PTCRA was set to GREEN
Added comment: Materna et al. identified 10 subjects from 7 kindreds with biallelic LOF PTCRA variants, moreover, the authors identified common hypomorphic alleles significantly associated with autoimmunity. Extensive in vivo, in vitro, and mouse functional validation and epidemiologic data.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v4.193 SMARCAL1 Arina Puzriakova Added comment: Comment on phenotypes: Previous (overwritten) phenotypes: Schimke disease;Short stature, spondiloepiphyseal dysplasia, intrauterine growth retardation, nephropathy, bacterial, viral, fungal infections, may present as SCID, bone marrow failure;Combined immunodeficiencies with associated or syndromic features
Primary immunodeficiency or monogenic inflammatory bowel disease v4.193 SMARCAL1 Arina Puzriakova Phenotypes for gene: SMARCAL1 were changed from Schimke immunoosseous dysplasia 242900; Schimke disease; Short stature, spondiloepiphyseal dysplasia, intrauterine growth retardation, nephropathy, bacterial, viral, fungal infections, may present as SCID, bone marrow failure; Combined immunodeficiencies with associated or syndromic features to Schimke immunoosseous dysplasia, OMIM:242900
Primary immunodeficiency or monogenic inflammatory bowel disease v4.192 NHEJ1 Arina Puzriakova Added comment: Comment on phenotypes: Previous (overwritten) phenotypes: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation;Severe combined immunodeficiency with microcephaly, growth retardation and sensitivity to ionizing radiation, 611291;T-B- SCID;T-B+ SCID;Combined immunodeficiency;Cernunnos/XLF deficiency;Nl NK, radiation sensitive, microcephaly;Immunodeficiencies affecting cellular and humoral immunity
Primary immunodeficiency or monogenic inflammatory bowel disease v4.192 NHEJ1 Arina Puzriakova Phenotypes for gene: NHEJ1 were changed from Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation; Severe combined immunodeficiency with microcephaly, growth retardation and sensitivity to ionizing radiation, 611291; T-B- SCID; T-B+ SCID; Combined immunodeficiency; Cernunnos/XLF deficiency; Nl NK, radiation sensitive, microcephaly; Immunodeficiencies affecting cellular and humoral immunity to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, OMIM:611291
Primary immunodeficiency or monogenic inflammatory bowel disease v4.191 LCP2 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are three unrelated cases reported now with biallelic LCP2 variants. Hence, this gene should be rated green in the next GMS review.; to: Comment on list classification: There are three unrelated cases reported with biallelic LCP2 variants and functional data available in support of the disease association. Hence, this gene should be rated green in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.191 LCP2 Achchuthan Shanmugasundram Classified gene: LCP2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.191 LCP2 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated cases reported now with biallelic LCP2 variants. Hence, this gene should be rated green in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.191 LCP2 Achchuthan Shanmugasundram Gene: lcp2 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.190 LCP2 Achchuthan Shanmugasundram Tag Q1_24_promote_green tag was added to gene: LCP2.
Tag Q1_24_NHS_review tag was added to gene: LCP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.190 LCP2 Achchuthan Shanmugasundram Phenotypes for gene: LCP2 were changed from SCID; combined T and B cell immunodeficiency; severe neutrophil defects; impaired platelet aggregation to ?Immunodeficiency 81, OMIM:619374
Primary immunodeficiency or monogenic inflammatory bowel disease v4.189 LCP2 Achchuthan Shanmugasundram Publications for gene: LCP2 were set to 33231617
Primary immunodeficiency or monogenic inflammatory bowel disease v4.188 LCP2 Achchuthan Shanmugasundram reviewed gene: LCP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33231617, 36474126, 37211057; Phenotypes: ?Immunodeficiency 81, OMIM:619374; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.188 HSPA1L Zornitza Stark reviewed gene: HSPA1L: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: inflammatory bowel disease, MONDO:0005265, HSPA1L-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.188 SIRT1 Achchuthan Shanmugasundram Phenotypes for gene: SIRT1 were changed from Type 1 diabetes; autoimmune disease to autoimmune disease, MONDO:0007179
Primary immunodeficiency or monogenic inflammatory bowel disease v4.187 SIRT1 Achchuthan Shanmugasundram Publications for gene: SIRT1 were set to PMID: 23473037
Primary immunodeficiency or monogenic inflammatory bowel disease v4.186 SIRT1 Achchuthan Shanmugasundram Classified gene: SIRT1 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.186 SIRT1 Achchuthan Shanmugasundram Gene: sirt1 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.185 SIRT1 Achchuthan Shanmugasundram reviewed gene: SIRT1: Rating: RED; Mode of pathogenicity: None; Publications: 23473037; Phenotypes: autoimmune disease, MONDO:0007179; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.185 SCGN Achchuthan Shanmugasundram Classified gene: SCGN as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.185 SCGN Achchuthan Shanmugasundram Gene: scgn has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.184 SCGN Achchuthan Shanmugasundram Phenotypes for gene: SCGN were changed from ?early-onset ulcerative colitis to ulcerative colitis, MONDO:0005101
Primary immunodeficiency or monogenic inflammatory bowel disease v4.183 SCGN Achchuthan Shanmugasundram Publications for gene: SCGN were set to PMID: 31663849
Primary immunodeficiency or monogenic inflammatory bowel disease v4.182 SCGN Achchuthan Shanmugasundram changed review comment from: As reviewed by Hannah Knight, PMID:31663849 reported three siblings with homozygous missense SCGN variant and with early-onset ulcerative colitis. Functional studies demonstrated that SCGN variant identified impacted the localisation of the SNARE complex partner, SNAP25, leading to impaired hormone release. In addition, SCGN knockout mouse model recapitulated impaired hormone release and susceptibility to DSS-induced colitis.

This gene has not been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.; to: As reviewed by Hannah Knight, PMID:31663849 reported three siblings with homozygous missense SCGN variant and with early-onset ulcerative colitis. Functional studies demonstrated that SCGN variant identified impacted the localisation of the SNARE complex partner, SNAP25, leading to impaired hormone release. In addition, SCGN knockout mouse model recapitulated impaired hormone release and susceptibility to DSS-induced colitis.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.182 SCGN Achchuthan Shanmugasundram reviewed gene: SCGN: Rating: AMBER; Mode of pathogenicity: None; Publications: 31663849; Phenotypes: ulcerative colitis, MONDO:0005101; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.182 HSPA1L Achchuthan Shanmugasundram Classified gene: HSPA1L as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.182 HSPA1L Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (seven unrelated cases and functional studies) for the promotion of this gene to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.182 HSPA1L Achchuthan Shanmugasundram Gene: hspa1l has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.181 HSPA1L Achchuthan Shanmugasundram Phenotypes for gene: HSPA1L were changed from Inflammatory bowel disease to inflammatory bowel disease, MONDO:0005265
Primary immunodeficiency or monogenic inflammatory bowel disease v4.180 HSPA1L Achchuthan Shanmugasundram Publications for gene: HSPA1L were set to PMID: 28126021
Primary immunodeficiency or monogenic inflammatory bowel disease v4.179 HSPA1L Achchuthan Shanmugasundram Tag Q1_24_promote_green tag was added to gene: HSPA1L.
Tag Q1_24_NHS_review tag was added to gene: HSPA1L.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.179 HSPA1L Achchuthan Shanmugasundram reviewed gene: HSPA1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 28126021; Phenotypes: inflammatory bowel disease, MONDO:0005265; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.179 CARD8 Achchuthan Shanmugasundram Publications for gene: CARD8 were set to 29408806
Primary immunodeficiency or monogenic inflammatory bowel disease v4.178 CARD8 Achchuthan Shanmugasundram Classified gene: CARD8 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.178 CARD8 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Hannah Knight, there are two unrelated cases with heterozygous variants and Inflammatory bowel disease (Crohn disease). Hence, this gene should be rated amber with current evidence.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.178 CARD8 Achchuthan Shanmugasundram Gene: card8 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.177 CARD8 Achchuthan Shanmugasundram Phenotypes for gene: CARD8 were changed from ?Inflammatory bowel disease (Crohn disease) 30 to ?Inflammatory bowel disease (Crohn disease) 30, OMIM:619079
Primary immunodeficiency or monogenic inflammatory bowel disease v4.176 CARD8 Achchuthan Shanmugasundram Publications for gene: CARD8 were set to PMID: 29408806
Primary immunodeficiency or monogenic inflammatory bowel disease v4.175 CARD8 Achchuthan Shanmugasundram reviewed gene: CARD8: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Inflammatory bowel disease (Crohn disease) 30, OMIM:619079; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.175 ANKZF1 Achchuthan Shanmugasundram Classified gene: ANKZF1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.175 ANKZF1 Achchuthan Shanmugasundram Added comment: Comment on list classification: AS there is sufficient evidence for the association of monoallelic variants with infantile-onset inflammatory bowel disease, this gene can be promoted to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.175 ANKZF1 Achchuthan Shanmugasundram Gene: ankzf1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.174 ANKZF1 Achchuthan Shanmugasundram changed review comment from: Comment on mode of inheritance: There are three unrelated cases reported with monoallelic ANKZF1 variants and infantile-onset inflammatory bowel disease. However, there are only two unrelated cases reported with biallelic variants, of which one has homozygous variant and other has compound heterozygous variants. The homozygous variant (p.Arg585Gln) is very common in gnomAD. Functional studies show that R585Q variant causes reduced ANKZF1 mRNA and protein expression and leads to reduced stress-induced mitochondrial translocation.

The MOI should therefore be set as "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted" with the current evidence. In addition, 'watchlist_MOI' tag has been added to review any new evidence in support of the association of biallelic variants to inflammatory bowel disease.; to: Comment on mode of inheritance: There are three unrelated cases reported with monoallelic ANKZF1 variants and infantile-onset inflammatory bowel disease. However, there are only two unrelated cases reported with biallelic variants, of which one has homozygous variant and other has compound heterozygous variants. The homozygous variant (p.Arg585Gln) is very common in gnomAD. Functional studies show that R585Q variant causes reduced ANKZF1 mRNA and protein expression and leads to reduced stress-induced mitochondrial translocation.

The MOI should therefore be set as "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted" with the current evidence. In addition, 'watchlist_moi' tag has been added to review any new evidence in support of the association of biallelic variants to inflammatory bowel disease.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.174 ANKZF1 Achchuthan Shanmugasundram changed review comment from: Comment on mode of inheritance: There are three unrelated cases reported with monoallelic ANKZF1 variants and infantile-onset inflammatory bowel disease. However, there are only two unrelated cases reported with biallelic variants, of which one has homozygous variant and other has compound heterozygous variants. The homozygous variant (p.Arg585Gln) is very common in gnomAD. Functional studies show that R585Q variant causes reduced ANKZF1 mRNA and protein expression and leads to reduced stress-induced mitochondrial translocation.

The MOI should therefore be set as "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted" with the current evidence. In addition, 'watchlist' tag has been added to review any new evidence in support of the association of biallelic variants to inflammatory bowel disease.; to: Comment on mode of inheritance: There are three unrelated cases reported with monoallelic ANKZF1 variants and infantile-onset inflammatory bowel disease. However, there are only two unrelated cases reported with biallelic variants, of which one has homozygous variant and other has compound heterozygous variants. The homozygous variant (p.Arg585Gln) is very common in gnomAD. Functional studies show that R585Q variant causes reduced ANKZF1 mRNA and protein expression and leads to reduced stress-induced mitochondrial translocation.

The MOI should therefore be set as "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted" with the current evidence. In addition, 'watchlist_MOI' tag has been added to review any new evidence in support of the association of biallelic variants to inflammatory bowel disease.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.174 ANKZF1 Achchuthan Shanmugasundram Tag watchlist_moi tag was added to gene: ANKZF1.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.174 ANKZF1 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There are three unrelated cases reported with monoallelic ANKZF1 variants and infantile-onset inflammatory bowel disease. However, there are only two unrelated cases reported with biallelic variants, of which one has homozygous variant and other has compound heterozygous variants. The homozygous variant (p.Arg585Gln) is very common in gnomAD. Functional studies show that R585Q variant causes reduced ANKZF1 mRNA and protein expression and leads to reduced stress-induced mitochondrial translocation.

The MOI should therefore be set as "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted" with the current evidence. In addition, 'watchlist' tag has been added to review any new evidence in support of the association of biallelic variants to inflammatory bowel disease.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.174 ANKZF1 Achchuthan Shanmugasundram Mode of inheritance for gene: ANKZF1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.173 ANKZF1 Achchuthan Shanmugasundram Publications for gene: ANKZF1 were set to PMID: 28302725; PMID: 36857589
Primary immunodeficiency or monogenic inflammatory bowel disease v4.172 ANKZF1 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has not yet been associated with any relevant phenotypes either in OMIM or in Gene2Phenotype.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.172 ANKZF1 Achchuthan Shanmugasundram Phenotypes for gene: ANKZF1 were changed from Inflammatory bowel disease to inflammatory bowel disease, MONDO:0005265
Primary immunodeficiency or monogenic inflammatory bowel disease v4.171 ANKZF1 Achchuthan Shanmugasundram Tag Q1_24_promote_green tag was added to gene: ANKZF1.
Tag Q1_24_NHS_review tag was added to gene: ANKZF1.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.171 ANKZF1 Achchuthan Shanmugasundram reviewed gene: ANKZF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28302725, 36857589; Phenotypes: inflammatory bowel disease, MONDO:0005265; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.171 STAT4 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Hannah Knight, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.; to: Comment on list classification: As reviewed by Hannah Knight, there is sufficient evidence available (three unrelated cases and functional studies) for the association of this gene with disabling pansclerotic morphea of childhood (MIM #620443) and hence this gene can be promoted to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.171 STAT4 Achchuthan Shanmugasundram Classified gene: STAT4 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.171 STAT4 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Hannah Knight, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.171 STAT4 Achchuthan Shanmugasundram Gene: stat4 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.170 STAT4 Achchuthan Shanmugasundram Tag Q1_24_promote_green tag was added to gene: STAT4.
Tag Q1_24_NHS_review tag was added to gene: STAT4.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.170 STAT4 Achchuthan Shanmugasundram changed review comment from: Comment on mode of pathogenicity: As reported in PMID:37256972, functional studies demonstrated that the variants caused a gain-of-function effect.; to: Comment on mode of pathogenicity: As reported in PMID:37256972, functional studies demonstrated that STAT4 variants caused a gain-of-function effect.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.170 STAT4 Achchuthan Shanmugasundram Mode of inheritance for gene: STAT4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.169 STAT4 Achchuthan Shanmugasundram Added comment: Comment on mode of pathogenicity: As reported in PMID:37256972, functional studies demonstrated that the variants caused a gain-of-function effect.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.169 STAT4 Achchuthan Shanmugasundram Mode of pathogenicity for gene: STAT4 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Primary immunodeficiency or monogenic inflammatory bowel disease v4.168 STAT4 Achchuthan Shanmugasundram Publications for gene: STAT4 were set to 29029192
Primary immunodeficiency or monogenic inflammatory bowel disease v4.167 STAT4 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #612253 & #620443), but not in Gene2Phenotype.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.167 STAT4 Achchuthan Shanmugasundram Phenotypes for gene: STAT4 were changed from Paracoccidioidomycosis; Impaired IFN-γ Immunity; {Systemic lupus erythematosus, susceptibility to, 11}, 612253 to Disabling pansclerotic morphea of childhood, OMIM:620443; {Systemic lupus erythematosus, susceptibility to, 11}, OMIM:612253
Primary immunodeficiency or monogenic inflammatory bowel disease v4.166 STAT4 Achchuthan Shanmugasundram reviewed gene: STAT4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 37256972; Phenotypes: Disabling pansclerotic morphea of childhood, OMIM:620443, {Systemic lupus erythematosus, susceptibility to, 11}, OMIM:612253; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.166 LACC1 Achchuthan Shanmugasundram Tag Q1_24_NHS_review tag was added to gene: LACC1.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.166 LACC1 Achchuthan Shanmugasundram Tag Q1_24_promote_green tag was added to gene: LACC1.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.166 LACC1 Achchuthan Shanmugasundram Classified gene: LACC1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.166 LACC1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Hannah Knight, there is sufficient evidence available for the association of this gene with juvenile arthritis and hence with this panel. So, this gene should be promoted to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.166 LACC1 Achchuthan Shanmugasundram Gene: lacc1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.165 LACC1 Achchuthan Shanmugasundram Publications for gene: LACC1 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v4.164 LACC1 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotype in OMIM (MIM #618795), but not yet in Gene2Phenotype.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.164 LACC1 Achchuthan Shanmugasundram Phenotypes for gene: LACC1 were changed from Juvenile arthritis to Juvenile arthritis, OMIM:618795
Primary immunodeficiency or monogenic inflammatory bowel disease v4.163 LACC1 Achchuthan Shanmugasundram reviewed gene: LACC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25220867, 27881174, 29717096, 30872671; Phenotypes: Juvenile arthritis, OMIM:618795; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.163 SIRT1 Hannah Knight gene: SIRT1 was added
gene: SIRT1 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: SIRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SIRT1 were set to PMID: 23473037
Phenotypes for gene: SIRT1 were set to Type 1 diabetes; autoimmune disease
Review for gene: SIRT1 was set to RED
Added comment: In PMID: 36634696 (2023) as one of the genes associated with monogenic IBD.
Just one previous report of it causing disease?
PMID: 23473037 (2013) - five individuals in one family found to have a missense SIRT1 variant (p.L107P). Four presented with type 1 diabetes, and one with ulcerative colitis
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v4.163 SCGN Hannah Knight gene: SCGN was added
gene: SCGN was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: SCGN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCGN were set to PMID: 31663849
Phenotypes for gene: SCGN were set to ?early-onset ulcerative colitis
Review for gene: SCGN was set to RED
Added comment: Not linked to a phenotype in OMIM.
PMID: 31663849 (2019) reported three siblings with early onset UC, all with a homozygous missense variant in SCGN (p.Arg77His). Parents were both heterozygous. Some functional work done
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v4.163 LACC1 Hannah Knight gene: LACC1 was added
gene: LACC1 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: LACC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LACC1 were set to Juvenile arthritis
Review for gene: LACC1 was set to GREEN
Added comment: PMID: 25220867 (2015) - in 13 patients and unaffected members of 5 consanguineous Saudi Arabian families with systemic juvenile idiopathic arthritis, a homozygous missense variant in LACC1 was identified (p.C284R). This segregated fully with disease, and haplotype analysis was consistent with a common founder for the 5 families. Systemic features were present including organomegaly, fevers and rashes
PMID: 27881174 (2016) - 2 Lebanese sisters with juvenile arthritis found to have a homozygous 1bp deletion in LACC1 (c.827delC). Present in heterozygosity in their unaffected consanguineous parents, but was not found in 2 unaffected sibs or in the ExAC database
PMID: 29717096 (2018) identified three different families with homozygous LACC1 variants (p.M1I, p.R414X, p.Ile330del)
PMID: 30872671 (2019) - three affected siblings with a homozygous variant (p.Cys43TyrfsTer6)
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v4.163 HSPA1L Hannah Knight gene: HSPA1L was added
gene: HSPA1L was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: HSPA1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HSPA1L were set to PMID: 28126021
Phenotypes for gene: HSPA1L were set to Inflammatory bowel disease
Review for gene: HSPA1L was set to AMBER
Added comment: PMID: 28126021 (2017) identified a heterozygous de novo variant (c.830C > T; p.Ser277Leu) in HSPA1L in a patient with IBD + some in vitro testing which supported pathogenicity
Then identified five additional rare HSPA1L variants (p.Gly77Ser, p.Leu172del, p.Thr267Ile, p.Ala268Thr, p.Glu558Asp) in six patients from their IBD cohort
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v4.163 CARD8 Hannah Knight gene: CARD8 was added
gene: CARD8 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: CARD8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CARD8 were set to PMID: 29408806
Phenotypes for gene: CARD8 were set to ?Inflammatory bowel disease (Crohn disease) 30
Review for gene: CARD8 was set to AMBER
Added comment: On OMIM as ?association.
PMID: 29408806 (2018) identified a heterozygous missense CARD8 variant (V44I) in a boy, his mother, and his maternal aunt with Crohn disease. Not found in the proband's unaffected father. Functional analysis suggested a dominant-negative effect.

PMID: 37724393 (2023) identified a CARD8 VUS in a paediatric patient with IBD and arthritis. Can't see full paper however
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v4.163 ANKZF1 Hannah Knight gene: ANKZF1 was added
gene: ANKZF1 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: ANKZF1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ANKZF1 were set to PMID: 28302725; PMID: 36857589
Phenotypes for gene: ANKZF1 were set to Inflammatory bowel disease
Review for gene: ANKZF1 was set to AMBER
Added comment: PMID: 28302725 (2017) identified two infantile-onset IBD patients with biallelic ANKZF1 variants + some functional work:
One homozygous for R585Q - although this variant is very common in gnomAD
One compound heterozygous for E152K and V32_Q87del
Also two patients with one heterozygous variants

PMID: 36857589 (2023) also identified a de novo variant (p.Leu415Val) in a young patient with IBD
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v4.163 STAT4 Hannah Knight reviewed gene: STAT4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37256972; Phenotypes: Disabling pansclerotic morphea of childhood; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.163 LCP2 Hannah Knight reviewed gene: LCP2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 37211057, PMID: 36474126; Phenotypes: ?Immunodeficiency 81; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.163 AMFR Boaz Palterer gene: AMFR was added
gene: AMFR was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: AMFR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: AMFR were set to 38277122
Phenotypes for gene: AMFR were set to Severe VZV; Varicella; HLH; Hemophagocytic lymphohistyocytosis
Penetrance for gene: AMFR were set to Incomplete
Review for gene: AMFR was set to RED
Added comment: 1 patient from one kindred with severe disseminated VZV and HLH, incomplete penetrance as mother and siblings are not affected. Extensive functional ex-vivo and in-vitro data.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v4.163 POMP Arina Puzriakova Phenotypes for gene: POMP were changed from CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome); Proteasome-associated autoinflammatory syndrome 2, 618048; combined immunodeficiency with autoinflammation to Proteasome-associated autoinflammatory syndrome 2, OMIM:618048; CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome); Combined immunodeficiency with autoinflammation
Primary immunodeficiency or monogenic inflammatory bowel disease v4.162 CNBP Sarah Leigh Tag currently-ngs-unreportable was removed from gene: CNBP.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.162 FGL2 Achchuthan Shanmugasundram Classified gene: FGL2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.162 FGL2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Boaz Palterer and reported in PMID:36243222, there is a child with early-onset systemic inflammation, autoantibodies, and vasculitis and homozygous truncating FGL2 variant and functional evidence are available in support of the disease association. Hence, this gene should be rated amber with current evidence.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.162 FGL2 Achchuthan Shanmugasundram Gene: fgl2 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.161 FGL2 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.161 FGL2 Achchuthan Shanmugasundram Phenotypes for gene: FGL2 were changed from autoinflammatory syndrome, MONDO:0019751 to autoinflammatory syndrome, MONDO:0019751
Primary immunodeficiency or monogenic inflammatory bowel disease v4.160 FGL2 Achchuthan Shanmugasundram Phenotypes for gene: FGL2 were changed from immunedysregulation; autoimmunity; arthritis; Treg dysfunction; leukocytoclastic vasculitis to autoinflammatory syndrome, MONDO:0019751
Primary immunodeficiency or monogenic inflammatory bowel disease v4.159 FGL2 Achchuthan Shanmugasundram reviewed gene: FGL2: Rating: AMBER; Mode of pathogenicity: None; Publications: 36243222; Phenotypes: autoinflammatory syndrome, MONDO:0019751; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.159 CBLB Achchuthan Shanmugasundram Phenotypes for gene: CBLB were changed from immunedysregulation; autoimmunity; hypothyroidism; diabetes mellitus type I; vitiligo; urticaria; HLH; ITP; autoimmune hemolytic anemia to Autoimmune disease, multisystem, infantile-onset, 3, OMIM:620430
Primary immunodeficiency or monogenic inflammatory bowel disease v4.158 CBLB Achchuthan Shanmugasundram Classified gene: CBLB as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.158 CBLB Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Boaz Palterer and reported in PMID:36006710, there are three unrelated cases and functional evidence are available for the association of biallelic CBLB variants with infantile-onset autoimmune disease (MIM #620430). Hence, this gene should be promoted to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.158 CBLB Achchuthan Shanmugasundram Gene: cblb has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.157 CBLB Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: CBLB.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.157 CBLB Achchuthan Shanmugasundram reviewed gene: CBLB: Rating: GREEN; Mode of pathogenicity: None; Publications: 36006710; Phenotypes: Autoimmune disease, multisystem, infantile-onset, 3, OMIM:620430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.157 FOXI3 Achchuthan Shanmugasundram Mode of inheritance for gene: FOXI3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.156 FOXI3 Achchuthan Shanmugasundram edited their review of gene: FOXI3: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.156 FOXI3 Achchuthan Shanmugasundram Classified gene: FOXI3 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.156 FOXI3 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Boaz Palterer, there are two unrelated families reported with monoallelic FOXI3 variant. However, the variant was inherited from apparently unaffected father in patient 2, which shows reduced penetrance. In addition, evidence from mouse model shows that FOXI3 is involved in thymus development. Hence, this gene should be rated amber.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.156 FOXI3 Achchuthan Shanmugasundram Gene: foxi3 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.155 FOXI3 Achchuthan Shanmugasundram reviewed gene: FOXI3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary immunodeficiency or monogenic inflammatory bowel disease v4.155 MCTS1 Achchuthan Shanmugasundram Classified gene: MCTS1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.155 MCTS1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Boaz Palterer, there is sufficient evidence available (five unrelated cases) for the association of hemizygous MCTS1 variants with MSMD. Hence, this gene can be promoted to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.155 MCTS1 Achchuthan Shanmugasundram Gene: mcts1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.154 MCTS1 Achchuthan Shanmugasundram Phenotypes for gene: MCTS1 were changed from MSMD; non tubercular mycobacteria infection; BCGtis; BCG infection to Inherited susceptibility to mycobacterial diseases, MONDO:0019146
Primary immunodeficiency or monogenic inflammatory bowel disease v4.153 MCTS1 Achchuthan Shanmugasundram Publications for gene: MCTS1 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v4.152 MCTS1 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: MCTS1.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.152 MCTS1 Achchuthan Shanmugasundram reviewed gene: MCTS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 37875108; Phenotypes: Inherited susceptibility to mycobacterial diseases, MONDO:0019146; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Primary immunodeficiency or monogenic inflammatory bowel disease v4.152 MECOM Achchuthan Shanmugasundram Classified gene: MECOM as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.152 MECOM Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Boaz Palterer, there are more than three unrelated cases with either B cell deficiency and/ or hypogammaglobulinemia. Hence, this gene can be promoted to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.152 MECOM Achchuthan Shanmugasundram Gene: mecom has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.151 MECOM Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: MECOM.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.151 MECOM Achchuthan Shanmugasundram reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.151 AICDA Arina Puzriakova Added comment: Comment on mode of inheritance: Should be updated from 'biallelic' to 'both mono- and biallelic' at the next GMS panel update.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.151 AICDA Arina Puzriakova Mode of inheritance for gene: AICDA was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.150 AICDA Arina Puzriakova Publications for gene: AICDA were set to 12958596; 21700883; 27701145
Primary immunodeficiency or monogenic inflammatory bowel disease v4.149 AICDA Arina Puzriakova Tag recurrent-variant tag was added to gene: AICDA.
Tag Q4_23_MOI tag was added to gene: AICDA.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.149 AICDA Arina Puzriakova reviewed gene: AICDA: Rating: GREEN; Mode of pathogenicity: None; Publications: 35748970, 15893695, 35271747; Phenotypes: Immunodeficiency with hyper-IgM, type 2, OMIM:605258; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.149 AICDA Arina Puzriakova Phenotypes for gene: AICDA were changed from Immunodeficiency with hyper-IgM, type 2; Hyper IgM syndrome with lymphoid hyperplasia; Immunodeficiency with hyper-IgM, type 2, 605258; Primary Immune Deficiencies; CSR defects and Hyper IgM (HIGM) syndromes; Bacterial infections, enlarged lymph nodes and germinal centers; Predominantly Antibody Deficiencies to Immunodeficiency with hyper-IgM, type 2, OMIM:605258
Primary immunodeficiency or monogenic inflammatory bowel disease v4.148 STAT6 Achchuthan Shanmugasundram Publications for gene: STAT6 were set to 36884218
Primary immunodeficiency or monogenic inflammatory bowel disease v4.147 STAT6 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.; to: Comment on list classification: There is sufficient evidence available (12 unrelated families and functional data) for the promotion of this gene to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.147 STAT6 Achchuthan Shanmugasundram Classified gene: STAT6 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.147 STAT6 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.147 STAT6 Achchuthan Shanmugasundram Gene: stat6 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.146 STAT6 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: STAT6.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.146 STAT6 Achchuthan Shanmugasundram Deleted their comment
Primary immunodeficiency or monogenic inflammatory bowel disease v4.146 STAT6 Achchuthan Shanmugasundram edited their review of gene: STAT6: Added comment: As reviewed by Dmitrijs Rots, PMID:36884218 reported 16 cases from 10 families with heterozygous STAT6 variants and severe early-onset allergic disease consisting of clinical features including severe, treatment-resistant atopic dermatitis (15/16) and food allergies (15/16) were the most common clinical manifestations, followed by asthma (11/16) and eosinophilic gastrointestinal disease (10/16) and severe episodes of anaphylaxis (9/16).

PMID:36216080 reported heterozygous STAT6 variant with early-onset multiorgan allergies in a family with
3 affected members and PMID:36758835 reported another child with severe atopic dermatitis, eosinophilia and elevated IgE. All these publications also provided extensive functional data which confirms the mechanism as gain-of-function.

This gene has already been associated with relevant phenotypes in OMIM (MIM #620532), but not yet in Gene2Phenotype.; Changed publications to: 36216080, 36758835, 36884218
Primary immunodeficiency or monogenic inflammatory bowel disease v4.146 STAT6 Achchuthan Shanmugasundram Phenotypes for gene: STAT6 were changed from allergic disease, MONDO:0005271 to Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections, OMIM:620532
Primary immunodeficiency or monogenic inflammatory bowel disease v4.145 STAT6 Achchuthan Shanmugasundram edited their review of gene: STAT6: Changed phenotypes to: Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections, OMIM:620532
Primary immunodeficiency or monogenic inflammatory bowel disease v4.145 STAT6 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Dmitrijs Rots, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.; to: Comment on list classification: As reviewed by Dmitrijs Rots, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS review. In addition, functional evidence shows that the mechanism is gain-of-function.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.145 STAT6 Achchuthan Shanmugasundram Classified gene: STAT6 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.145 STAT6 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.145 STAT6 Achchuthan Shanmugasundram Gene: stat6 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.144 STAT6 Achchuthan Shanmugasundram Phenotypes for gene: STAT6 were changed from Primary Atopic Disorder; Atopy; Vascular anomalies; Atopic dermamatitis; Allergy; Atopy; Hyper-IgE; elevated IgE; Eosinophilic esophagitis; Food allergies to allergic disease, MONDO:0005271
Primary immunodeficiency or monogenic inflammatory bowel disease v4.143 STAT6 Achchuthan Shanmugasundram Publications for gene: STAT6 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v4.142 STAT6 Achchuthan Shanmugasundram Mode of inheritance for gene: STAT6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.141 STAT6 Achchuthan Shanmugasundram reviewed gene: STAT6: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 36884218; Phenotypes: allergic disease, MONDO:0005271; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.141 KCNA5 Achchuthan Shanmugasundram Classified gene: KCNA5 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.141 KCNA5 Achchuthan Shanmugasundram Added comment: Comment on list classification: PMID:34536415 reported a 17-year old female patient with early-onset pulmonary and cutaneous vasculitis and biallelic KCNA5 variant (c. 1545C>A) and supporting functional evidence.

Biallelic KCNA5 variants have not yet been associated with any phenotypes either in OMIM or Gene2Phenotype.

This gene should be rated amber with current evidence.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.141 KCNA5 Achchuthan Shanmugasundram Gene: kcna5 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.140 KCNA5 Achchuthan Shanmugasundram Phenotypes for gene: KCNA5 were changed from autoimmunity; autoinflammation to early-onset pulmonary and cutaneous vasculitis, MONDO:0800137
Primary immunodeficiency or monogenic inflammatory bowel disease v4.139 KCNA5 Achchuthan Shanmugasundram Publications for gene: KCNA5 were set to PMID: 35748970; PMID: 34536415
Primary immunodeficiency or monogenic inflammatory bowel disease v4.138 KCNA5 Achchuthan Shanmugasundram reviewed gene: KCNA5: Rating: AMBER; Mode of pathogenicity: None; Publications: 34536415; Phenotypes: early-onset pulmonary and cutaneous vasculitis, MONDO:0800137; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.138 IL23R Achchuthan Shanmugasundram Classified gene: IL23R as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.138 IL23R Achchuthan Shanmugasundram Gene: il23r has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.137 IL23R Achchuthan Shanmugasundram Classified gene: IL23R as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.137 IL23R Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.137 IL23R Achchuthan Shanmugasundram Gene: il23r has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.136 IL23R Achchuthan Shanmugasundram Phenotypes for gene: IL23R were changed from Susceptibility to mycobacteria and Salmonella to inherited susceptibility to mycobacterial diseases, MONDO:0019146; chronic mucocutaneous candidiasis, MONDO:0015279
Primary immunodeficiency or monogenic inflammatory bowel disease v4.135 IL23R Achchuthan Shanmugasundram Publications for gene: IL23R were set to 30578351; 31953710
Primary immunodeficiency or monogenic inflammatory bowel disease v4.134 IL23R Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: IL23R.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.134 IL23R Achchuthan Shanmugasundram reviewed gene: IL23R: Rating: GREEN; Mode of pathogenicity: None; Publications: 36763636; Phenotypes: inherited susceptibility to mycobacterial diseases, MONDO:0019146, chronic mucocutaneous candidiasis, MONDO:0015279; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.134 RANBP2 Achchuthan Shanmugasundram Classified gene: RANBP2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.134 RANBP2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As there are >3 unrelated cases reported with monoallelic variants in this gene, this gene can be promoted to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.134 RANBP2 Achchuthan Shanmugasundram Gene: ranbp2 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.133 RANBP2 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: RANBP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.133 RANBP2 Achchuthan Shanmugasundram reviewed gene: RANBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Encephalopathy, acute, infection-induced, 3, susceptibility to}, OMIM:608033; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.133 DUT Arina Puzriakova Publications for gene: DUT were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v4.132 DUT Arina Puzriakova Tag Q4_23_promote_green tag was added to gene: DUT.
Tag Q4_23_NHS_review tag was added to gene: DUT.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.132 DUT Arina Puzriakova Classified gene: DUT as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.132 DUT Arina Puzriakova Added comment: Comment on list classification: New gene added by Hannah Knight. Homozygous variants identified in at least 10 individuals from 6 unrelated families (French, Egyptian, two Libyan, Sudanese and Scottish) with bone marrow failure and diabetes. DUT silencing in human and rat pancreatic β-cells results in apoptosis via the intrinsic cell death pathway.

Overall there is sufficient evidence to promote this gene to Green at the next GMS panel update.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.132 DUT Arina Puzriakova Gene: dut has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.131 DUT Arina Puzriakova Phenotypes for gene: DUT were changed from Bone marrow failure and diabetes mellitus syndrome to Bone marrow failure and diabetes mellitus syndrome, OMIM:620044
Primary immunodeficiency or monogenic inflammatory bowel disease v4.130 LYN Achchuthan Shanmugasundram Classified gene: LYN as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.130 LYN Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (four unrelated cases and functional studies) for the promotion of this gene to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.130 LYN Achchuthan Shanmugasundram Gene: lyn has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.129 LYN Achchuthan Shanmugasundram Phenotypes for gene: LYN were changed from Autoinflammatory; Neutrophilic vasculitis; Liver fibrosis; Chronic urticaria; Atopic dermatitis; Fever to Autoinflammatory disease, systemic, with vasculitis, OMIM:620376
Primary immunodeficiency or monogenic inflammatory bowel disease v4.128 LYN Achchuthan Shanmugasundram Publications for gene: LYN were set to 36122175
Primary immunodeficiency or monogenic inflammatory bowel disease v4.127 LYN Achchuthan Shanmugasundram Mode of pathogenicity for gene: LYN was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Primary immunodeficiency or monogenic inflammatory bowel disease v4.126 LYN Achchuthan Shanmugasundram Mode of inheritance for gene: LYN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.125 LYN Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: LYN.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.125 LYN Achchuthan Shanmugasundram changed review comment from: As reviewed by Boaz Palterer, there are four unrelated patients reported with systemic autoinflammatory disorder (SAID) and identified with de novo LYN variants. Of these one patient was reported in PMID:36122175 and three unrelated boys were reported in PMID:36932076. The patient data was also supported by functional evidence, which suggested gain of function mechanism for variants.

This gene was associated with relevant phenotypes in OMIM (MIM #620376), but not yet in Gene2Phenotype.; to: As reviewed by Boaz Palterer, there are four unrelated patients reported with systemic autoinflammatory disorder (SAID) and identified with de novo LYN variants. Of these one patient was reported in PMID:36122175 and three unrelated boys were reported in PMID:36932076. The patient data was also supported by functional evidence, which suggested gain of function mechanism for LYN variants.

This gene was associated with relevant phenotypes in OMIM (MIM #620376), but not yet in Gene2Phenotype.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.125 LYN Achchuthan Shanmugasundram changed review comment from: As reviewed by Boaz Palterer, there are four unrelated patients reported with systemic autoinflammatory disorder (SAID) and identified with de novo LYN variants. Of these one patient was reported in PMID:36122175 and three unrelated boys were reported in PMID:36932076. The patient data was also supported by functional evidence which suggested gain of function mechanism for variants.

This gene was associated with relevant phenotypes in OMIM (MIM #620376), but not yet in Gene2Phenotype.; to: As reviewed by Boaz Palterer, there are four unrelated patients reported with systemic autoinflammatory disorder (SAID) and identified with de novo LYN variants. Of these one patient was reported in PMID:36122175 and three unrelated boys were reported in PMID:36932076. The patient data was also supported by functional evidence, which suggested gain of function mechanism for variants.

This gene was associated with relevant phenotypes in OMIM (MIM #620376), but not yet in Gene2Phenotype.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.125 LYN Achchuthan Shanmugasundram reviewed gene: LYN: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 36122175, 36932076; Phenotypes: Autoinflammatory disease, systemic, with vasculitis, OMIM:620376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.125 DCLRE1B Achchuthan Shanmugasundram Tag Q3_21_rating was removed from gene: DCLRE1B.
Tag Q3_21_expert_review was removed from gene: DCLRE1B.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.125 DUT Hannah Knight gene: DUT was added
gene: DUT was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: DUT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DUT were set to Bone marrow failure and diabetes mellitus syndrome
Review for gene: DUT was set to AMBER
Added comment: PMID: 28073829 (2017) - two unrelated consanguineous families with diabetes and bone marrow aplasia, both homozygous for p.Y142C
PMID: 35611808 (2022) - another family, two affected children with thrombocytopenia, macrocytosis, with or without anemia, followed by non-autoimmune diabetes. Same homozygous missense variant identified as before
PMID: 35931051 (2022) - identified probands who came from two independent families, had bi-allelic DUT variants, and presented with severe pancytopenia and mucocutaneous skin features. Information in supplementary materials. One patient homozygous for p.Tyr142Cys and the other compound het for p.Arg173Trp and p.Tyr227Cys
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v4.125 IFNGR2 Arina Puzriakova Publications for gene: IFNGR2 were set to 9616207; 15924140; 18625743; 30264912
Primary immunodeficiency or monogenic inflammatory bowel disease v4.124 IFNGR2 Arina Puzriakova Phenotypes for gene: IFNGR2 were changed from Immunodeficiency 28, Mycobacteriosis, 614889; Defects with susceptibility to mycobacterial infection (MSMD); Susceptibility to mycobacteria and Salmonella; Defects in Intrinsic and Innate Immunity to Immunodeficiency 28, mycobacteriosis, OMIM:614889
Primary immunodeficiency or monogenic inflammatory bowel disease v4.123 IL21R Arina Puzriakova Phenotypes for gene: IL21R were changed from Immunodeficiency 56, 615207; Immunodeficiency, primary, autosomal recessive, IL21R-related; Atypical Severe Combined Immunodeficiency (Atypical SCID); Combined immunodeficiency; Omenn syndrome; Severe combined immunodeficiency (SCID); IL-21R deficiency; Recurrent infections, Pneumocystis jiroveci, Cryptosporidium infections and liver disease; Immunodeficiencies affecting cellular and humoral immunity to Immunodeficiency 56, OMIM:615207
Primary immunodeficiency or monogenic inflammatory bowel disease v4.122 PRF1 Arina Puzriakova Phenotypes for gene: PRF1 were changed from Hemophagocytic lymphohistiocytosis, familial 2, 603553; FHL2; Familial hemophagocytic lymphohistiocytosis syndromes (FHLH); HPLH2; HLH2; Fever, HSM, Hemophagocytic lymphohistiocytosis (HLH), cytopenias; Diseases of Immune Dysregulation to Hemophagocytic lymphohistiocytosis, familial, 2, OMIM:603553
Primary immunodeficiency or monogenic inflammatory bowel disease v4.121 POLD3 Achchuthan Shanmugasundram Deleted their comment
Primary immunodeficiency or monogenic inflammatory bowel disease v4.121 POLD3 Achchuthan Shanmugasundram Classified gene: POLD3 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.121 POLD3 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Hannah Knight, there is one patient identified with homozygous POLD3 variant (p.Ile10Thr) and reported with a syndromic severe combined immunodeficiency (SCID) with neurodevelopmental delay and hearing loss. In addition, there is also functional evidence for this variant. Hence, this gene is promoted to amber rating.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.121 POLD3 Achchuthan Shanmugasundram Gene: pold3 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.121 POLD3 Achchuthan Shanmugasundram Classified gene: POLD3 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.121 POLD3 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Hannah Knight, there is one patient identified with homozygous POLD3 variant (p.Ile10Thr) and reported with a syndromic severe combined immunodeficiency (SCID) with neurodevelopmental delay and hearing loss. In addition, there is also functional evidence for this variant. Hence, this gene is promoted to amber rating.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.121 POLD3 Achchuthan Shanmugasundram Gene: pold3 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.120 POLD3 Achchuthan Shanmugasundram Phenotypes for gene: POLD3 were changed from Immunodeficiency with neurodevelopmental delay and hearing loss to severe combined immunodeficiency, MONDO:0015974
Primary immunodeficiency or monogenic inflammatory bowel disease v4.119 POLD3 Achchuthan Shanmugasundram reviewed gene: POLD3: Rating: AMBER; Mode of pathogenicity: None; Publications: 37030525; Phenotypes: severe combined immunodeficiency, MONDO:0015974; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.119 FMNL2 Achchuthan Shanmugasundram Phenotypes for gene: FMNL2 were changed from Severe very early onset inflammatory bowel disease to inflammatory bowel disease, MONDO:0005265
Primary immunodeficiency or monogenic inflammatory bowel disease v4.118 FMNL2 Achchuthan Shanmugasundram Classified gene: FMNL2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.118 FMNL2 Achchuthan Shanmugasundram Gene: fmnl2 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.117 FMNL2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: FMNL2 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Primary immunodeficiency or monogenic inflammatory bowel disease v4.116 FMNL2 Achchuthan Shanmugasundram reviewed gene: FMNL2: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 34043722; Phenotypes: inflammatory bowel disease, MONDO:0005265; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.116 PTPN2 Achchuthan Shanmugasundram Classified gene: PTPN2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.116 PTPN2 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are two unrelated cases and a Ptpn2 deficient mouse model in support of the association of PTPN2 to this panel. Hence, this gene can be promoted to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.116 PTPN2 Achchuthan Shanmugasundram Gene: ptpn2 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.115 PTPN2 Achchuthan Shanmugasundram Phenotypes for gene: PTPN2 were changed from Lupus; arthritis; common variable immunodeficiency to Lupus; arthritis; common variable immunodeficiency; Very early onset inflammatory bowel disease
Primary immunodeficiency or monogenic inflammatory bowel disease v4.114 PTPN2 Achchuthan Shanmugasundram Publications for gene: PTPN2 were set to 32499645; 27658548
Primary immunodeficiency or monogenic inflammatory bowel disease v4.113 PTPN2 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: PTPN2.
Tag Q4_23_NHS_review tag was added to gene: PTPN2.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.113 PTPN2 Achchuthan Shanmugasundram reviewed gene: PTPN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27658548, 32499645, 32721438; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.113 NLRP1 Achchuthan Shanmugasundram changed review comment from: There are five unrelated cases with monoallelic NLRP1 variants and three unrelated cases with biallelic NLRP1 variants. Some of these variants are reported to be of gain-of-function.

This gene has been associated with multiple relevant phenotypes in both OMIM and Gene2Phenotype (eye panel).; to: There are five unrelated cases with monoallelic NLRP1 variants and three unrelated cases with biallelic NLRP1 variants. Some of these variants are reported to be gain-of-function.

This gene has been associated with multiple relevant phenotypes in both OMIM and Gene2Phenotype (eye panel).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.113 NLRP1 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence available for the association of both monoallelic and biallelic variants in this gene to this panel. Hence, this gene can be promoted to green rating in the next GMS review.; to: Comment on list classification: There is sufficient evidence available for the association of both monoallelic and biallelic variants in this gene to this panel. Hence, this gene can be promoted to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.113 NLRP1 Achchuthan Shanmugasundram Classified gene: NLRP1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.113 NLRP1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of both monoallelic and biallelic variants in this gene to this panel. Hence, this gene can be promoted to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.113 NLRP1 Achchuthan Shanmugasundram Gene: nlrp1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.112 NLRP1 Achchuthan Shanmugasundram Phenotypes for gene: NLRP1 were changed from Dyskeratosis, autoimmunity and arthritis; Palmoplantar carcinoma, corneal scarring; Autoinflammatory Disorders; Autoinflammation with arthritis and dyskeratosis, 617388 to Autoinflammation with arthritis and dyskeratosis, OMIM:617388; ?Respiratory papillomatosis, juvenile recurrent, congenital, OMIM:618803; Palmoplantar carcinoma, multiple self-healing, OMIM:615225; {Vitiligo-associated multiple autoimmune disease susceptibility 1}, OMIM:606579
Primary immunodeficiency or monogenic inflammatory bowel disease v4.111 NLRP1 Achchuthan Shanmugasundram Publications for gene: NLRP1 were set to 27965258; 31484767; 27662089; 29850521
Primary immunodeficiency or monogenic inflammatory bowel disease v4.110 NLRP1 Achchuthan Shanmugasundram changed review comment from: There are five unrelated cases with monoallelic NLRP1 variants and three unrelated cases with biallelic NLRP1 variants. Some of these variants are reported to be of gain-of-function.

This gene has been associated with multiple relevant phenotypes in OMIM and Gene2Phenotype (eye panel).; to: There are five unrelated cases with monoallelic NLRP1 variants and three unrelated cases with biallelic NLRP1 variants. Some of these variants are reported to be of gain-of-function.

This gene has been associated with multiple relevant phenotypes in both OMIM and Gene2Phenotype (eye panel).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.110 NLRP1 Achchuthan Shanmugasundram changed review comment from: There are five unrelated cases with monoallelic NLRP1 variants and three unrelated cases with biallelic NLRP1 variants. Some of these variants are reported to be gain-of-function variants.

This gene has been associated with multiple relevant phenotypes in OMIM and Gene2Phenotype (eye panel).; to: There are five unrelated cases with monoallelic NLRP1 variants and three unrelated cases with biallelic NLRP1 variants. Some of these variants are reported to be of gain-of-function.

This gene has been associated with multiple relevant phenotypes in OMIM and Gene2Phenotype (eye panel).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.110 NLRP1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: NLRP1 was changed from None to Other
Primary immunodeficiency or monogenic inflammatory bowel disease v4.109 NLRP1 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: NLRP1.
Tag Q4_23_NHS_review tag was added to gene: NLRP1.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.109 NLRP1 Achchuthan Shanmugasundram commented on gene: NLRP1: There are five unrelated cases with monoallelic NLRP1 variants and three unrelated cases with biallelic NLRP1 variants. Some of these variants are reported to be gain-of-function variants.

This gene has been associated with multiple relevant phenotypes in OMIM and Gene2Phenotype (eye panel).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.109 NLRP1 Achchuthan Shanmugasundram edited their review of gene: NLRP1: Changed mode of pathogenicity: Other
Primary immunodeficiency or monogenic inflammatory bowel disease v4.109 NLRP1 Achchuthan Shanmugasundram edited their review of gene: NLRP1: Changed publications to: 27662089, 27965258, 31484767, 31873740
Primary immunodeficiency or monogenic inflammatory bowel disease v4.109 NLRP1 Achchuthan Shanmugasundram reviewed gene: NLRP1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 27662089, 27965258, 31484767, 3187374; Phenotypes: Autoinflammation with arthritis and dyskeratosis, OMIM:617388, ?Respiratory papillomatosis, juvenile recurrent, congenital, OMIM:618803, Palmoplantar carcinoma, multiple self-healing, OMIM:615225, {Vitiligo-associated multiple autoimmune disease susceptibility 1}, OMIM:606579; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.109 GIMAP5 Achchuthan Shanmugasundram Publications for gene: GIMAP5 were set to 33956074
Primary immunodeficiency or monogenic inflammatory bowel disease v4.108 GIMAP5 Achchuthan Shanmugasundram reviewed gene: GIMAP5: Rating: AMBER; Mode of pathogenicity: None; Publications: 29382851, 33956074; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.108 MAN2B2 Achchuthan Shanmugasundram Phenotypes for gene: MAN2B2 were changed from to congenital disorder of glycosylation, MONDO:0015286
Primary immunodeficiency or monogenic inflammatory bowel disease v4.107 MAN2B2 Achchuthan Shanmugasundram Publications for gene: MAN2B2 were set to PMID: 31775018
Primary immunodeficiency or monogenic inflammatory bowel disease v4.106 MAN2B2 Achchuthan Shanmugasundram Classified gene: MAN2B2 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.106 MAN2B2 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is only one case reported with immunodeficiency (PMID:31775018). The patient reported in PMID:35637269 presented with severe developmental delay and dysmorphic facial features as in the previous case, but do not present with immunodeficiency. Hence, this gene can only be rated red with current evidence.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.106 MAN2B2 Achchuthan Shanmugasundram Gene: man2b2 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.105 MAN2B2 Achchuthan Shanmugasundram edited their review of gene: MAN2B2: Changed publications to: 31775018
Primary immunodeficiency or monogenic inflammatory bowel disease v4.105 MAN2B2 Achchuthan Shanmugasundram reviewed gene: MAN2B2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: congenital disorder of glycosylation, MONDO:0015286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.105 SEC61A1 Achchuthan Shanmugasundram Classified gene: SEC61A1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.105 SEC61A1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated cases in support of the association of this gene with this panel. Hence, this gene can be promoted to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.105 SEC61A1 Achchuthan Shanmugasundram Gene: sec61a1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.104 SEC61A1 Achchuthan Shanmugasundram Phenotypes for gene: SEC61A1 were changed from SEC61A1 deficiency; Severe recurrent respiratory tract infections; Hyperuricemic nephropathy, familial juvenile, 4, 617056; Predominantly Antibody Deficiencies; Severe congenital neutropenia to SEC61A1 deficiency; Severe recurrent respiratory tract infections; Hyperuricemic nephropathy, familial juvenile, 4, 617056; Predominantly Antibody Deficiencies; Hypogammaglobulinaemia; Severe congenital neutropenia
Primary immunodeficiency or monogenic inflammatory bowel disease v4.103 SEC61A1 Achchuthan Shanmugasundram Phenotypes for gene: SEC61A1 were changed from SEC61A1 deficiency; Severe recurrent respiratory tract infections; Hyperuricemic nephropathy, familial juvenile, 4, 617056; Predominantly Antibody Deficiencies to SEC61A1 deficiency; Severe recurrent respiratory tract infections; Hyperuricemic nephropathy, familial juvenile, 4, 617056; Predominantly Antibody Deficiencies; Severe congenital neutropenia
Primary immunodeficiency or monogenic inflammatory bowel disease v4.102 SEC61A1 Achchuthan Shanmugasundram Publications for gene: SEC61A1 were set to 28782633; 32086639; 32048120; 27392076
Primary immunodeficiency or monogenic inflammatory bowel disease v4.101 SEC61A1 Achchuthan Shanmugasundram Mode of inheritance for gene: SEC61A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.100 SEC61A1 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: SEC61A1.
Tag Q4_23_NHS_review tag was added to gene: SEC61A1.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.100 SEC61A1 Achchuthan Shanmugasundram reviewed gene: SEC61A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28782633, 32325141; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.100 CD81 Achchuthan Shanmugasundram Classified gene: CD81 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.100 CD81 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are two unrelated cases and functional evidence available in support of the association of this gene to common variable immunodeficiency (MIM #613496). Hence, this gene can be promoted to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.100 CD81 Achchuthan Shanmugasundram Gene: cd81 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.99 CD81 Achchuthan Shanmugasundram Phenotypes for gene: CD81 were changed from Common variable immunodeficiency disorders (CVID); Immunodeficiency, common variable 6, 613496; hypogammaglobulinaemia; CD81 deficiency; Isolated IgG subclass deficiency; Predominantly Antibody Deficiencies; Recurrent infections, may have glomerulonephritis to Immunodeficiency, common variable, 6, OMIM:613496
Primary immunodeficiency or monogenic inflammatory bowel disease v4.98 CD81 Achchuthan Shanmugasundram Publications for gene: CD81 were set to 27250108; 14530327; 20237408; 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v4.97 CD81 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: CD81.
Tag Q4_23_NHS_review tag was added to gene: CD81.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.97 CD81 Achchuthan Shanmugasundram reviewed gene: CD81: Rating: GREEN; Mode of pathogenicity: None; Publications: 20237408, 25739915, 35849269; Phenotypes: Immunodeficiency, common variable, 6, OMIM:613496; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.97 CD4 Achchuthan Shanmugasundram Classified gene: CD4 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.97 CD4 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are two unrelated cases and functional evidence in support of the association of this gene with this panel. Hence, this gene can be promoted to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.97 CD4 Achchuthan Shanmugasundram Gene: cd4 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.96 CD4 Achchuthan Shanmugasundram Phenotypes for gene: CD4 were changed from Selective CD4 cell deficiency; OKT4 epitope deficiency, 613949; Absence of CD4+ T cells; exuberant, relapsing, treatment-refractory warts to Immunodeficiency 79, OMIM:619238; OKT4 epitope deficiency, OMIM:613949
Primary immunodeficiency or monogenic inflammatory bowel disease v4.95 CD4 Achchuthan Shanmugasundram edited their review of gene: CD4: Changed phenotypes to: Immunodeficiency 79, OMIM:619238, OKT4 epitope deficiency, OMIM:613949
Primary immunodeficiency or monogenic inflammatory bowel disease v4.95 CD4 Achchuthan Shanmugasundram Publications for gene: CD4 were set to 31781092
Primary immunodeficiency or monogenic inflammatory bowel disease v4.94 CD4 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: CD4.
Tag Q4_23_NHS_review tag was added to gene: CD4.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.94 CD4 Achchuthan Shanmugasundram reviewed gene: CD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31781092, 33471124; Phenotypes: Immunodeficiency 79, OMIM:619238; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.94 REL Achchuthan Shanmugasundram Classified gene: REL as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.94 REL Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (two unrelated cases and functional studies) for the promotion of this gene to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.94 REL Achchuthan Shanmugasundram Gene: rel has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.93 REL Achchuthan Shanmugasundram Phenotypes for gene: REL were changed from Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic infections; c-Rel deficiency; Immunodeficiencies affecting cellular and humoral immunity to Immunodeficiency 92, OMIM:619652
Primary immunodeficiency or monogenic inflammatory bowel disease v4.92 REL Achchuthan Shanmugasundram Publications for gene: REL were set to 32086639; 31103457; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v4.91 REL Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: REL.
Tag Q4_23_NHS_review tag was added to gene: REL.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.91 REL Achchuthan Shanmugasundram reviewed gene: REL: Rating: GREEN; Mode of pathogenicity: None; Publications: 31103457, 34623332; Phenotypes: Immunodeficiency 92, OMIM:619652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.91 FCN3 Achchuthan Shanmugasundram Classified gene: FCN3 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.91 FCN3 Achchuthan Shanmugasundram Gene: fcn3 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.90 FCN3 Achchuthan Shanmugasundram Classified gene: FCN3 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.90 FCN3 Achchuthan Shanmugasundram Gene: fcn3 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.89 FCN3 Achchuthan Shanmugasundram Phenotypes for gene: FCN3 were changed from Respiratory infections, abscesses; Immunodeficiency due to ficolin 3 deficiency, 613860; Complement Deficiencies; Ficolin3 deficiency to Immunodeficiency due to ficolin 3 deficiency, OMIM:613860
Primary immunodeficiency or monogenic inflammatory bowel disease v4.88 FCN3 Achchuthan Shanmugasundram Publications for gene: FCN3 were set to 22226667; 32048120; 20971976; 19535802; 25662573; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v4.87 FCN3 Achchuthan Shanmugasundram reviewed gene: FCN3: Rating: AMBER; Mode of pathogenicity: None; Publications: 19535802, 20971976, 22226667, 25662573, 29907670, 31408713, 32634042; Phenotypes: Immunodeficiency due to ficolin 3 deficiency, OMIM:613860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.87 TRAF3IP2 Achchuthan Shanmugasundram Classified gene: TRAF3IP2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.87 TRAF3IP2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Hannah Knight, there is sufficient evidence available for promotion of this gene to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.87 TRAF3IP2 Achchuthan Shanmugasundram Gene: traf3ip2 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.86 TRAF3IP2 Achchuthan Shanmugasundram Phenotypes for gene: TRAF3IP2 were changed from Defects in Intrinsic and Innate Immunity; CMC, blepharitis, folliculitis and macroglossia; Chronic mucocutaneous candidiasis (CMC); Defects in intrinsic and innate immunity; ?Candidiasis, familial, 88 615527 to ?Candidiasis, familial, 8, OMIM:615527; Defects in Intrinsic and Innate Immunity; CMC, blepharitis, folliculitis and macroglossia; Chronic mucocutaneous candidiasis (CMC); Defects in intrinsic and innate immunity
Primary immunodeficiency or monogenic inflammatory bowel disease v4.85 TRAF3IP2 Achchuthan Shanmugasundram Phenotypes for gene: TRAF3IP2 were changed from Defects in Intrinsic and Innate Immunity; CMC, blepharitis, folliculitis and macroglossia; Chronic mucocutaneous candidiasis (CMC); Defects in intrinsic and innate immunity; Candidiasis, familial, 8 615527 to Defects in Intrinsic and Innate Immunity; CMC, blepharitis, folliculitis and macroglossia; Chronic mucocutaneous candidiasis (CMC); Defects in intrinsic and innate immunity; ?Candidiasis, familial, 88 615527
Primary immunodeficiency or monogenic inflammatory bowel disease v4.84 TRAF3IP2 Achchuthan Shanmugasundram Publications for gene: TRAF3IP2 were set to 32048120; 24120361; 32086639; 31292894; 20660351
Primary immunodeficiency or monogenic inflammatory bowel disease v4.83 TRAF3IP2 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: TRAF3IP2.
Tag Q4_23_NHS_review tag was added to gene: TRAF3IP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.83 TFRC Achchuthan Shanmugasundram changed review comment from: Comment on list classification: Although there were eight unrelated families reported with immunodeficiency (MIM #616740), they all harboured the same homozygous variant p.Tyr20His. Functional studies and mouse model provide supporting evidence in associating TFRC with green rating in this panel.

Although this variant is found in a homozygous region that is identified between two different families from different geographic regions in PMID:26642240, the segregation of this variant with the phenotype supports this gene-disease association. Hence, this gene can be promoted to green rating in the next GMS review.; to: Comment on list classification: Although there were eight unrelated families reported with immunodeficiency (MIM #616740), they all harboured the same homozygous variant p.Tyr20His. Functional studies and mouse model provide supporting evidence in associating TFRC with green rating in this panel.

Although this variant is found in a homozygous region that is shared between two different families from different geographic regions reported in PMID:26642240, the segregation of this variant with the phenotype supports this gene-disease association. Hence, this gene can be promoted to green rating in the next GMS review.

The 'founder-effect' tag has also been added to highlight this.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.83 TFRC Achchuthan Shanmugasundram changed review comment from: Comment on list classification: Although there were eight unrelated families reported with immunodeficiency, they all harboured the same homozygous variant p.Tyr20His. Functional studies and mouse model provide supporting evidence in associating TFRC with green rating in this panel.

Although this variant is found in a homozygous region that is identified between two different families from different geographic regions in PMID:26642240, the segregation of this variant with the phenotype supports this gene-disease association. Hence, this gene can be promoted to green rating in the next GMS review.; to: Comment on list classification: Although there were eight unrelated families reported with immunodeficiency (MIM #616740), they all harboured the same homozygous variant p.Tyr20His. Functional studies and mouse model provide supporting evidence in associating TFRC with green rating in this panel.

Although this variant is found in a homozygous region that is identified between two different families from different geographic regions in PMID:26642240, the segregation of this variant with the phenotype supports this gene-disease association. Hence, this gene can be promoted to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.83 TFRC Achchuthan Shanmugasundram Phenotypes for gene: TFRC were changed from Recurrent infections, neutropenia, thrombocytopenia; Recurrent infections, thrombocytopenia; Immunodeficiencies affecting cellular and humoral immunity; Immunodeficiency 46, 616740; T cells: normal number, poor proliferation; B cells: normal number, low memory B cells; recurrent infections, neutorpaenia; thrombocytopaenia to Immunodeficiency 46, OMIM:616740
Primary immunodeficiency or monogenic inflammatory bowel disease v4.82 TFRC Achchuthan Shanmugasundram Publications for gene: TFRC were set to 32086639; 26642240; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v4.81 TFRC Achchuthan Shanmugasundram Classified gene: TFRC as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.81 TFRC Achchuthan Shanmugasundram Added comment: Comment on list classification: Although there were eight unrelated families reported with immunodeficiency, they all harboured the same homozygous variant p.Tyr20His. Functional studies and mouse model provide supporting evidence in associating TFRC with green rating in this panel.

Although this variant is found in a homozygous region that is identified between two different families from different geographic regions in PMID:26642240, the segregation of this variant with the phenotype supports this gene-disease association. Hence, this gene can be promoted to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.81 TFRC Achchuthan Shanmugasundram Gene: tfrc has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.80 TFRC Achchuthan Shanmugasundram changed review comment from: PMID:26642240 - c.58T>C (p.Tyr20His) variant was present in homozygous state in patients A1 and A2 from the family from Kuwait and unaffected father had the same variant in heterozygous state. This variant segregated perfectly with the combined immunodeficiency phenotype in 34 available family members and was absent from multiple variant databases and 731 genotyped controls.

The same homozygous variant was found in patient B1 from Western Saudi Arabian family, while this variant was present in heterozygous state in his parents and his sister. Although the families were from different geographic regions and not known to be related, Patient B1 shares a homozygous haplotype with the five genotyped patients from Family A across a 3.3 Mb interval at chromosome 3q29-ter that includes TFRC, suggesting identical by descent inheritance of the mutation from an unknown common ancestor.

Functional evidence shows that this substitution disrupts the TfR1 internalization motif, resulting in defective receptor endocytosis and markedly increased TfR1 expression on the cell surface. Iron citrate rescued the lymphocyte defects, and expression of wild-type but not mutant TfR1 rescued impaired transferrin uptake in patient-derived fibroblasts.

In addition, transgenic mice homozygous for the human TFRC mutation Y20H were viable and recapitulated the human phenotype.


PMID:32851577 - Eight patients from six different tribes of Arab descent were identified with the same previously reported homozygous variant (p.Tyr20His) and they all presented with recurrent sinopulmonary infections, chronic diarrhea, and failure to thrive in early life.

This gene has been associated with relevant phenotypes in both OMIM (MIM #616740) and Gene2Phenotype (with 'limited' rating in the DD panel).; to: PMID:26642240 - c.58T>C (p.Tyr20His) variant was present in homozygous state in patients A1 and A2 from the family from Kuwait and unaffected father had the same variant in heterozygous state. This variant segregated perfectly with the immunodeficiency phenotype in 34 available family members and was absent from multiple variant databases and 731 genotyped controls.

The same homozygous variant was found in patient B1 from Western Saudi Arabian family, while this variant was present in heterozygous state in his parents and his sister. Although the families were from different geographic regions and not known to be related, Patient B1 shares a homozygous haplotype with the five genotyped patients from Family A across a 3.3 Mb interval at chromosome 3q29-ter that includes TFRC, suggesting identical by descent inheritance of the mutation from an unknown common ancestor.

Functional evidence shows that this substitution disrupts the TfR1 internalization motif, resulting in defective receptor endocytosis and markedly increased TfR1 expression on the cell surface. Iron citrate rescued the lymphocyte defects, and expression of wild-type but not mutant TfR1 rescued impaired transferrin uptake in patient-derived fibroblasts.

In addition, transgenic mice homozygous for the human TFRC mutation Y20H were viable and recapitulated the human phenotype.


PMID:32851577 - Eight patients from six different tribes of Arab descent were identified with the same previously reported homozygous variant (p.Tyr20His) and they all presented with recurrent sinopulmonary infections, chronic diarrhea, and failure to thrive in early life.

This gene has been associated with relevant phenotypes in both OMIM (MIM #616740) and Gene2Phenotype (with 'limited' rating in the DD panel).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.80 TFRC Achchuthan Shanmugasundram Tag founder-effect tag was added to gene: TFRC.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.80 TFRC Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: TFRC.
Tag Q4_23_NHS_review tag was added to gene: TFRC.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.80 TFRC Achchuthan Shanmugasundram reviewed gene: TFRC: Rating: GREEN; Mode of pathogenicity: None; Publications: 26642240, 32851577; Phenotypes: Immunodeficiency 46, OMIM:616740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.80 SPI1 Achchuthan Shanmugasundram Phenotypes for gene: SPI1 were changed from Agammaglobulinemia to Agammaglobulinemia 10, autosomal dominant, OMIM:619707
Primary immunodeficiency or monogenic inflammatory bowel disease v4.79 SPI1 Achchuthan Shanmugasundram Mode of inheritance for gene: SPI1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.78 SPI1 Achchuthan Shanmugasundram Tag watchlist was removed from gene: SPI1.
Tag Q4_23_promote_green tag was added to gene: SPI1.
Tag Q4_23_NHS_review tag was added to gene: SPI1.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.78 SPI1 Achchuthan Shanmugasundram Classified gene: SPI1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.78 SPI1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Hannah Knight, PMID:33951726 is now publicly available online and have six unrelated cases and some functional data in support of the disease association. Hence, this gene can be promoted to green rating in the next GMS review.

The 'watchlist' tag has now been removed as this gene is now recommended for promotion to green rating.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.78 SPI1 Achchuthan Shanmugasundram Gene: spi1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.77 SAMD9L Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: SAMD9L.
Tag Q4_23_NHS_review tag was added to gene: SAMD9L.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.77 SAMD9L Achchuthan Shanmugasundram Classified gene: SAMD9L as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.77 SAMD9L Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Hannah Knight, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.77 SAMD9L Achchuthan Shanmugasundram Gene: samd9l has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.76 SAMD9L Achchuthan Shanmugasundram Mode of inheritance for gene: SAMD9L was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.75 SAMD9L Achchuthan Shanmugasundram reviewed gene: SAMD9L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: autoinflammatory syndrome, MONDO:0019751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.75 SAMD9L Achchuthan Shanmugasundram Publications for gene: SAMD9L were set to 32048120; 28202457; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v4.74 JAK1 Achchuthan Shanmugasundram Classified gene: JAK1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.74 JAK1 Achchuthan Shanmugasundram Gene: jak1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.73 JAK1 Achchuthan Shanmugasundram Phenotypes for gene: JAK1 were changed from Susceptibility to mycobacteria and viruses, urothelial carcinoma; Hypereosinophilic syndrome; Defects in Intrinsic and Innate Immunity; Diseases of Immune Dysregulation; HSM, eosinophilic enteritis, thyroid disease, poor growth, viral infections; HSM, eosinophilia, eosinophilic enteritis, thyroid disease, poor growth, viral infections to Autoinflammation, immune dysregulation, and eosinophilia, OMIM:618999
Primary immunodeficiency or monogenic inflammatory bowel disease v4.72 JAK1 Achchuthan Shanmugasundram Publications for gene: JAK1 were set to 32086639; 28111307; 32048120; 28008925; 30671064; 32750333; 34496019; 35046931
Primary immunodeficiency or monogenic inflammatory bowel disease v4.71 JAK1 Achchuthan Shanmugasundram Publications for gene: JAK1 were set to 32086639; 28111307; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v4.70 JAK1 Achchuthan Shanmugasundram changed review comment from: Comment on mode of pathogenicity: Two of monoallelic variants were shown to be gain-of-function, one is mosaic and the other is somatic. Hence, MOP is set as 'Other'. In addition, 'mosaicsm' and 'somatic' tags were added.; to: Comment on mode of pathogenicity: Two of monoallelic variants were shown to be gain-of-function, one is mosaic and the other is somatic. Hence, MOP is set as 'Other'. In addition, 'mosaicism' and 'somatic' tags were added.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.70 JAK1 Achchuthan Shanmugasundram Tag mosaicism tag was added to gene: JAK1.
Tag somatic tag was added to gene: JAK1.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.70 JAK1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: JAK1 was changed from None to Other
Primary immunodeficiency or monogenic inflammatory bowel disease v4.69 JAK1 Achchuthan Shanmugasundram Added comment: Comment on mode of pathogenicity: Two of monoallelic variants were shown to be gain-of-function, one is mosaic and the other is somatic. Hence, MOP is set as 'Other'. In addition, 'mosaicsm' and 'somatic' tags were added.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.69 JAK1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: JAK1 was changed from Other - please provide details in the comments to None
Primary immunodeficiency or monogenic inflammatory bowel disease v4.68 JAK1 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence available for the association of monoallelic variants in this gene to Autoinflammation, immune dysregulation, and eosinophilia (MIM #618999). However, the evidence for the association of biallelic variants is not sufficient for green rating. Hence, the MOI is set as 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.68 JAK1 Achchuthan Shanmugasundram Mode of inheritance for gene: JAK1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.67 JAK1 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: JAK1.
Tag Q4_23_NHS_review tag was added to gene: JAK1.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.67 JAK1 Achchuthan Shanmugasundram reviewed gene: JAK1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28008925, 28111307, 30671064, 32750333, 34496019, 35046931; Phenotypes: Autoinflammation, immune dysregulation, and eosinophilia, OMIM:618999; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.67 PSMB10 Achchuthan Shanmugasundram Classified gene: PSMB10 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.67 PSMB10 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Hannah Knight, there is sufficient evidence for the promotion of this gene to green rating in this panel.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.67 PSMB10 Achchuthan Shanmugasundram Gene: psmb10 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.66 PSMB10 Achchuthan Shanmugasundram Phenotypes for gene: PSMB10 were changed from Proteasome-associated autoinflammatory syndrome (PRAAS) to Proteasome-associated autoinflammatory syndrome 5, OMIM:619175
Primary immunodeficiency or monogenic inflammatory bowel disease v4.65 PSMB10 Achchuthan Shanmugasundram Publications for gene: PSMB10 were set to 31783057
Primary immunodeficiency or monogenic inflammatory bowel disease v4.64 PSMB10 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: PSMB10.
Tag Q4_23_NHS_review tag was added to gene: PSMB10.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.64 PSMB10 Achchuthan Shanmugasundram reviewed gene: PSMB10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Proteasome-associated autoinflammatory syndrome 5, OMIM:619175; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.64 NFAT5 Achchuthan Shanmugasundram Tag watchlist was removed from gene: NFAT5.
Tag Q4_23_promote_green tag was added to gene: NFAT5.
Tag Q4_23_NHS_review tag was added to gene: NFAT5.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.64 NFAT5 Achchuthan Shanmugasundram Classified gene: NFAT5 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.64 NFAT5 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.64 NFAT5 Achchuthan Shanmugasundram Gene: nfat5 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.63 NFAT5 Achchuthan Shanmugasundram Publications for gene: NFAT5 were set to 32086639; 25667416; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v4.62 NFAT5 Achchuthan Shanmugasundram Mode of inheritance for gene: NFAT5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.61 NFAT5 Achchuthan Shanmugasundram reviewed gene: NFAT5: Rating: GREEN; Mode of pathogenicity: None; Publications: 25667416, 36238298; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.61 IRF4 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: IRF4.
Tag Q4_23_NHS_review tag was added to gene: IRF4.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.61 IRF4 Achchuthan Shanmugasundram Phenotypes for gene: IRF4 were changed from Whipple's disease; [Skin/hair/eye pigmentation, variation in, 8] 611724 to combined immunodeficiency, MONDO:0015131
Primary immunodeficiency or monogenic inflammatory bowel disease v4.60 IRF4 Achchuthan Shanmugasundram Publications for gene: IRF4 were set to 29537367; 31953710
Primary immunodeficiency or monogenic inflammatory bowel disease v4.59 IRF4 Achchuthan Shanmugasundram Classified gene: IRF4 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.59 IRF4 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Hannah Knight, there are two different heterozygous missense variants identified from seven unrelated cases reported with hypogammaglobulinemia/ combined immunodeficiency. In addition, there is supporting functional evidence for these variants. Hence, this gene can be promoted to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.59 IRF4 Achchuthan Shanmugasundram Gene: irf4 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.58 IRF4 Achchuthan Shanmugasundram reviewed gene: IRF4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: combined immunodeficiency, MONDO:0015131; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.57 MCTS1 Boaz Palterer gene: MCTS1 was added
gene: MCTS1 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: MCTS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MCTS1 were set to MSMD; non tubercular mycobacteria infection; BCGtis; BCG infection
Penetrance for gene: MCTS1 were set to Complete
Review for gene: MCTS1 was set to GREEN
Added comment: Human MCTS1-dependent translation of JAK2 is essential for IFN-γ immunity to mycobacteria
https://doi.org/10.1016/j.cell.2023.09.024

Bohlen et al. identified 6 male subjects from 5 kindreds with LOF MCTS-1 variants with MSMD.
Extensive ex-vivo functional validation and mouse model.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v4.57 CBLB Boaz Palterer gene: CBLB was added
gene: CBLB was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: CBLB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CBLB were set to 36006710
Phenotypes for gene: CBLB were set to immunedysregulation; autoimmunity; hypothyroidism; diabetes mellitus type I; vitiligo; urticaria; HLH; ITP; autoimmune hemolytic anemia
Penetrance for gene: CBLB were set to unknown
Review for gene: CBLB was set to RED
Added comment: Janssen et al. described 3 unrelated children with early-onset autoimmunity with homozygous CBLB variants. Patient T cells exhibited hyperproliferation in response to anti-CD3 cross-linking.

Mice homozygous for the CBL-B p.H257L mutation, which corresponds to the patient’s p.H285L mutation, had T and B cell hyperproliferation in response to antigen receptor cross-linking. CblbH257L mice had increased percentages of T regulatory cells (Tregs) that had normal in vitro suppressive function.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v4.57 FGL2 Boaz Palterer gene: FGL2 was added
gene: FGL2 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: FGL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FGL2 were set to 36243222
Phenotypes for gene: FGL2 were set to immunedysregulation; autoimmunity; arthritis; Treg dysfunction; leukocytoclastic vasculitis
Penetrance for gene: FGL2 were set to unknown
Review for gene: FGL2 was set to RED
Added comment: One subject from one kindred with homozygous truncating FGL2 variant. Some in vitro phenotype rescue and mouse model.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v4.56 RELA Achchuthan Shanmugasundram Classified gene: RELA as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.56 RELA Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Hannah Knight, there are at least eight unrelated cases identified with monoallelic RELA variants and reported with chronic mucocutaneous ulceration (MIM #618287). Hence, this gene can be promoted to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.56 RELA Achchuthan Shanmugasundram Gene: rela has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.55 RELA Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: RELA.
Tag Q4_23_NHS_review tag was added to gene: RELA.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.55 RELA Achchuthan Shanmugasundram Publications for gene: RELA were set to 28600438; 32086639; 32048120; 29305315
Primary immunodeficiency or monogenic inflammatory bowel disease v4.54 RELA Achchuthan Shanmugasundram Mode of inheritance for gene: RELA was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.53 FMNL2 Hannah Knight gene: FMNL2 was added
gene: FMNL2 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: FMNL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FMNL2 were set to 34043722
Phenotypes for gene: FMNL2 were set to Severe very early onset inflammatory bowel disease
Review for gene: FMNL2 was set to AMBER
Added comment: PMID: 34043722 reported a patient who presented with severe very early onset inflammatory bowel disease, with a de novo heterozygous FMNL2 variant (p.Leu136Pro)
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v4.53 NFAT5 Hannah Knight reviewed gene: NFAT5: Rating: GREEN; Mode of pathogenicity: None; Publications: 36238298; Phenotypes: NFAT5 haploinsufficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.53 RELA Achchuthan Shanmugasundram Phenotypes for gene: RELA were changed from Autoinflammatory disease, familial, Behcet-like-3, OMIM:618287 to Autoinflammatory disease, familial, Behcet-like-3, OMIM:618287
Primary immunodeficiency or monogenic inflammatory bowel disease v4.52 RELA Achchuthan Shanmugasundram Phenotypes for gene: RELA were changed from Mucocutaneous ulceration, chronic, 618287; RelA haplosufficiency; Mucosal ulceration, impaired NFkB activation; Immunodeficiencies affecting cellular and humoral immunity to Autoinflammatory disease, familial, Behcet-like-3, OMIM:618287
Primary immunodeficiency or monogenic inflammatory bowel disease v4.51 RELA Achchuthan Shanmugasundram reviewed gene: RELA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoinflammatory disease, familial, Behcet-like-3, OMIM:618287; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.51 POLD1 Achchuthan Shanmugasundram Classified gene: POLD1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.51 POLD1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated cases and functional data in support of the association of biallelic POL1D variants with immunodeficiency. Hence, this gene can be promoted to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.51 POLD1 Achchuthan Shanmugasundram Gene: pold1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.50 POLD1 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: POLD1.
Tag Q4_23_NHS_review tag was added to gene: POLD1.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.50 POLD1 Achchuthan Shanmugasundram reviewed gene: POLD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.50 IRF4 Hannah Knight reviewed gene: IRF4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36917008, PMID: 36662884; Phenotypes: ?Whipple's disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.50 MAN2B2 Hannah Knight reviewed gene: MAN2B2: Rating: AMBER; Mode of pathogenicity: None; Publications: 35637269; Phenotypes: Severe developmental delay, dysmorphic facial features, immune dysregulation, developmental delay, stroke; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.50 PSMB10 Hannah Knight reviewed gene: PSMB10: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37600812; Phenotypes: Proteasome-associated autoinflammatory syndrome 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.50 NLRP1 Hannah Knight reviewed gene: NLRP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31873740; Phenotypes: Autoinflammatory disease with corneal and mucosal dyskeratosis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.50 GIMAP5 Hannah Knight reviewed gene: GIMAP5: Rating: AMBER; Mode of pathogenicity: None; Publications: 33956074; Phenotypes: Portal hypertension, noncirrhotic, 2, MIM# 619463; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.50 CD8A Hannah Knight changed review comment from: PMID: 26563160 reported a third patient with this disorder. From consanguineous Portuguese family, with same homozygous variant as previously reported. Not sure whether this is enough to push gene into green category (as same variant, and Portuguese vs Spanish Gypsy heritage); to: PMID: 26563160 reported a third patient with this disorder. From consanguineous Portuguese family, with same homozygous variant as previously reported. Not sure whether this is enough to push gene into green category (as same variant, and Portuguese vs Spanish Gypsy heritage)
PMID mentioned below, but not sure if taken into account as no reference to contents of paper
Primary immunodeficiency or monogenic inflammatory bowel disease v4.50 CD8A Hannah Knight reviewed gene: CD8A: Rating: AMBER; Mode of pathogenicity: None; Publications: 26563160; Phenotypes: CD8 deficiency familial, 608957; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.50 PTPN2 Hannah Knight reviewed gene: PTPN2: Rating: AMBER; Mode of pathogenicity: None; Publications: 32721438; Phenotypes: Very early onset inflammatory bowel disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.50 C2orf69 Achchuthan Shanmugasundram changed review comment from: The OMIM entry for this gene is OMIM:619219, which has been crossed checked with both Ensembl and HGNC. Hence, gene-checked tag has been added.; to: The OMIM entry for this gene is OMIM:619219, which has been cross-checked with both Ensembl and HGNC. Hence, gene-checked tag has been added.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.50 C2orf69 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: C2orf69.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.50 C2orf69 Achchuthan Shanmugasundram commented on gene: C2orf69
Primary immunodeficiency or monogenic inflammatory bowel disease v4.50 IKZF2 Eleanor Williams Tag gene-checked tag was added to gene: IKZF2.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.50 IKZF2 Eleanor Williams commented on gene: IKZF2
Primary immunodeficiency or monogenic inflammatory bowel disease v4.50 TNFRSF9 Arina Puzriakova Phenotypes for gene: TNFRSF9 were changed from CD137 deficiency (41BB); EBV lymphoproliferation, B-cell lymphoma to Immunodeficiency 109 with lymphoproliferation, OMIM:620282
Primary immunodeficiency or monogenic inflammatory bowel disease v4.49 TNFRSF9 Arina Puzriakova Tag gene-checked was removed from gene: TNFRSF9.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.49 MAP3K14 Arina Puzriakova Phenotypes for gene: MAP3K14 were changed from Recessive Atypical Combined Immunodeficiency; Primary Immunodeficiency with Multifaceted Aberrant Lymphoid Immunity; Low NK number and function, recurrent bacterial, viral and Cryptosporidium infections; Immunodeficiencies affecting cellular and humoral immunity to Immunodeficiency 112, OMIM:620449
Primary immunodeficiency or monogenic inflammatory bowel disease v4.48 MAP3K14 Arina Puzriakova Tag gene-checked was removed from gene: MAP3K14.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.48 CR2 Achchuthan Shanmugasundram Tag Q4_23_NHS_review tag was added to gene: CR2.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.48 CXCR2 Achchuthan Shanmugasundram Tag Q4_23_NHS_review tag was added to gene: CXCR2.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.48 IRF2BP2 Achchuthan Shanmugasundram Tag Q4_23_NHS_review tag was added to gene: IRF2BP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.48 HMOX1 Achchuthan Shanmugasundram Tag Q4_23_NHS_review tag was added to gene: HMOX1.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.48 HYOU1 Achchuthan Shanmugasundram Tag Q4_23_NHS_review tag was added to gene: HYOU1.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.48 HYOU1 Achchuthan Shanmugasundram Classified gene: HYOU1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.48 HYOU1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As listed in the review of Hannah Knight, there are three cases reported with biallelic HYOU1 variants and with phagocytic defects and/ or immunodeficiency. Hence, this gene can be promoted to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.48 HYOU1 Achchuthan Shanmugasundram Gene: hyou1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.47 HYOU1 Achchuthan Shanmugasundram Phenotypes for gene: HYOU1 were changed from Hypoglycemia, inflammatory complications; Congenital defects of phagocyte number or function; Immunodeficiency 59 and hypoglycemia, 233600 to ?Immunodeficiency 59 and hypoglycemia, OMIM:233600; Hypoglycemia, inflammatory complications; Congenital defects of phagocyte number or function
Primary immunodeficiency or monogenic inflammatory bowel disease v4.46 HYOU1 Achchuthan Shanmugasundram Publications for gene: HYOU1 were set to 32048120; 32086639; 27913302
Primary immunodeficiency or monogenic inflammatory bowel disease v4.45 HYOU1 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: HYOU1.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.45 HYOU1 Achchuthan Shanmugasundram reviewed gene: HYOU1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Immunodeficiency 59 and hypoglycemia, OMIM:233600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.45 HMOX1 Achchuthan Shanmugasundram Classified gene: HMOX1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.45 HMOX1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As listed in the review of Hannah Knight, there are more than three unrelated cases with biallelic HMOX1 variants reported with asplenia. In addition, recurrent infections, recurrent fever, generalized erythematous rash, hemolysis, inflammation, nephritis, and joint pain were reported in these cases. Hence, this gene can be promoted to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.45 HMOX1 Achchuthan Shanmugasundram Gene: hmox1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.44 HMOX1 Achchuthan Shanmugasundram Deleted their comment
Primary immunodeficiency or monogenic inflammatory bowel disease v4.44 HMOX1 Achchuthan Shanmugasundram Phenotypes for gene: HMOX1 were changed from Hemolysis, nephritis, inflammation; Defects in Intrinsic and Innate Immunity; amyloidosis to Heme oxygenase-1 deficiency, OMIM:614034; Hemolysis, nephritis, inflammation; Defects in Intrinsic and Innate Immunity; amyloidosis
Primary immunodeficiency or monogenic inflammatory bowel disease v4.43 HMOX1 Achchuthan Shanmugasundram Publications for gene: HMOX1 were set to 9884342; 21088618; 22023467; 26526137; 3306677
Primary immunodeficiency or monogenic inflammatory bowel disease v4.42 HMOX1 Achchuthan Shanmugasundram Added comment: Comment on publications: As listed in the review of Hannah Knight, there are more than three unrelated cases with biallelic HMOX1 variants reported with asplenia. In addition, recurrent infections, recurrent fever, generalized erythematous rash, hemolysis, inflammation, nephritis, and joint pain were reported in these cases. Hence, this gene can be promoted to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.42 HMOX1 Achchuthan Shanmugasundram Publications for gene: HMOX1 were set to 9884342; 21088618
Primary immunodeficiency or monogenic inflammatory bowel disease v4.41 HMOX1 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: HMOX1.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.41 HMOX1 Achchuthan Shanmugasundram reviewed gene: HMOX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Heme oxygenase-1 deficiency, OMIM:614034; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.41 FCN3 Hannah Knight changed review comment from: PMID: 32634042 appears to show a new patient with biallelic variants - can't access paper however; to: PMID: 32634042 appears to show a new patient with biallelic variants - can't access paper however
Primary immunodeficiency or monogenic inflammatory bowel disease v4.41 FCN3 Hannah Knight reviewed gene: FCN3: Rating: AMBER; Mode of pathogenicity: None; Publications: 32634042; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.41 CD81 Hannah Knight reviewed gene: CD81: Rating: AMBER; Mode of pathogenicity: None; Publications: 35849269; Phenotypes: Immunodeficiency, common variable, 6; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.41 CD4 Hannah Knight reviewed gene: CD4: Rating: AMBER; Mode of pathogenicity: None; Publications: 33471124; Phenotypes: Immunodeficiency 79; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.41 TRAF3IP2 Hannah Knight reviewed gene: TRAF3IP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34289170, 33825088, 33359359; Phenotypes: ?Candidiasis, familial, 8; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.41 TFRC Hannah Knight reviewed gene: TFRC: Rating: GREEN; Mode of pathogenicity: None; Publications: 32851577; Phenotypes: Immunodeficiency 46; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.41 SEC61A1 Hannah Knight reviewed gene: SEC61A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 32325141; Phenotypes: Severe congenital neutropenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.41 SAMD9L Hannah Knight reviewed gene: SAMD9L: Rating: GREEN; Mode of pathogenicity: None; Publications: 31874111, 36969289; Phenotypes: SAMD9L-associated autoinflammatory disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.41 IRF2BP2 Achchuthan Shanmugasundram Classified gene: IRF2BP2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.41 IRF2BP2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Hannah Knight, there are four unrelated cases in support of the association of monoallelic IRF2BP2 variants with immunodeficiency. Hence, this gene can be promoted to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.41 IRF2BP2 Achchuthan Shanmugasundram Gene: irf2bp2 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.40 IRF2BP2 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: IRF2BP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.40 IRF2BP2 Achchuthan Shanmugasundram reviewed gene: IRF2BP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Immunodeficiency, common variable, 14, OMIM:617765; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.40 REL Hannah Knight reviewed gene: REL: Rating: AMBER; Mode of pathogenicity: None; Publications: 34623332; Phenotypes: Immunodeficiency 92; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.40 POLD3 Hannah Knight gene: POLD3 was added
gene: POLD3 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: POLD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLD3 were set to 37030525
Phenotypes for gene: POLD3 were set to Immunodeficiency with neurodevelopmental delay and hearing loss
Review for gene: POLD3 was set to AMBER
Added comment: PMID: 37030525 - homozygous POLD3 variant (p.Ile10Thr) in a consanguinous Lebanese family, presenting with a syndromic severe combined immunodeficiency (SCID) with neurodevelopmental delay and hearing loss
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v4.40 POLD1 Hannah Knight reviewed gene: POLD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33140240; Phenotypes: Polymerase d 1 deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.40 CXCR2 Achchuthan Shanmugasundram Classified gene: CXCR2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.40 CXCR2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Hannah Knight, there are five unrelated cases with biallelic CXCR2 variants. Hence, this gene can be promoted to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.40 CXCR2 Achchuthan Shanmugasundram Gene: cxcr2 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.39 CXCR2 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: CXCR2.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.39 CXCR2 Achchuthan Shanmugasundram reviewed gene: CXCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ?WHIM syndrome 2, OMIM:619407; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.39 CR2 Achchuthan Shanmugasundram edited their review of gene: CR2: Changed phenotypes to: ?Immunodeficiency, common variable, 7, OMIM:614699
Primary immunodeficiency or monogenic inflammatory bowel disease v4.39 CR2 Achchuthan Shanmugasundram Phenotypes for gene: CR2 were changed from Immunodeficiency, common variable, 7, 614699; Lupus; Immunodeficiency, common variable, 7; Common variable immunodeficiency disorders (CVID); Isolated IgG subclass deficiency; hypogammaglobulinaemia; Recurrent infections; Predominantly Antibody Deficiencies to ?Immunodeficiency, common variable, 7, OMIM:614699
Primary immunodeficiency or monogenic inflammatory bowel disease v4.38 CR2 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: CR2.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.38 CR2 Achchuthan Shanmugasundram Classified gene: CR2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.38 CR2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Hannah Knight, there are three unrelated cases in support of the association of CR2 to immunodeficiency. Hence, this gene can be promoted to Green in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.38 CR2 Achchuthan Shanmugasundram Gene: cr2 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.37 CR2 Achchuthan Shanmugasundram reviewed gene: CR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Immunodeficiency, common variable, 7, OMIM: 614699; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.37 TLR7 Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: TLR7.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.37 TBX1 Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: TBX1.
Tag Q1_23_NHS_review was removed from gene: TBX1.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.37 IRF7 Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: IRF7.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.37 IKZF2 Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: IKZF2.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.37 C2orf69 Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: C2orf69.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.37 ALPK1 Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: ALPK1.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.37 TLR7 Arina Puzriakova edited their review of gene: TLR7: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.37 TBX1 Arina Puzriakova commented on gene: TBX1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.37 IRF7 Arina Puzriakova edited their review of gene: IRF7: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v4.37 IKZF2 Arina Puzriakova edited their review of gene: IKZF2: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v4.37 C2orf69 Arina Puzriakova edited their review of gene: C2orf69: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v4.37 ALPK1 Arina Puzriakova edited their review of gene: ALPK1: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v4.36 TLR7 Achchuthan Shanmugasundram Source Expert Review Green was added to TLR7.
Source NHS GMS was added to TLR7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.36 TBX1 Achchuthan Shanmugasundram Source Expert Review Green was added to TBX1.
Source NHS GMS was added to TBX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.36 IRF7 Achchuthan Shanmugasundram Source Expert Review Green was added to IRF7.
Source NHS GMS was added to IRF7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.36 IKZF2 Achchuthan Shanmugasundram Source Expert Review Green was added to IKZF2.
Source NHS GMS was added to IKZF2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.36 C2orf69 Achchuthan Shanmugasundram Source Expert Review Green was added to C2orf69.
Source NHS GMS was added to C2orf69.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.36 ALPK1 Achchuthan Shanmugasundram Source Expert Review Green was added to ALPK1.
Source NHS GMS was added to ALPK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.35 SPI1 Hannah Knight reviewed gene: SPI1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33951726; Phenotypes: Agammaglobulinemia 10, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.35 RELA Hannah Knight reviewed gene: RELA: Rating: GREEN; Mode of pathogenicity: None; Publications: 28600438, 29305315, 32969189, 35412596, 36926348; Phenotypes: Autoinflammatory disease, familial, Behcet-like-3; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.35 JAK1 Hannah Knight changed review comment from: Now four families reported, and variants seem to cluster.
PMID: 28111307 - mother and two sons with immune disorder. De novo variant in mother, also in both children (p.A634D)
PMID: 32750333 - early-onset multi-organ immune dysregulation resulting from a mosaic variant not found in either parent (p.S703I)
PMID: 34496019 - somatic variant found in a patient with hypereosinophilia (p.R629_S632delinsSA)
PMID: 35046931 - novel variant (p.H596D) in an individual with a unique autoinflammatory keratinization disease

Also one report of biallelic disease in 2016 (PMID: 28008925), but none others since then; to: Now four families reported, and variants seem to cluster.
PMID: 28111307 - mother and two sons with immune disorder. De novo variant in mother, also in both children (p.A634D)
PMID: 32750333 - early-onset multi-organ immune dysregulation resulting from a mosaic variant not found in either parent (p.S703I)
PMID: 34496019 - somatic variant found in a patient with hypereosinophilia (p.R629_S632delinsSA)
PMID: 35046931 - novel variant (p.H596D) in an individual with a unique autoinflammatory keratinization disease

Also one report of biallelic disease in 2016 (PMID: 28008925), but none others since then
Primary immunodeficiency or monogenic inflammatory bowel disease v4.35 JAK1 Hannah Knight reviewed gene: JAK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28111307, 32750333, 34496019, 35046931; Phenotypes: Autoinflammation, immune dysregulation, and eosinophilia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.35 IRF2BP2 Hannah Knight reviewed gene: IRF2BP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27016798, 33864888, 34451894, 36193988; Phenotypes: ?Immunodeficiency, common variable, 14; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.35 HYOU1 Hannah Knight reviewed gene: HYOU1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27913302, 35549617, 35822684; Phenotypes: ?Immunodeficiency 59 and hypoglycemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.35 HMOX1 Hannah Knight reviewed gene: HMOX1: Rating: AMBER; Mode of pathogenicity: None; Publications: 3306677, 9884342, 21088618, 22023467, 26526137; Phenotypes: Heme oxygenase-1 deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.35 CXCR2 Hannah Knight reviewed gene: CXCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24777453, 34854278; Phenotypes: ?WHIM syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.35 CR2 Hannah Knight reviewed gene: CR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22035880, 26325596, 28499783; Phenotypes: Immunodeficiency, common variable, 7; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.35 DIAPH1 Achchuthan Shanmugasundram Classified gene: DIAPH1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.35 DIAPH1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating at the next major update.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.35 DIAPH1 Achchuthan Shanmugasundram Gene: diaph1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.34 DIAPH1 Achchuthan Shanmugasundram Phenotypes for gene: DIAPH1 were changed from microcephaly; epilepsy; cortical blindness; poor lymphocyte activation and proliferation, defective B-cell maturation, and lack of naive T cells. to Seizures, cortical blindness, microcephaly syndrome, OMIM:616632
Primary immunodeficiency or monogenic inflammatory bowel disease v4.33 DIAPH1 Achchuthan Shanmugasundram Publications for gene: DIAPH1 were set to PMID: 35748970; PMID: 33662367
Primary immunodeficiency or monogenic inflammatory bowel disease v4.32 DIAPH1 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: DIAPH1.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.32 DIAPH1 Achchuthan Shanmugasundram reviewed gene: DIAPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33662367; Phenotypes: Seizures, cortical blindness, microcephaly syndrome, OMIM:616632; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.32 OTULIN Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: As reviewed by Boaz Palterer, there is sufficient evidence for the association of monoallelic OTULIN variants to immunodeficiency. Hence, the MOI should be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.32 OTULIN Achchuthan Shanmugasundram Mode of inheritance for gene: OTULIN was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.31 OTULIN Achchuthan Shanmugasundram Phenotypes for gene: OTULIN were changed from Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099; Fever, diarrhoea, dermatitis; Autoinflammatory Disorders to {Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection}, OMIM:619986; Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099
Primary immunodeficiency or monogenic inflammatory bowel disease v4.30 OTULIN Achchuthan Shanmugasundram Publications for gene: OTULIN were set to 27559085; 27523608
Primary immunodeficiency or monogenic inflammatory bowel disease v4.29 OTULIN Achchuthan Shanmugasundram Tag Q3_23_MOI tag was added to gene: OTULIN.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.29 OTULIN Achchuthan Shanmugasundram reviewed gene: OTULIN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection}, OMIM:619986, Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.29 DOCK11 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: DOCK11.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.29 DOCK11 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.; to: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.29 DOCK11 Achchuthan Shanmugasundram Classified gene: DOCK11 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.29 DOCK11 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.29 DOCK11 Achchuthan Shanmugasundram Gene: dock11 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.28 DOCK11 Achchuthan Shanmugasundram Phenotypes for gene: DOCK11 were changed from early-onset autoimmunity; cytopenia; systemic lupus erythematosus; dermatitis; enteropathy to Autoinflammatory disease, multisystem, with immune dysregulation, X-linked, OMIM:301109
Primary immunodeficiency or monogenic inflammatory bowel disease v4.27 DOCK11 Achchuthan Shanmugasundram Publications for gene: DOCK11 were set to 36952639
Primary immunodeficiency or monogenic inflammatory bowel disease v4.26 DOCK11 Achchuthan Shanmugasundram reviewed gene: DOCK11: Rating: GREEN; Mode of pathogenicity: None; Publications: 36952639, 37342957; Phenotypes: Autoinflammatory disease, multisystem, with immune dysregulation, X-linked, OMIM:301109; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Primary immunodeficiency or monogenic inflammatory bowel disease v4.26 ARPC5 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: ARPC5.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.26 ARPC5 Achchuthan Shanmugasundram Classified gene: ARPC5 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.26 ARPC5 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are at least three unrelated cases and supporting functional evidence available for the association of this gene with immunodeficiency. Hence, this gene can be promoted to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.26 ARPC5 Achchuthan Shanmugasundram Gene: arpc5 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.25 ARPC5 Achchuthan Shanmugasundram Phenotypes for gene: ARPC5 were changed from immunodeficiency; autoimmunity; inflammation; dysmorphisms; impaired wound healing; scoliosis; pneumatoceles; anemia to combined immunodeficiency, MONDO:0015131
Primary immunodeficiency or monogenic inflammatory bowel disease v4.24 ARPC5 Achchuthan Shanmugasundram Publications for gene: ARPC5 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v4.23 ARPC5 Achchuthan Shanmugasundram edited their review of gene: ARPC5: Changed phenotypes to: combined immunodeficiency, MONDO:0015131
Primary immunodeficiency or monogenic inflammatory bowel disease v4.23 ARPC5 Achchuthan Shanmugasundram reviewed gene: ARPC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 37349293, 37382373; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.23 ALPK1 Sarah Leigh Publications for gene: ALPK1 were set to 35868845
Primary immunodeficiency or monogenic inflammatory bowel disease v4.22 EZR Boaz Palterer gene: EZR was added
gene: EZR was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: EZR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EZR were set to 37301410
Phenotypes for gene: EZR were set to hypogammaglobulinemia; immunodeficiency
Penetrance for gene: EZR were set to unknown
Review for gene: EZR was set to RED
Added comment: One kindred with 1 affected subject (homozygous EZR p.A129T), disease segregates with the variant. Extensive functional analysis.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v4.22 MECOM Boaz Palterer gene: MECOM was added
gene: MECOM was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: MECOM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MECOM were set to 37407873
Phenotypes for gene: MECOM were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738; Hypocellular bone marrow; congenital thrombocytopenia; B-cell lymphopenia; hypogammaglobulinemia; radioulnar synostosis; digit abnormalities; clubfoot; cardiac defects; facial dysmorphism
Penetrance for gene: MECOM were set to unknown
Review for gene: MECOM was set to GREEN
Added comment: Bone marrow failure syndrome included in the 2022 IUIS IEI classification. A subset of patients presents B cell deficiency and hypogammaglobulinemia. The phenotype is relevant for the panel.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v4.22 OTULIN Boaz Palterer reviewed gene: OTULIN: Rating: ; Mode of pathogenicity: None; Publications: 35587511; Phenotypes: life-threatening staphylococcal disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary immunodeficiency or monogenic inflammatory bowel disease v4.22 ARPC5 Boaz Palterer gene: ARPC5 was added
gene: ARPC5 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: ARPC5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARPC5 were set to immunodeficiency; autoimmunity; inflammation; dysmorphisms; impaired wound healing; scoliosis; pneumatoceles; anemia
Penetrance for gene: ARPC5 were set to unknown
Review for gene: ARPC5 was set to GREEN
Added comment: Nunes-Santos et al. described 2 unrelated patients from 2 kindreds woith germline biallelic null mutations in ARPC5 presenting with a complex actinopathy phenotype of increased susceptibility to infections, autoimmunity, inflammation, and dysmorphisms.
There is strong biological rationale: ARPC5 is part of the Arp2/3 complex, related to WAS in Wiskott-Aldrich syndrome and ARPC1B deficiency. Strong functional ex vivo and in vitro data is presented.
( https://doi.org/10.1038/s41467-023-39272-0 )
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v4.22 DOCK11 Boaz Palterer gene: DOCK11 was added
gene: DOCK11 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: DOCK11 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: DOCK11 were set to 36952639
Phenotypes for gene: DOCK11 were set to early-onset autoimmunity; cytopenia; systemic lupus erythematosus; dermatitis; enteropathy
Penetrance for gene: DOCK11 were set to unknown
Review for gene: DOCK11 was set to GREEN
Added comment: Boussard et al. described 8 male patients, from 7 unrelated families, with hemizygous DOCK11 missense variants leading to reduced DOCK11 expression. The patients presented with early-onset autoimmunity, including cytopenia, systemic lupus erythematosus, skin, and digestive manifestations. Extensive ex vivo and in vitro functional validation.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v4.22 SRP72 Lauma Freimane gene: SRP72 was added
gene: SRP72 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature,Research
Mode of inheritance for gene: SRP72 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SRP72 were set to 32098966
Phenotypes for gene: SRP72 were set to Familial MDS/AML; inherited bone marrow failure syndromes (IBMFS); congenital neutropenia; Shwachman-Diamond syndrome
Primary immunodeficiency or monogenic inflammatory bowel disease v4.22 TLR7 Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: TLR7.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.22 TLR7 Achchuthan Shanmugasundram Added comment: Comment on mode of pathogenicity: As reviewed by Boaz Palterer, gain-of-function variants are associated with systemic lupus erythematosus.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.22 TLR7 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TLR7 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Primary immunodeficiency or monogenic inflammatory bowel disease v4.21 TLR7 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Boaz Palterer, there are three unrelated cases and functional evidence from mouse models in support of the association of X-linked dominant variants from TLR7 gene to Systemic lupus erythematosus. Hence, this gene can be promoted to GREEN rating at the next major update.; to: Comment on list classification: As reviewed by Boaz Palterer, there are three unrelated cases and functional evidence from mouse models in support of the association of X-linked dominant variants from TLR7 gene to systemic lupus erythematosus. Hence, this gene can be promoted to GREEN rating at the next major update.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.21 TLR7 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There are three cases and supporting functional evidence available for systemic lupus erythematosus caused by X-linked dominant variants. However, there are only two unrelated cases in support of COVID19-related immunodeficiency caused by X-linked recessive variants. Hence, the MOI should be updated from "X-LINKED: hemizygous mutation in males, biallelic mutations in females" to "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)".
Primary immunodeficiency or monogenic inflammatory bowel disease v4.21 TLR7 Achchuthan Shanmugasundram Mode of inheritance for gene: TLR7 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.20 TLR7 Achchuthan Shanmugasundram Classified gene: TLR7 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.20 TLR7 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Boaz Palterer, there are three unrelated cases and functional evidence from mouse models in support of the association of X-linked dominant variants from TLR7 gene to Systemic lupus erythematosus. Hence, this gene can be promoted to GREEN rating at the next major update.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.20 TLR7 Achchuthan Shanmugasundram Gene: tlr7 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.19 TLR7 Achchuthan Shanmugasundram Phenotypes for gene: TLR7 were changed from Immunodeficiency 74, COVID19-related, X-linked, MIM# 301051 to Systemic lupus erythematosus 17, OMIM:301080; Immunodeficiency 74, COVID19-related, X-linked, OMIM:301051
Primary immunodeficiency or monogenic inflammatory bowel disease v4.18 TLR7 Achchuthan Shanmugasundram Publications for gene: TLR7 were set to 32706371
Primary immunodeficiency or monogenic inflammatory bowel disease v4.17 TLR7 Achchuthan Shanmugasundram reviewed gene: TLR7: Rating: GREEN; Mode of pathogenicity: None; Publications: 32706371, 35477763; Phenotypes: Systemic lupus erythematosus 17, OMIM:301080, Immunodeficiency 74, COVID19-related, X-linked, OMIM:301051; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.17 IRF7 Arina Puzriakova Classified gene: IRF7 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.17 IRF7 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. At least 7 families reported. Individuals with biallelic variants in the IRF7 gene appear more prone to viral infections of the respiratory tract.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.17 IRF7 Arina Puzriakova Gene: irf7 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.16 IRF7 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: IRF7.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.16 IRF7 Arina Puzriakova Phenotypes for gene: IRF7 were changed from Severe influenza; Defects in Intrinsic and Innate Immunity; IRF7 deficiency; ?Immunodeficiency 39, 616345; Severe influenza disease to Immunodeficiency 39 , OMIM:616345
Primary immunodeficiency or monogenic inflammatory bowel disease v4.15 COPG1 Arina Puzriakova Publications for gene: COPG1 were set to PMID: 35748970; PMID: 33529166
Primary immunodeficiency or monogenic inflammatory bowel disease v4.14 COPG1 Arina Puzriakova Classified gene: COPG1 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.14 COPG1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Inga Nartisa. Not yet associated with any phenotype in OMIM or G2P. Only a single family reported to date with a homozygous variant (p.K652E) in this gene (PMID: 33529166). Five affected siblings presented with persistent bacterial and viral infections and defective humoral and cellular immunity. Some functional studies including a mouse model. However, as only a single case has been identified rating as Red for now, awaiting further cases/reports that corroborate this association.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.14 COPG1 Arina Puzriakova Gene: copg1 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.13 CHUK Arina Puzriakova Publications for gene: CHUK were set to PMID: 35748970; PMID: 34533979
Primary immunodeficiency or monogenic inflammatory bowel disease v4.12 CHUK Arina Puzriakova Classified gene: CHUK as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.12 CHUK Arina Puzriakova Added comment: Comment on list classification: New gene added by Inga Nartisa. Biallelic variants are typically associated with Cocoon syndrome (MIM# 613630; definitive in G2P) or Popliteal pterygium syndrome (MIM# 619339), but immune deficits are not known to be associated. Only a single patient with a history of recurrent pneumonias and failure to thrive identified to date with a homozygous variant in this gene (PMID: 34533979). Therefore, rating Red for now, awaiting further cases/reports that corroborate this association.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.12 CHUK Arina Puzriakova Gene: chuk has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.11 BLM Arina Puzriakova Phenotypes for gene: BLM were changed from Bloom syndrome, 210900; Immunodeficiency; Short stature, dysmorphic facies, sun-sensitive erythema, marrow failure, leukemia, lymphoma, chromosomal instability; Combined immunodeficiencies with associated or syndromic features to Bloom syndrome, OMIM:210900; Immunodeficiency; Short stature, dysmorphic facies, sun-sensitive erythema, marrow failure, leukemia, lymphoma, chromosomal instability; Combined immunodeficiencies with associated or syndromic features
Primary immunodeficiency or monogenic inflammatory bowel disease v4.10 RHBDF2 Arina Puzriakova Publications for gene: RHBDF2 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v4.9 RHBDF2 Arina Puzriakova Classified gene: RHBDF2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.9 RHBDF2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Boaz Palterer. Not yet associated with an immune phenotype in OMIM or G2P, but note that monoallelic variants in this gene are associated with tylosis.

To date, 4 individuals from 2 unrelated families have been reported (PMID: 34937930) with LoF variants in this gene and recurrent infections. Functional data includes supportive mouse model.

Rating Amber for now awaiting at least one more corroborating case (added watchlist tag)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.9 RHBDF2 Arina Puzriakova Gene: rhbdf2 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.8 IKZF2 Arina Puzriakova Classified gene: IKZF2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.8 IKZF2 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at then next GMS panel update. At least 6 unrelated families reported with variable features of immune dysregulation who harbour different deleterious heterozygous variants in the IKZF2 gene.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.8 IKZF2 Arina Puzriakova Gene: ikzf2 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.7 IKZF2 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: IKZF2.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.7 IKZF2 Arina Puzriakova Publications for gene: IKZF2 were set to 34826260
Primary immunodeficiency or monogenic inflammatory bowel disease v4.6 C2orf69 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: C2orf69.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.6 C2orf69 Arina Puzriakova Classified gene: C2orf69 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.6 C2orf69 Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Boaz Palterer (University of Florence). Associated with a relevant phenotype in OMIM (MIM# 619423) but is not yet listed in G2P. At least 13 unrelated families reported in literature (PMIDs: 33945503; 34038740). Sufficient cases plus zebrafish model to promote this gene to green at the next GMS panel update.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.6 C2orf69 Arina Puzriakova Gene: c2orf69 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.5 C2orf69 Arina Puzriakova Phenotypes for gene: C2orf69 were changed from hypomyelination; microcephaly; liver dysfunction; autoinflammation; leukoencephalopathy to Combined oxidative phosphorylation deficiency 53, OMIM:619423
Primary immunodeficiency or monogenic inflammatory bowel disease v4.4 ATAD3A Arina Puzriakova Classified gene: ATAD3A as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.4 ATAD3A Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Boaz Palterer (University of Florence). Although the Lepelley et al. 2021 (PMID: 34387651) paper described multiple patients with interferon signalling disturbances it does not appear likely that this would form the basis for diagnostic testing in a clinical setting. ATAD3A is associated with a wide spectrum of clinical features but immune phenotypes do not appear particularly prominent. However, as two patients in PMID: 34387651 did demonstrate signs consistent with standardised criteria for a diagnosis of the autoimmune disorder systemic sclerosis, rating Amber for now awaiting further evidence supporting inclusion on this panel.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.4 ATAD3A Arina Puzriakova Gene: atad3a has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.3 ALPK1 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: ALPK1.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.3 ALPK1 Arina Puzriakova Classified gene: ALPK1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.3 ALPK1 Arina Puzriakova Added comment: Comment on list classification: This gene is associated with a phenotype in OMIM and Gene2Phenotype (Strong). There is enough evidence to support a gene-disease association - recurrent infections present in some. This gene should be rated Green at the next review.

PMID: 35868845 - 27 patients with ROSAH syndrome, in vitro assays and systematic analysis demonstrated inflammatory features establishing ROSAH as autoinflammatory disease.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.3 ALPK1 Arina Puzriakova Gene: alpk1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.2 ALPK1 Arina Puzriakova Phenotypes for gene: ALPK1 were changed from ROSAH syndrome to ROSAH syndrome, OMIM:614979
Primary immunodeficiency or monogenic inflammatory bowel disease v4.1 Catherine Snow Panel version 4.0 has been signed off on 2023-03-22
Primary immunodeficiency or monogenic inflammatory bowel disease v4.0 Catherine Snow promoted panel to version 4.0
Primary immunodeficiency or monogenic inflammatory bowel disease v3.9 STAT6 Dmitrijs Rots reviewed gene: STAT6: Rating: GREEN; Mode of pathogenicity: None; Publications: 36884218; Phenotypes: Eosinophilia, severe allergy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v3.9 TBX1 Arina Puzriakova Publications for gene: TBX1 were set to 11242110; 32048120; 32086639; 14585638; 24198816; 12548732
Primary immunodeficiency or monogenic inflammatory bowel disease v3.8 TBX1 Arina Puzriakova Classified gene: TBX1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v3.8 TBX1 Arina Puzriakova Added comment: Comment on list classification: Following consultation with Helen Brittain (Genomics England Clinical Team) it was agreed that there is sufficient evidence to promote this gene to Green on this panel (at least three cases of immune involvement) at the next GMS panel update.
Primary immunodeficiency or monogenic inflammatory bowel disease v3.8 TBX1 Arina Puzriakova Gene: tbx1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v3.7 TBX1 Arina Puzriakova Phenotypes for gene: TBX1 were changed from Hypoparathyroidism, conotruncal cardiac malformation, velopalatal insufficiency, abnormal facies, intellectual disability; Di George syndrome; Severe combined immunodeficiency (SCID); DiGeorge syndrome 188400; T-B+ SCID; Combined immunodeficiencies with associated or syndromic features to DiGeorge syndrome, OMIM:188400; Conotruncal anomaly face syndrome, OMIM:217095; Velocardiofacial syndrome, OMIM:192430
Primary immunodeficiency or monogenic inflammatory bowel disease v3.6 TBX1 Arina Puzriakova Tag Q1_23_promote_green tag was added to gene: TBX1.
Primary immunodeficiency or monogenic inflammatory bowel disease v3.6 TBX1 Arina Puzriakova reviewed gene: TBX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14585638, 17273972, 30137364; Phenotypes: DiGeorge syndrome, OMIM:188400, Conotruncal anomaly face syndrome, OMIM:217095, Velocardiofacial syndrome, OMIM:192430; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary immunodeficiency or monogenic inflammatory bowel disease v3.6 IL23R Dmitrijs Rots reviewed gene: IL23R: Rating: GREEN; Mode of pathogenicity: None; Publications: 36763636; Phenotypes: Mendelian susceptibility to mycobacterial disease (MSMD), chronic mucocutaneous candidiasis (CMC); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v3.6 TLN1 Achchuthan Shanmugasundram changed review comment from: PMID:35861643 reported a 20-year old man of Mexican ancestry with a complex phenotype including thrombocytopenia, T lymphopenia, and low IgG levels. The patient had an absolute lymphocyte counts <1000/mcL and low absolute T-cells. Recent B-cell subset analysis revealed 96% naïve and 4% switched memory B-cells and initial serum immunoglobulin levels at six years of age included: IgG 273, IgA 130, IgM 36. Because of poor antibody responses to pneumococcal vaccine, he was started on immunoglobulin replacement therapy, which he has continued to the present.

He continued to experienced intermittent sinusitis, otitis media and bronchitis since 10 years of age, which cleared with oral antibiotics. At 18 years of age, he had abdominal pain at times that was diagnosed as small intestinal bacterial overgrowth, headaches often treated as migraines, and joint pain with limited signs of active arthritis.

He was identified with a de novo heterozygous variant c.685C > T (p.Pro 229 Ser) that was not present in his parents.
Sources: Literature; to: PMID:35861643 reported a 20-year old man of Mexican ancestry with a complex phenotype including thrombocytopenia, T lymphopenia, and low IgG levels. The patient had an absolute lymphocyte count of <1000/mcL and low absolute T-cells. Recent B-cell subset analysis revealed 96% naïve and 4% switched memory B-cells and initial serum immunoglobulin levels at six years of age included: IgG 273, IgA 130, IgM 36. Because of poor antibody responses to pneumococcal vaccine, he was started on immunoglobulin replacement therapy, which he has continued to the present.

He continued to experienced intermittent sinusitis, otitis media and bronchitis since 10 years of age, which cleared with oral antibiotics. At 18 years of age, he had abdominal pain at times that was diagnosed as small intestinal bacterial overgrowth, headaches often treated as migraines, and joint pain with limited signs of active arthritis.

He was identified with a de novo heterozygous variant c.685C > T (p.Pro 229 Ser) that was not present in his parents.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v3.6 TLN1 Achchuthan Shanmugasundram gene: TLN1 was added
gene: TLN1 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: TLN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TLN1 were set to 35861643
Phenotypes for gene: TLN1 were set to lymphopenia, MONDO:0003783
Review for gene: TLN1 was set to RED
Added comment: PMID:35861643 reported a 20-year old man of Mexican ancestry with a complex phenotype including thrombocytopenia, T lymphopenia, and low IgG levels. The patient had an absolute lymphocyte counts <1000/mcL and low absolute T-cells. Recent B-cell subset analysis revealed 96% naïve and 4% switched memory B-cells and initial serum immunoglobulin levels at six years of age included: IgG 273, IgA 130, IgM 36. Because of poor antibody responses to pneumococcal vaccine, he was started on immunoglobulin replacement therapy, which he has continued to the present.

He continued to experienced intermittent sinusitis, otitis media and bronchitis since 10 years of age, which cleared with oral antibiotics. At 18 years of age, he had abdominal pain at times that was diagnosed as small intestinal bacterial overgrowth, headaches often treated as migraines, and joint pain with limited signs of active arthritis.

He was identified with a de novo heterozygous variant c.685C > T (p.Pro 229 Ser) that was not present in his parents.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v3.5 TBX1 Arina Puzriakova Tag Q1_23_NHS_review tag was added to gene: TBX1.
Primary immunodeficiency or monogenic inflammatory bowel disease v3.5 DCLRE1B Achchuthan Shanmugasundram Tag gene-checked was removed from gene: DCLRE1B.
Primary immunodeficiency or monogenic inflammatory bowel disease v3.5 DCLRE1B Achchuthan Shanmugasundram Phenotypes for gene: DCLRE1B were changed from Hoyeraal-Hreidarsson syndrome; Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients; Combined immunodeficiencies with associated or syndromic features to Dyskeratosis congenita, autosomal recessive 8, OMIM:620133
Primary immunodeficiency or monogenic inflammatory bowel disease v3.4 TLR8 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: TLR8.
Primary immunodeficiency or monogenic inflammatory bowel disease v3.4 IKBKB Achchuthan Shanmugasundram Tag Q3_22_MOI was removed from gene: IKBKB.
Primary immunodeficiency or monogenic inflammatory bowel disease v3.4 IFNAR2 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: IFNAR2.
Primary immunodeficiency or monogenic inflammatory bowel disease v3.4 FOXN1 Achchuthan Shanmugasundram Tag Q3_22_MOI was removed from gene: FOXN1.
Primary immunodeficiency or monogenic inflammatory bowel disease v3.4 PRIM1 Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: PRIM1.
Primary immunodeficiency or monogenic inflammatory bowel disease v3.4 FASLG Achchuthan Shanmugasundram Tag Q2_22_MOI was removed from gene: FASLG.
Primary immunodeficiency or monogenic inflammatory bowel disease v3.4 AGR2 Achchuthan Shanmugasundram Tag Q1_22_rating was removed from gene: AGR2.
Primary immunodeficiency or monogenic inflammatory bowel disease v3.4 UBA1 Achchuthan Shanmugasundram Tag Q2_22_rating was removed from gene: UBA1.
Tag Q2_22_expert_review was removed from gene: UBA1.
Tag Q2_22_NHS_review was removed from gene: UBA1.
Primary immunodeficiency or monogenic inflammatory bowel disease v3.4 TLR8 Achchuthan Shanmugasundram reviewed gene: TLR8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v3.4 IKBKB Achchuthan Shanmugasundram commented on gene: IKBKB
Primary immunodeficiency or monogenic inflammatory bowel disease v3.4 IFNAR2 Achchuthan Shanmugasundram reviewed gene: IFNAR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v3.4 FOXN1 Achchuthan Shanmugasundram commented on gene: FOXN1
Primary immunodeficiency or monogenic inflammatory bowel disease v3.4 PRIM1 Achchuthan Shanmugasundram reviewed gene: PRIM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v3.4 FASLG Achchuthan Shanmugasundram commented on gene: FASLG
Primary immunodeficiency or monogenic inflammatory bowel disease v3.4 AGR2 Achchuthan Shanmugasundram reviewed gene: AGR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v3.4 UBA1 Achchuthan Shanmugasundram reviewed gene: UBA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v3.3 TLR8 Achchuthan Shanmugasundram Source Expert Review Green was added to TLR8.
Source NHS GMS was added to TLR8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v3.3 PRIM1 Achchuthan Shanmugasundram Source Expert Review Green was added to PRIM1.
Source NHS GMS was added to PRIM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v3.3 IKBKB Achchuthan Shanmugasundram Mode of inheritance for gene IKBKB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v3.3 IFNAR2 Achchuthan Shanmugasundram Source Expert Review Green was added to IFNAR2.
Source NHS GMS was added to IFNAR2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v3.3 FOXN1 Achchuthan Shanmugasundram Mode of inheritance for gene FOXN1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v3.3 FASLG Achchuthan Shanmugasundram Mode of inheritance for gene FASLG was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v3.3 AGR2 Achchuthan Shanmugasundram Source Expert Review Green was added to AGR2.
Source NHS GMS was added to AGR2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v3.2 IKZF2 Dmitrijs Rots reviewed gene: IKZF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34826260, 34920454; Phenotypes: Immunodeficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v3.2 STAT5B Arina Puzriakova Phenotypes for gene: STAT5B were changed from Growth hormone insensitivity with immunodeficiency 245590; T-B+ SCID; Combined immunodeficiency; Growth-hormone insensitive dwarfism, dysmorphic features, eczema, lymphocytic interstitial pneumonitis, autoimmunity; Combined immunodeficiencies with associated or syndromic features to Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, OMIM:245590; Growth hormone insensitivity with immune dysregulation 2, autosomal dominant, OMIM:618985; T-B+ SCID; Combined immunodeficiency; Growth-hormone insensitive dwarfism, dysmorphic features, eczema, lymphocytic interstitial pneumonitis, autoimmunity; Combined immunodeficiencies with associated or syndromic features
Primary immunodeficiency or monogenic inflammatory bowel disease v3.1 TBX1 Ronnie Wright reviewed gene: TBX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v3.1 Eleanor Williams Panel version 3.0 has been signed off on 2022-11-30
Primary immunodeficiency or monogenic inflammatory bowel disease v3.0 Eleanor Williams promoted panel to version 3.0
Primary immunodeficiency or monogenic inflammatory bowel disease v2.583 Eleanor Williams Panel name changed from Primary immunodeficiency to Primary immunodeficiency or monogenic inflammatory bowel disease
List of related panels changed from Primary immunodeficiency disorders; A- or hypo-gammaglobulinaemia; Congenital neutropaenia; Agranulocytosis; Combined B and T cell defect; Inherited complement deficiency; SCID; Primary immune disorder; Primary immunodeficiency; A-gammaglobulinaemia; Agammaglobulinaemia; hypo-gammaglobulinaemia; hypogammaglobulinemia; immune deficiency syndromes; Severe combined immunodeficiency; Congenital neutopenia; Familial haemophagocytic lymphohistiocytic disorders; Familial hemophagocytic lymphohistiocytic disorders; PID; Sepsis; Disseminated non-tuberculous mycobacterial infection; R15 to Primary immunodeficiency disorders; A- or hypo-gammaglobulinaemia; Congenital neutropaenia; Agranulocytosis; Combined B and T cell defect; Inherited complement deficiency; SCID; Primary immune disorder; Primary immunodeficiency; A-gammaglobulinaemia; Agammaglobulinaemia; hypo-gammaglobulinaemia; hypogammaglobulinemia; immune deficiency syndromes; Severe combined immunodeficiency; Congenital neutopenia; Familial haemophagocytic lymphohistiocytic disorders; Familial hemophagocytic lymphohistiocytic disorders; PID; Sepsis; Disseminated non-tuberculous mycobacterial infection; Primary immunodeficiency; R15
Primary immunodeficiency or monogenic inflammatory bowel disease v2.582 IRF7 Dmitrijs Rots edited their review of gene: IRF7: Added comment: 7 families in total reported. Enough evidence for green classification.; Changed rating: GREEN; Changed publications to: 35986347, 35670811
Primary immunodeficiency or monogenic inflammatory bowel disease v2.582 KCNA5 Inga Nartisa gene: KCNA5 was added
gene: KCNA5 was added to Primary immunodeficiency. Sources: Literature,Expert Review
Mode of inheritance for gene: KCNA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KCNA5 were set to PMID: 35748970; PMID: 34536415
Phenotypes for gene: KCNA5 were set to autoimmunity; autoinflammation
Review for gene: KCNA5 was set to GREEN
Added comment: Sources: Literature, Expert Review
Primary immunodeficiency or monogenic inflammatory bowel disease v2.582 DIAPH1 Inga Nartisa gene: DIAPH1 was added
gene: DIAPH1 was added to Primary immunodeficiency. Sources: Expert Review,Literature
Mode of inheritance for gene: DIAPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DIAPH1 were set to PMID: 35748970; PMID: 33662367
Phenotypes for gene: DIAPH1 were set to microcephaly; epilepsy; cortical blindness; poor lymphocyte activation and proliferation, defective B-cell maturation, and lack of naive T cells.
Review for gene: DIAPH1 was set to GREEN
Added comment: Sources: Expert Review, Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.582 CHUK Inga Nartisa gene: CHUK was added
gene: CHUK was added to Primary immunodeficiency. Sources: Expert Review,Literature
Mode of inheritance for gene: CHUK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHUK were set to PMID: 35748970; PMID: 34533979
Phenotypes for gene: CHUK were set to recurrent infections; skeletal abnormalities; absent secondary lymphoid structures; reduced B cell numbers; hypogammaglobulinemia; lymphocytic infiltration of intestine and liver
Review for gene: CHUK was set to GREEN
Added comment: Sources: Expert Review, Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.582 COPG1 Inga Nartisa gene: COPG1 was added
gene: COPG1 was added to Primary immunodeficiency. Sources: Expert Review,Literature
Mode of inheritance for gene: COPG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COPG1 were set to PMID: 35748970; PMID: 33529166
Phenotypes for gene: COPG1 were set to persistent bacterial infection; persistent viral infections; defective humoral and cellular immunity
Review for gene: COPG1 was set to GREEN
Added comment: Sources: Expert Review, Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.582 MAN2B2 Inga Nartisa gene: MAN2B2 was added
gene: MAN2B2 was added to Primary immunodeficiency. Sources: Other
Mode of inheritance for gene: MAN2B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAN2B2 were set to PMID: 31775018
Review for gene: MAN2B2 was set to GREEN
Added comment: Sources: Other
Primary immunodeficiency or monogenic inflammatory bowel disease v2.582 SASH3 Eleanor Williams commented on gene: SASH3
Primary immunodeficiency or monogenic inflammatory bowel disease v2.582 SASH3 Eleanor Williams Tag gene-checked was removed from gene: SASH3.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.582 PRIM1 Eleanor Williams commented on gene: PRIM1
Primary immunodeficiency or monogenic inflammatory bowel disease v2.582 PRIM1 Eleanor Williams Phenotypes for gene: PRIM1 were changed from Microcephalic primordial dwarfism, MONDO:0017950 to Microcephalic primordial dwarfism, MONDO:0017950; Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, OMIM:620005
Primary immunodeficiency or monogenic inflammatory bowel disease v2.581 PRIM1 Eleanor Williams Tag gene-checked was removed from gene: PRIM1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.581 TERT Arina Puzriakova Phenotypes for gene: TERT were changed from Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay; Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay; Bone marrow failure to Dyskeratosis congenita, autosomal dominant 2, OMIM:613989; Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
Primary immunodeficiency or monogenic inflammatory bowel disease v2.580 ADAR Arina Puzriakova Phenotypes for gene: ADAR were changed from Fever Syndromes and Related Diseases, Aicardi-Goutieres syndrome 6, 615010; AGS6; Type 1 interferonopathies; Classical AGS, BSN, SP; Autoinflammatory Disorders to Aicardi-Goutieres syndrome 6, OMIM:615010; Fever Syndromes and Related Diseases; Type 1 interferonopathies; Autoinflammatory Disorders
Primary immunodeficiency or monogenic inflammatory bowel disease v2.579 RANBP2 Dmitrijs Rots reviewed gene: RANBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35748970, 25522933, 29687329, 30796099, 35381605; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v2.579 TCF3 Arina Puzriakova Phenotypes for gene: TCF3 were changed from Agammaglobulinemia; Agammaglobulinemia 8, autosomal dominant, 616941; Primary immunodeficiency; Recurrent bacterial infections; Predominantly Antibody Deficiencies to Agammaglobulinemia 8A, autosomal dominant, OMIM:616941; Agammaglobulinemia 8B, autosomal recessive, OMIM:619824; Recurrent bacterial infections; Predominantly Antibody Deficiencies
Primary immunodeficiency or monogenic inflammatory bowel disease v2.578 TGFB1 Arina Puzriakova Phenotypes for gene: TGFB1 were changed from Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213; 618213; Inflammatory bowel disease, immunodeficiency, and encephalopathy, OMIM; TGFB1 deficiency; Diseases of Immune Dysregulation; IBD, immunodeficiency, recurrent viral infections, microcephaly, and encephalopathy to Inflammatory bowel disease, immunodeficiency, and encephalopathy, OMIM:618213
Primary immunodeficiency or monogenic inflammatory bowel disease v2.577 DCLRE1B Eleanor Williams commented on gene: DCLRE1B
Primary immunodeficiency or monogenic inflammatory bowel disease v2.577 DCLRE1B Eleanor Williams Tag Q3_21_rating tag was added to gene: DCLRE1B.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.577 LYN Boaz Palterer gene: LYN was added
gene: LYN was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: LYN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LYN were set to 36122175
Phenotypes for gene: LYN were set to Autoinflammatory; Neutrophilic vasculitis; Liver fibrosis; Chronic urticaria; Atopic dermatitis; Fever
Penetrance for gene: LYN were set to unknown
Review for gene: LYN was set to GREEN
Added comment: Louvrier et al. described 1 patient ( PMID 36122175 ) and De Jesus et al ( https://www.medrxiv.org/content/10.1101/2022.09.27.22280319v1.full.pdf ) 3 additional patients, for a total of 4 kindreds with de novo LYN mutations.
Strong functional evidence: p.Tyr508His, p.Tyr508Phe and p.Tyr508* cause inhibition loss, leading to Tyr397 autophosphorylation and functional GOF.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.577 ALPK1 Dmitrijs Rots gene: ALPK1 was added
gene: ALPK1 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: ALPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ALPK1 were set to 35868845
Phenotypes for gene: ALPK1 were set to ROSAH syndrome
Penetrance for gene: ALPK1 were set to unknown
Mode of pathogenicity for gene: ALPK1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: ALPK1 was set to GREEN
Added comment: GoF missense variants in ALPK1 cause autoinflammatory condition ROSAH, with most individuals having inflammation, immune therapy available.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.577 UBA1 Dmitrijs Rots commented on gene: UBA1: NRAS and KRAS SOMATIC variants are included as Amber in this panel
Primary immunodeficiency or monogenic inflammatory bowel disease v2.577 IFNAR2 Arina Puzriakova Classified gene: IFNAR2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.577 IFNAR2 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel review.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.577 IFNAR2 Arina Puzriakova Gene: ifnar2 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.576 IFNAR2 Arina Puzriakova Publications for gene: IFNAR2 were set to 32048120; 26424569; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.575 IFNAR2 Arina Puzriakova Tag Q3_22_rating tag was added to gene: IFNAR2.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.575 IFNAR2 Arina Puzriakova reviewed gene: IFNAR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26424569, 33193576, 33544838, 35442417, 35944424; Phenotypes: Immunodeficiency 45, OMIM:616669; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.575 IFNAR2 Arina Puzriakova Phenotypes for gene: IFNAR2 were changed from Defects in Intrinsic and Innate Immunity; Severe viral infections (disseminated vaccine-strain measles, HHV6); ?Immunodeficiency 45, 616669 to Immunodeficiency 45, OMIM:616669
Primary immunodeficiency or monogenic inflammatory bowel disease v2.574 IRF7 Dmitrijs Rots reviewed gene: IRF7: Rating: AMBER; Mode of pathogenicity: None; Publications: 35986347; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.574 IFNAR2 Dmitrijs Rots changed review comment from: In review 35986347 report on family with severe COVID and biallelic IFNAR2 variant.; to: In review 35986347 report on study + family with severe COVID and biallelic IFNAR2 variant.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.574 IFNAR2 Dmitrijs Rots reviewed gene: IFNAR2: Rating: AMBER; Mode of pathogenicity: None; Publications: 35986347; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.574 CLPB Arina Puzriakova Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, OMIM:616271 to 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271; 3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM: 619835; Neutropenia, severe congenital, 9, autosomal dominant, OMIM: 619813
Primary immunodeficiency or monogenic inflammatory bowel disease v2.573 FOXI3 Boaz Palterer gene: FOXI3 was added
gene: FOXI3 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: FOXI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXI3 were set to 35987349
Phenotypes for gene: FOXI3 were set to T-cell lymphopenia; low TREC; thymic hypoplasia
Penetrance for gene: FOXI3 were set to Incomplete
Review for gene: FOXI3 was set to AMBER
Added comment: Ghosh et al. described 2 unrelated patients with T cell lymphopenia, positive TREC screening and thymic hypoplasia with deleterious FOXI3 variants. FOXI3 was demonstrated in mice models to be involved in thymic development.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.573 TPP2 Eleanor Williams Phenotypes for gene: TPP2 were changed from Tripeptidyl-Peptidase II Deficiency; TPP2 deficiency; Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome; immune thrombocytopenia and autoimmune hemolytic anemia; Evans syndrome; Variable lymphoproliferation, severe autoimmune cytopenias, hypergammaglobulinemia, recurrent infections; Diseases of Immune Dysregulation to Tripeptidyl-Peptidase II Deficiency; TPP2 deficiency; Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome; immune thrombocytopenia and autoimmune hemolytic anemia; Evans syndrome; Variable lymphoproliferation, severe autoimmune cytopenias, hypergammaglobulinemia, recurrent infections; Diseases of Immune Dysregulation; Immunodeficiency 78 with autoimmunity and developmental delay, OMIM:619220
Primary immunodeficiency or monogenic inflammatory bowel disease v2.572 PMS2 Arina Puzriakova commented on gene: PMS2
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 PMS2 Arina Puzriakova Source Expert Review Red was added to PMS2.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
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)
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)
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)
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)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.570 RFXANK Arina Puzriakova Phenotypes for gene: RFXANK were changed from MHC class II deficiency, complementation group B; Combined immunodeficiency (MHC class II deficiency, bare lymphocyte syndrome); HLA class II deficiency; Respiratory and gastrointestinal infections, liver/biliary tract disease; Immunodeficiencies affecting cellular and humoral immunity to MHC class II deficiency, complementation group B, OMIM:209920; HLA class II deficiency; Respiratory and gastrointestinal infections, liver/biliary tract disease; Immunodeficiencies affecting cellular and humoral immunity
Primary immunodeficiency or monogenic inflammatory bowel disease v2.569 STAT6 Arina Puzriakova Classified gene: STAT6 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.569 STAT6 Arina Puzriakova Added comment: Comment on list classification: Two unrelated patients with early-life onset of allergic immune dysregulation described in preprint by Sharma et al. as per review by Boaz Palterer. Red rating may be reconsidered following peer review of paper but additional cases would be required to reach a diagnostic level of evidence.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.569 STAT6 Arina Puzriakova Gene: stat6 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.568 STAT6 Arina Puzriakova Tag watchlist tag was added to gene: STAT6.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.568 HCK Arina Puzriakova Mode of inheritance for gene: HCK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary immunodeficiency or monogenic inflammatory bowel disease v2.567 HCK Arina Puzriakova Classified gene: HCK as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.567 HCK Arina Puzriakova Added comment: Comment on list classification: Single case reported to date as per review by Boaz Palterer. Rating Red until further cases emerge.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.567 HCK Arina Puzriakova Gene: hck has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.566 TLR8 Arina Puzriakova Publications for gene: TLR8 were set to 33512449; 34981838
Primary immunodeficiency or monogenic inflammatory bowel disease v2.565 TLR8 Arina Puzriakova Classified gene: TLR8 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.565 TLR8 Arina Puzriakova Added comment: Comment on list classification: Overall at least 7 unrelated families have been reported which support an association of TLR8 with immune dysfunction and autoinflammation, of which two families harboured germline variants. Functional data, including in vitro and animal model studies, corroborate pathogenicity of TLR8 variants. Therefore this gene can now be promoted to Green at the next GMS panel update.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.565 TLR8 Arina Puzriakova Gene: tlr8 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.564 TLR8 Arina Puzriakova Tag Q3_22_rating tag was added to gene: TLR8.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.564 TLR8 Arina Puzriakova Publications for gene: TLR8 were set to https://doi.org/10.1182/blood.2020009620
Primary immunodeficiency or monogenic inflammatory bowel disease v2.563 TLR8 Arina Puzriakova Mode of inheritance for gene: TLR8 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.562 TLR8 Arina Puzriakova Phenotypes for gene: TLR8 were changed from neutropenia; lymphoproliferation; hypogammaglobulinemia; bone marrow failure to Immunodeficiency 98 with autoinflammation, X-linked, OMIM:301078
Primary immunodeficiency or monogenic inflammatory bowel disease v2.561 CRACR2A Arina Puzriakova Classified gene: CRACR2A as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.561 CRACR2A Arina Puzriakova Added comment: Comment on list classification: Single case reported to date, as per review by Zornitza Stark. Rating Red until further cases emerge.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.561 CRACR2A Arina Puzriakova Gene: cracr2a has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.560 ANGPT1 Arina Puzriakova Classified gene: ANGPT1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.560 ANGPT1 Arina Puzriakova Added comment: Comment on list classification: To date only a single family has been reported but with several lines of evidence such as multigenerational segregation and functional data that provides a plausible mechanism of disease. At least one more case is needed to corroborate this gene-disease association, and therefore Rating Amber with a watchlist tag in anticipation of further cases emerging.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.560 ANGPT1 Arina Puzriakova Gene: angpt1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.559 ANGPT1 Arina Puzriakova reviewed gene: ANGPT1: Rating: ; Mode of pathogenicity: None; Publications: 28601681, 30689269; Phenotypes: Angioedema, hereditary, 5, OMIM:61936; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary immunodeficiency or monogenic inflammatory bowel disease v2.559 ANGPT1 Arina Puzriakova Publications for gene: ANGPT1 were set to 28601681
Primary immunodeficiency or monogenic inflammatory bowel disease v2.558 ANGPT1 Arina Puzriakova Tag watchlist tag was added to gene: ANGPT1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.558 ANGPT1 Arina Puzriakova Phenotypes for gene: ANGPT1 were changed from Hereditary Angioedema to Angioedema, hereditary, 5, OMIM:619361
Primary immunodeficiency or monogenic inflammatory bowel disease v2.557 EP300 Boaz Palterer gene: EP300 was added
gene: EP300 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: EP300 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EP300 were set to 32594341
Phenotypes for gene: EP300 were set to Rubinstein-Taybi Syndrome; Hypogammaglobulinemia; short stature; Intellectual disability; broad thumbs and first toes; highly arched eyebrows; long eyelashes; downslanting palpebral fissures; convex nasal ridge; low hanging columella; highly arched palate; micrognathia
Penetrance for gene: EP300 were set to unknown
Review for gene: EP300 was set to GREEN
Added comment: Saettini et al. reviewed immunological features of Rubinstein-Taybi Syndrome and found: "Recurrent or severe infections, autoimmune/autoinflammatory complications, and lymphoproliferation were observed in 72.1%, 12.3%, and 8.2% of patients. Syndromic immunodeficiency was diagnosed in 46.4% of individuals. Despite the broad heterogeneity of immunodeficiency disorders, antibody defects were observed in 11.3% of subjects. In particular, these patients presented hypogammaglobulinemia associated with low B cell counts and reduction of switched memory B cell numbers. Immunoglobulin replacement therapy, antibiotic prophylaxis, and immunosuppressive treatment were employed in 16.4%, 8.2%, and 9.8% of patients, respectively. ", making it a relevant phenotype for this panel.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.557 CREBBP Boaz Palterer gene: CREBBP was added
gene: CREBBP was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CREBBP were set to 32594341
Phenotypes for gene: CREBBP were set to Rubinstein-Taybi Syndrome; Hypogammaglobulinemia; short stature; Intellectual disability; broad thumbs and first toes; highly arched eyebrows; long eyelashes; downslanting palpebral fissures; convex nasal ridge; low hanging columella; highly arched palate; micrognathia
Penetrance for gene: CREBBP were set to unknown
Review for gene: CREBBP was set to GREEN
Added comment: Saettini et al. reviewed immunological features of Rubinstein-Taybi Syndrome and found: "Recurrent or severe infections, autoimmune/autoinflammatory complications, and lymphoproliferation were observed in 72.1%, 12.3%, and 8.2% of patients. Syndromic immunodeficiency was diagnosed in 46.4% of individuals. Despite the broad heterogeneity of immunodeficiency disorders, antibody defects were observed in 11.3% of subjects. In particular, these patients presented hypogammaglobulinemia associated with low B cell counts and reduction of switched memory B cell numbers. Immunoglobulin replacement therapy, antibiotic prophylaxis, and immunosuppressive treatment were employed in 16.4%, 8.2%, and 9.8% of patients, respectively. ", making it a relevant phenotype for this panel.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.557 C2orf69 Boaz Palterer gene: C2orf69 was added
gene: C2orf69 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: C2orf69 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C2orf69 were set to 33945503; 34038740
Phenotypes for gene: C2orf69 were set to hypomyelination; microcephaly; liver dysfunction; autoinflammation; leukoencephalopathy
Penetrance for gene: C2orf69 were set to unknown
Review for gene: C2orf69 was set to GREEN
Added comment: Lausberg et al. dentified loss-of-function mutations in the uncharacterized C2orf69 gene in 8 individuals from 5 kindreds with biallelic C2orf69 variants, presenting with brain abnormalities involving hypomyelination and microcephaly, liver dysfunction, and recurrent autoinflammation.
Wong et al. described 20 subjects from 5 kindreds with biallelic variants and a similar phenotype.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.557 ATAD3A Boaz Palterer gene: ATAD3A was added
gene: ATAD3A was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: ATAD3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATAD3A were set to 34387651
Phenotypes for gene: ATAD3A were set to Developmental delay; Hypotonia; Dystonia; Systemic sclerosis; Autoimmunity; Contractures; Basal ganglia calcifications; Interferonopathy
Penetrance for gene: ATAD3A were set to unknown
Review for gene: ATAD3A was set to GREEN
Added comment: Leppeley et al. described 8 patients across 7 kindreds (one inherited and 7 de novo), with mono or biallelic variants in ATAD3A. Patients presented with a wide clinical spectrum and all presented elevated IFN signature.
Functional data provided: "Knockdown of ATAD3A in THP-1 cells resulted in increased interferon signaling, mediated by cyclic GMP-AMP synthase (cGAS) and stimulator of interferon genes (STING). Enhanced interferon signaling was abrogated in THP-1 cells and patient fibroblasts depleted of mtDNA."
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.557 SKIV2L Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for SKIV2L is SKIC2.; to: Added new-gene-name tag, new approved HGNC gene symbol for SKIV2L is SKIC2.
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 v2.557 SKIV2L Sarah Leigh commented on gene: SKIV2L
Primary immunodeficiency or monogenic inflammatory bowel disease v2.557 SKIV2L Sarah Leigh Tag new-gene-name tag was added to gene: SKIV2L.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.557 SASH3 Sarah Leigh Phenotypes for gene: SASH3 were changed from Combined immunodeficiency; lymphopenia; neutropenia; immunodysregulation; autoimmune cytopenias to Immunodeficiency 102, OMIM:301082
Primary immunodeficiency or monogenic inflammatory bowel disease v2.556 OAS1 Sarah Leigh Phenotypes for gene: OAS1 were changed from Autoinflammatory Disorders; Pulmonary alveolar proteinosis; Recurrent fever; Dermatitis; Inflammatory bowel disease; Hypogammaglobulinemia to Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia, OMIM:618042
Primary immunodeficiency or monogenic inflammatory bowel disease v2.555 OAS1 Sarah Leigh Tag gene-checked was removed from gene: OAS1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.555 DNASE2 Sarah Leigh Tag gene-checked was removed from gene: DNASE2.
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 v2.555 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 v2.554 IKBKB Arina Puzriakova Tag Q3_22_MOI tag was added to gene: IKBKB.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.554 IKBKB Arina Puzriakova Added comment: Comment on mode of inheritance: Should be updated from 'biallelic' to 'both mono- and biallelic' at the next GMS panel update. Both inheritance patterns are associated with a relevant phenotype of primary immunodeficiency, but AR disease is more severe with earlier onset.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.554 IKBKB Arina Puzriakova Mode of inheritance for gene: IKBKB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.553 IKBKB Arina Puzriakova Phenotypes for gene: IKBKB were changed from Immunodeficiency 15, 615592; Combined immunodeficiency; Recurrent bacterial, viral, fungal infections, opportunistic infections; Immunodeficiencies affecting cellular and humoral immunity to Immunodeficiency 15A, OMIM:618204 (AD); Immunodeficiency 15B, OMIM:615592 (AR); Combined immunodeficiency; Recurrent bacterial, viral, fungal infections, opportunistic infections; Immunodeficiencies affecting cellular and humoral immunity
Primary immunodeficiency or monogenic inflammatory bowel disease v2.552 FOXN1 Arina Puzriakova changed review comment from: Comment on mode of inheritance: Should be updated from 'biallelic' to 'both mono- and biallelic' at the next GMS update. Severe recurrent infections due to T-cell deficiency usually apparent from birth has been associated with both homozygous and heterozygous variants in the FOXN1 gene. Sufficient cases for both inheritance types to rate as Green with this MOI.; to: Comment on mode of inheritance: Should be updated from 'biallelic' to 'both mono- and biallelic' at the next GMS update. Severe recurrent infections due to T-cell deficiency usually apparent from birth have been associated with both homozygous and heterozygous variants in the FOXN1 gene. Sufficient cases for both inheritance types to rate as Green with this MOI.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.552 FOXN1 Arina Puzriakova Added comment: Comment on mode of inheritance: Should be updated from 'biallelic' to 'both mono- and biallelic' at the next GMS update. Severe recurrent infections due to T-cell deficiency usually apparent from birth has been associated with both homozygous and heterozygous variants in the FOXN1 gene. Sufficient cases for both inheritance types to rate as Green with this MOI.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.552 FOXN1 Arina Puzriakova Mode of inheritance for gene: FOXN1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.551 FOXN1 Arina Puzriakova Tag Q3_22_MOI tag was added to gene: FOXN1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.551 FOXN1 Arina Puzriakova commented on gene: FOXN1
Primary immunodeficiency or monogenic inflammatory bowel disease v2.551 FOXN1 Arina Puzriakova Phenotypes for gene: FOXN1 were changed from T-B+ SCID; T-B+ SCID, congenital alopecia, nail dystrophy, 601705; T-cell immunodeficiency, congenital alopecia, and nail dystrophy; Nude severe combined immunodeficiency; Severe infections, abnormal thymic epithelium, immunodeficiency, congenital alopecia, nail dystrophy, neural tube defect; Combined immunodeficiencies with associated or syndromic features to T-cell immunodeficiency, congenital alopecia, and nail dystrophy, OMIM:601705 (AR); T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant, OMIM:618806 (AD); T-B+ SCID; Severe infections, abnormal thymic epithelium, immunodeficiency, congenital alopecia, nail dystrophy, neural tube defect; Combined immunodeficiencies with associated or syndromic features
Primary immunodeficiency or monogenic inflammatory bowel disease v2.550 STAT6 Boaz Palterer gene: STAT6 was added
gene: STAT6 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: STAT6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: STAT6 were set to Primary Atopic Disorder; Atopy; Vascular anomalies; Atopic dermamatitis; Allergy; Atopy; Hyper-IgE; elevated IgE; Eosinophilic esophagitis; Food allergies
Penetrance for gene: STAT6 were set to unknown
Mode of pathogenicity for gene: STAT6 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: STAT6 was set to RED
Added comment: Sharma et al. identified two patients from two kindreds with early-onset severe primary atopic disorder carrying de novo heterozygous STAT6 gain-of-function mutations ( https://www.medrxiv.org/content/10.1101/2022.04.25.22274265v1 ).
Extensive functional data is provided and the phenotype of GOF STAT6 variants was previously predicted (https://pubmed.ncbi.nlm.nih.gov/10747856/).
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.550 PMS2 Dmitrijs Rots reviewed gene: PMS2: Rating: RED; Mode of pathogenicity: None; Publications: 30013564; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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 v2.550 HCK Boaz Palterer gene: HCK was added
gene: HCK was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: HCK was set to Unknown
Publications for gene: HCK were set to 34536415
Phenotypes for gene: HCK were set to Autoinflammatory disease; Cutaneous vasculitis; Lung inflammation; Lung fibrosis; Interstitial lung disease
Penetrance for gene: HCK were set to unknown
Mode of pathogenicity for gene: HCK was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: HCK was set to RED
Added comment: Kanderova et al. described a single patient with an autoinflammatory phenotype characterized by early-onset cutaneous vasculitis and lung inflammation leading to fibrosis.
A de novo truncating mutation (p.Tyr515*) in the HCK leading to the loss of the C-terminal inhibitory tyrosine Tyr522 was identified.
Variant pathogenicity was confirmed ex vivo in primary cells and in vitro in transduced cell lines.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.550 UBA1 Eleanor Williams Classified gene: UBA1 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.550 UBA1 Eleanor Williams Added comment: Comment on list classification: The rating of this gene has been left as red for now, as it is a somatic variant. Advice will be sought as to the best rating. It is also being reviewed on the 'Autoinflammatory disorders' wet lab panel by the Test Evaluation Working Group.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.550 UBA1 Eleanor Williams Gene: uba1 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.549 UBA1 Eleanor Williams Tag Q2_22_expert_review tag was added to gene: UBA1.
Tag Q2_22_NHS_review tag was added to gene: UBA1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.549 UBA1 Eleanor Williams Tag to_be_confirmed_NHSE was removed from gene: UBA1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.549 UBA1 Eleanor Williams Tag to_be_confirmed_NHSE tag was added to gene: UBA1.
Tag Q2_22_rating tag was added to gene: UBA1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.549 C17orf62 Arina Puzriakova Phenotypes for gene: C17orf62 were changed from Autosomal recessive CGD EROS; Congenital defects of phagocyte number or function; Chronic granulomatous disease to Chronic granulomatous disease 5, autosomal recessive, OMIM:618935; Autosomal recessive CGD EROS; Congenital defects of phagocyte number or function; Chronic granulomatous disease
Primary immunodeficiency or monogenic inflammatory bowel disease v2.548 TAZ Arina Puzriakova commented on gene: TAZ
Primary immunodeficiency or monogenic inflammatory bowel disease v2.548 TAZ Arina Puzriakova Tag new-gene-name tag was added to gene: TAZ.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.548 PRIM1 Arina Puzriakova Tag gene-checked tag was added to gene: PRIM1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.548 OAS1 Arina Puzriakova Tag gene-checked tag was added to gene: OAS1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.548 ZNF341 Arina Puzriakova Tag gene-checked tag was added to gene: ZNF341.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.548 SASH3 Eleanor Williams Tag gene-checked tag was added to gene: SASH3.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.548 SNORA31 Eleanor Williams Tag gene-checked tag was added to gene: SNORA31.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.548 STXBP3 Eleanor Williams Tag gene-checked tag was added to gene: STXBP3.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.548 RNU7-1 Eleanor Williams Tag gene-checked tag was added to gene: RNU7-1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.548 ZNFX1 Catherine Snow Tag gene-checked tag was added to gene: ZNFX1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.548 TRIM22 Catherine Snow Tag gene-checked tag was added to gene: TRIM22.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.548 TNFRSF9 Catherine Snow Tag gene-checked tag was added to gene: TNFRSF9.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.548 C17orf62 Catherine Snow Tag gene-checked tag was added to gene: C17orf62.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.548 ALPI Catherine Snow Tag gene-checked tag was added to gene: ALPI.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.548 TLR7 Boaz Palterer changed review comment from: Missense variants of TLR7 that are gain-of-function were shown to cause SLE in two kindreds and a single patient.
Extensive functional data and mice model.; to: Missense variants of TLR7 that are gain-of-function (p.Y264H, p.F507L and p.R28G) were shown to cause SLE in two kindreds and a single patient.
Extensive functional data and mice model.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.548 TLR7 Boaz Palterer reviewed gene: TLR7: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 35477763; Phenotypes: systemic lupus erythematosus, autoinflammatory, interferonopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v2.548 INO80 Arina Puzriakova Tag gene-checked tag was added to gene: INO80.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.548 MAP3K14 Arina Puzriakova Tag gene-checked tag was added to gene: MAP3K14.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.548 DNASE2 Arina Puzriakova Tag gene-checked tag was added to gene: DNASE2.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.548 DNASE2 Arina Puzriakova Phenotypes for gene: DNASE2 were changed from Glomerulonephritis, arthropathy, vasculitis; Autoinflammatory Disorders; multisystem autoinflammatory syndrome; severe neonatal anemia; membranoproliferative glomerulonephritis; liver fibrosis; deforming arthropathy; SLE to Autoinflammatory-pancytopenia syndrome, OMIM:619858
Primary immunodeficiency or monogenic inflammatory bowel disease v2.547 DNASE2 Arina Puzriakova Publications for gene: DNASE2 were set to 29259162
Primary immunodeficiency or monogenic inflammatory bowel disease v2.546 DCLRE1B Arina Puzriakova Tag gene-checked tag was added to gene: DCLRE1B.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.546 FASLG Eleanor Williams Added comment: Comment on mode of inheritance: There are 3 cases with Autoimmune lymphoproliferative syndrome reported with homozygous variants in FASLG but also 2 reports of milder cases with heterozygous variants (not fully penetrant) so a change of mode of inheritance to "BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal" should be considered following GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.546 FASLG Eleanor Williams Mode of inheritance for gene: FASLG was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.545 FASLG Eleanor Williams Tag Q2_22_MOI tag was added to gene: FASLG.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.545 FASLG Eleanor Williams Added comment: Comment on publications: Removed publications with the following PMIDS as not specifically about patients with variants in FASLG: 26907631;16537120;8806292;22983577;16394653
Primary immunodeficiency or monogenic inflammatory bowel disease v2.545 FASLG Eleanor Williams Publications for gene: FASLG were set to 8806292; 16537120; 16394653; 8787672; 20301287; 17605793; 26907631; 27848183; 25451160; 22857792; 7511063; 22983577
Primary immunodeficiency or monogenic inflammatory bowel disease v2.544 FASLG Eleanor Williams Phenotypes for gene: FASLG were changed from Autoimmune lymphoproliferative syndrome, type IB, OMIM:601859; autoimmune lymphoproliferative syndrome type 1, MONDO:0011158; SLE to Autoimmune lymphoproliferative syndrome, type IB, OMIM:601859; autoimmune lymphoproliferative syndrome type 1, MONDO:0011158; systemic lupus erythematosus (SLE)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.543 FASLG Eleanor Williams Phenotypes for gene: FASLG were changed from Autoimmune lymphoproliferative syndrome, type IB, 601859; Autoimmune lymphoproliferative syndrome, type IB (ALPS-FASG); Autoimmune lymphoproliferative syndrome (ALPS); Splenomegaly, adenopathies, autoimmune cytopenias, SLE, soluble FasL is not elevated; Diseases of Immune Dysregulation to Autoimmune lymphoproliferative syndrome, type IB, OMIM:601859; autoimmune lymphoproliferative syndrome type 1, MONDO:0011158; SLE
Primary immunodeficiency or monogenic inflammatory bowel disease v2.542 FASLG Eleanor Williams commented on gene: FASLG: Checking the mode of inheritance for this gene because in OMIM it is associated with Autoimmune lymphoproliferative syndrome, type IB, OMIM:601859 with an autosomal dominant inheritance pattern listed (page last updated in 2014). Note the FASLG gene has previously been known as TNFSF6 and FASL). The FAS gene has previously been know as TNFRSF6.

Patients with homozygous variants:

PMID: 16627752 - Del-Rey et al 2006 - describe a Spanish patient with an ALPS phenotype and with a homozygous missense variant in FASL (A247E). The healthy mother was heterozygous for the variant. DNA from the father was not available.

PMID: 22857792 - Magerus-Chatinet et al 2013 - patient with a a severe form of ALPS who was found to have a homozygous 1-bp deletion in FASLG exon 1, leading to a premature stop codon (F87fs x95) and a complete defect in FASLG expression. The healthy parents were each heterozygous for the mutation.

PMID:25451160 - Nabhani et al 2014 - 2 siblings from a consanguineous Libyan family who presented with a severe phenotype of autoimmune lymphoproliferative syndrome (ALPS) were found by Sanger sequencing of FASLG to have a homozygous 1 bp insertion predicted to result in a frameshift and a truncated protein (p.P69Afs*75). The healthy mother was heterozygous for the variant.

Patients with heterozygous variants:

PMID: 8787672 - Wu et al 1996 - in a 64 year old African American male patient with systemic lupus erythematosus with lymphadenopathy they identified a heterozygous 84bp deletion within exon 4 of FASLG that results in a in-frame deletion using single stranded conformational polymorphism (SSCP).. The found decreased FasL activity in PBMC , decreased activation-induced cell death, and increased T cell proliferation after activation.

PMID: 17605793 - Bi et al 2007 - report an ALPS Type 1b white male patient with a heterozygous A530G mutation in the FasL gene. This variant was also found in his father and paternal grandmother. The father had lymphadenopathy as an adolescent but has been healthy otherwise except for psoriatic arthritis. The grandmother is not reported to have symptoms of ALPS. They show that the variant results in a dominant-interfering FasL protein that binds to the wild-type FasL protein and prevented it from effectively inducing apoptosis.

Other publications linked to this gene by the Human Phenotype Ontology Immune Mediated Disorders Consortium refer more to the phenotype of ALPS and not to FASLG variants specifically (PubMed IDs: 26907631, 16537120, 8806292, 22983577, 16394653).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.542 EPCAM Arina Puzriakova Phenotypes for gene: EPCAM were changed from Diarrhea 5, with tufting enteropathy, congenital to Diarrhea 5, with tufting enteropathy, congenital, OMIM:613217
Primary immunodeficiency or monogenic inflammatory bowel disease v2.541 BRCA2 Arina Puzriakova Phenotypes for gene: BRCA2 were changed from Fanconi anemia, complementation group D1, 605724; Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage; Bone marrow failure; Fanconi Anemia Type D1 to Fanconi anemia, complementation group D1, OMIM:605724; Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage; Bone marrow failure
Primary immunodeficiency or monogenic inflammatory bowel disease v2.540 BRCA1 Arina Puzriakova Phenotypes for gene: BRCA1 were changed from Fanconi anemia, complementation group S, 617883; normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage; Bone marrow failure; Fanconi Anemia Type S to Fanconi anemia, complementation group S, OMIM:617883; Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage; Bone marrow failure
Primary immunodeficiency or monogenic inflammatory bowel disease v2.539 PIK3CD Arina Puzriakova Phenotypes for gene: PIK3CD were changed from Immunodeficiency 14,615513; Combined immunodeficiency; Unclassified antibody deficiency; Activated PI3K-delta syndrome (APDS); sinopulmonary infections, dysgammaglobulinaemia, lymphadenopathy, nodular lymphoid hyperplasia and herpesviremia; Severe bacterial infections; decreased or absent pro-B cells, EBV; Predominantly Antibody Deficiencies to Immunodeficiency 14A, autosomal dominant, OMIM:615513; Immunodeficiency 14B, autosomal recessive, OMIM:619281; Combined immunodeficiency; Activated PI3K-delta syndrome (APDS); Predominantly Antibody Deficiencies; Sinopulmonary infections, dysgammaglobulinaemia, lymphadenopathy, nodular lymphoid hyperplasia and herpesviremia; Severe bacterial infections
Primary immunodeficiency or monogenic inflammatory bowel disease v2.538 F12 Arina Puzriakova Phenotypes for gene: F12 were changed from Angioedema, Hereditary, Type III; hereditary angioedema to Angioedema, hereditary, 3, OMIM:610618
Primary immunodeficiency or monogenic inflammatory bowel disease v2.537 ISCA-37446-Loss Eleanor Williams commented on Region: ISCA-37446-Loss: The required percent of overlap for this region has been changed from 80% to 60% and the genomic location has been updated inline with ClinGen following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.537 ISCA-37433-Loss Arina Puzriakova commented on Region: ISCA-37433-Loss
Primary immunodeficiency or monogenic inflammatory bowel disease v2.537 ISCA-37446-Loss Arina Puzriakova GRCh38 position for ISCA-37446-Loss was changed from 18924718-21111384 to 18924718-21111383.
Required Overlap Percentage for ISCA-37446-Loss was changed from 80 to 60.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.537 ISCA-37433-Loss Arina Puzriakova GRCh38 position for ISCA-37433-Loss was changed from 18924718-20299686 to 18924718-20299685.
Required Overlap Percentage for ISCA-37433-Loss was changed from 80 to 60.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.536 TGFBR2 Arina Puzriakova reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.536 TGFBR1 Arina Puzriakova reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.536 TGFB1 Arina Puzriakova reviewed gene: TGFB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.536 STXBP3 Arina Puzriakova edited their review of gene: STXBP3: Added comment: The rating of this gene has been updated following NHS Genomic Medicine Service approval. It was agreed that there is enough evidence to rate as green - sufficient number of cases presenting a relevant phenotype with some functional data. However, note that several families carried potentially contributory variants in other genes.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v2.536 SLCO2A1 Arina Puzriakova reviewed gene: SLCO2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.536 SLC9A3 Arina Puzriakova reviewed gene: SLC9A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.536 MASP2 Arina Puzriakova reviewed gene: MASP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.536 GUCY2C Arina Puzriakova reviewed gene: GUCY2C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.536 FERMT1 Arina Puzriakova reviewed gene: FERMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.536 COL7A1 Arina Puzriakova reviewed gene: COL7A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.536 ALPI Arina Puzriakova reviewed gene: ALPI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.535 TGFBR2 Arina Puzriakova Source Expert Review Green was added to TGFBR2.
Added phenotypes Loeys-Dietz syndrome 2, OMIM:610168 for gene: TGFBR2
Publications for gene: TGFBR2 were updated from 32086639; 32048120; 29392890 to 32048120; 29392890; 32086639; 24486179
Rating Changed from Red List (low evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.535 TGFBR1 Arina Puzriakova Source Expert Review Green was added to TGFBR1.
Added phenotypes Loeys-Dietz syndrome 1, OMIM:609192 for gene: TGFBR1
Publications for gene: TGFBR1 were updated from 32086639; 32048120; 29392890 to 32048120; 29392890; 32086639; 24486179
Rating Changed from Red List (low evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.535 TGFB1 Arina Puzriakova Source Expert Review Green was added to TGFB1.
Added phenotypes Inflammatory bowel disease, immunodeficiency, and encephalopathy, OMIM; 618213 for gene: TGFB1
Publications for gene: TGFB1 were updated from 32086639; 32048120; 29483653 to 32048120; 29483653; 32086639
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.535 STXBP3 Arina Puzriakova Source Expert Review Green was added to STXBP3.
Added phenotypes Syntaxin binding protein 3 defect for gene: STXBP3
Publications for gene: STXBP3 were updated from 33346580; https://doi.org/10.1053/j.gastro.2017.11.120; 33891011 to 33891011; 33346580; https://doi.org/10.1053/j.gastro.2017.11.120
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.535 SLCO2A1 Arina Puzriakova gene: SLCO2A1 was added
gene: SLCO2A1 was added to Primary immunodeficiency. Sources: Expert Review Green
Mode of inheritance for gene: SLCO2A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLCO2A1 were set to 29313109
Phenotypes for gene: SLCO2A1 were set to Prostaglandin transporter deficiency
Primary immunodeficiency or monogenic inflammatory bowel disease v2.535 SLC9A3 Arina Puzriakova Added phenotypes Diarrhea 8, secretory sodium, congenital, OMIM:616868 for gene: SLC9A3
Publications for gene: SLC9A3 were updated from 26358773; 33346580 to 26358773; 31276831; 30633106; 33346580
Primary immunodeficiency or monogenic inflammatory bowel disease v2.535 GUCY2C Arina Puzriakova Source Expert Review Green was added to GUCY2C.
Mode of inheritance for gene GUCY2C was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Diarrhea 6, OMIM:614616 for gene: GUCY2C
Publications for gene: GUCY2C were updated from to 22436048; 31157858
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.535 FERMT1 Arina Puzriakova Source Expert Review Green was added to FERMT1.
Added phenotypes Kindler syndrome, OMIM:173650 for gene: FERMT1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.535 COL7A1 Arina Puzriakova Source Expert Review Green was added to COL7A1.
Mode of inheritance for gene COL7A1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Inflammatory Bowel Disease for gene: COL7A1
Publications for gene: COL7A1 were updated from 18363753; 23517353; 32084423; 33346580 to 32084423; 33346580; 23517353; 11781296; 18363753; 27537055
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.535 ALPI Arina Puzriakova Source Expert Review Green was added to ALPI.
Added phenotypes Intestinal Alkaline Phosphatase deficiency for gene: ALPI
Publications for gene: ALPI were updated from 32086639; 32048120; 29567797 to 32048120; 29567797; 32086639
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.534 MASP2 Arina Puzriakova Phenotypes for gene: MASP2 were changed from Mannan-binding lectin serine protease (MASP) deficiency; Pyogenic infections, inflammatory lung disease, autoimmunity; Complement Deficiencies; MASP2 deficiency 613791 to MASP2 deficiency, OMIM:613791; Mannan-binding lectin serine protease (MASP) deficiency; Pyogenic infections, inflammatory lung disease, autoimmunity
Primary immunodeficiency or monogenic inflammatory bowel disease v2.533 IL21 Arina Puzriakova commented on gene: IL21
Primary immunodeficiency or monogenic inflammatory bowel disease v2.533 IL21 Arina Puzriakova Phenotypes for gene: IL21 were changed from Severe early onset colitis, recurrent sinopulmonary infections; Immunodeficiency, common variable, 11, 615767; Immunodeficiencies affecting cellular and humoral immunity to Immunodeficiency, common variable, 11 , OMIM:615767; Severe early onset colitis, recurrent sinopulmonary infections; Immunodeficiencies affecting cellular and humoral immunity
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 ZNFX1 Arina Puzriakova Tag Q2_21_rating was removed from gene: ZNFX1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 SYK Arina Puzriakova Tag Q2_21_rating was removed from gene: SYK.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 SASH3 Arina Puzriakova Tag Q2_21_rating was removed from gene: SASH3.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 PLG Arina Puzriakova Tag Q2_21_NHS_review was removed from gene: PLG.
Tag Q3_21_expert_review was removed from gene: PLG.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 PI4KA Arina Puzriakova Tag Q3_21_rating was removed from gene: PI4KA.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 MPEG1 Arina Puzriakova Tag Q2_21_rating was removed from gene: MPEG1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 KMT2D Arina Puzriakova Tag Q3_21_rating was removed from gene: KMT2D.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 KMT2A Arina Puzriakova Tag Q3_21_rating was removed from gene: KMT2A.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 KDM6A Arina Puzriakova Tag Q3_21_expert_review was removed from gene: KDM6A.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 IPO8 Arina Puzriakova Tag Q3_21_expert_review was removed from gene: IPO8.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 IKZF3 Arina Puzriakova Tag Q4_21_rating was removed from gene: IKZF3.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 ELF4 Arina Puzriakova Tag Q3_21_rating was removed from gene: ELF4.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 DEF6 Arina Puzriakova Tag Q4_21_rating was removed from gene: DEF6.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 CLPB Arina Puzriakova Tag Q4_21_MOI was removed from gene: CLPB.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 ZNFX1 Arina Puzriakova commented on gene: ZNFX1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 SYK Arina Puzriakova commented on gene: SYK: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 SASH3 Arina Puzriakova commented on gene: SASH3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 PLG Arina Puzriakova commented on gene: PLG: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 PI4KA Arina Puzriakova commented on gene: PI4KA
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 MPEG1 Arina Puzriakova commented on gene: MPEG1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 KMT2D Arina Puzriakova commented on gene: KMT2D: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 KMT2A Arina Puzriakova commented on gene: KMT2A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 KDM6A Arina Puzriakova commented on gene: KDM6A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 IPO8 Arina Puzriakova commented on gene: IPO8
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 IKZF3 Arina Puzriakova commented on gene: IKZF3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 ELF4 Arina Puzriakova commented on gene: ELF4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 DEF6 Arina Puzriakova commented on gene: DEF6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 CLPB Arina Puzriakova commented on gene: CLPB: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.531 ZNFX1 Arina Puzriakova Source Expert Review Green was added to ZNFX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.531 SYK Arina Puzriakova Source Expert Review Green was added to SYK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.531 SASH3 Arina Puzriakova Source Expert Review Green was added to SASH3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.531 PLG Arina Puzriakova Source Expert Review Green was added to PLG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.531 PI4KA Arina Puzriakova Source Expert Review Green was added to PI4KA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.531 MPEG1 Arina Puzriakova Source Expert Review Green was added to MPEG1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.531 KMT2D Arina Puzriakova Source Expert Review Green was added to KMT2D.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.531 KMT2A Arina Puzriakova Source Expert Review Green was added to KMT2A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.531 KDM6A Arina Puzriakova Source Expert Review Green was added to KDM6A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.531 IKZF3 Arina Puzriakova Source Expert Review Green was added to IKZF3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.531 ELF4 Arina Puzriakova Source Expert Review Green was added to ELF4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.531 DEF6 Arina Puzriakova Source Expert Review Green was added to DEF6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.531 CLPB Arina Puzriakova Mode of inheritance for gene CLPB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.530 SEC61A1 Arina Puzriakova changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. It was agreed that SEC61A1 should remain amber at this time.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.530 SEC61A1 Arina Puzriakova Tag for-review was removed from gene: SEC61A1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.530 STAT5B Arina Puzriakova changed review comment from: Comment on mode of inheritance: MOI to be further discussed by the NHS Genomic Medicine Service team (added TBC tag). Reverted to back to biallelic so the MOI matches the previous signed-off version (v2.1); to: Comment on mode of inheritance: MOI to be further discussed by the NHS Genomic Medicine Service team (added TBC tag). Reverted back to biallelic so the MOI matches the previous signed-off version (v2.1)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.530 STAT5B Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: STAT5B.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.530 STAT5B Arina Puzriakova Added comment: Comment on mode of inheritance: MOI to be further discussed by the NHS Genomic Medicine Service team (added TBC tag). Reverted to back to biallelic so the MOI matches the previous signed-off version (v2.1)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.530 STAT5B Arina Puzriakova Mode of inheritance for gene: STAT5B was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 MYO5B Arina Puzriakova Tag for-review was removed from gene: MYO5B.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 RAC2 Arina Puzriakova changed review comment from: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been approved by the NHS Genomic Medicine Service.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 TCF3 Arina Puzriakova Tag for-review was removed from gene: TCF3.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 TCF3 Arina Puzriakova changed review comment from: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been approved by the NHS Genomic Medicine Service.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 PIK3CD Arina Puzriakova Tag for-review was removed from gene: PIK3CD.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 PIK3CD Arina Puzriakova changed review comment from: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been approved by the NHS Genomic Medicine Service.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 RIPK1 Arina Puzriakova Tag for-review was removed from gene: RIPK1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 RIPK1 Arina Puzriakova changed review comment from: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been approved by the NHS Genomic Medicine Service.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 BLOC1S6 Arina Puzriakova Tag for-review was removed from gene: BLOC1S6.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 BLOC1S6 Arina Puzriakova changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval. It has been agreed that this gene should be green.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 RNU7-1 Arina Puzriakova Tag for-review was removed from gene: RNU7-1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SOCS1 Arina Puzriakova Tag for-review was removed from gene: SOCS1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SNORA31 Arina Puzriakova Tag for-review was removed from gene: SNORA31.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SLC7A7 Arina Puzriakova Tag for-review was removed from gene: SLC7A7.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 CIB1 Arina Puzriakova Tag for-review was removed from gene: CIB1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 EFL1 Arina Puzriakova Tag for-review was removed from gene: EFL1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 DBR1 Arina Puzriakova Tag for-review was removed from gene: DBR1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 PAX1 Arina Puzriakova Tag for-review was removed from gene: PAX1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 PIK3CG Arina Puzriakova Tag for-review was removed from gene: PIK3CG.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 CDC42 Arina Puzriakova Tag for-review was removed from gene: CDC42.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 IL6ST Arina Puzriakova Tag for-review was removed from gene: IL6ST.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 FCHO1 Arina Puzriakova Tag for-review was removed from gene: FCHO1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 IL6R Arina Puzriakova Tag for-review was removed from gene: IL6R.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 IL2RB Arina Puzriakova Tag for-review was removed from gene: IL2RB.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 HAVCR2 Arina Puzriakova Tag for-review was removed from gene: HAVCR2.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 NCKAP1L Arina Puzriakova Tag for-review was removed from gene: NCKAP1L.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 FNIP1 Arina Puzriakova Tag for-review was removed from gene: FNIP1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 ZNF341 Arina Puzriakova Tag for-review was removed from gene: ZNF341.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 TRIM22 Arina Puzriakova Tag for-review was removed from gene: TRIM22.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 TOP2B Arina Puzriakova Tag for-review was removed from gene: TOP2B.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 TNFRSF9 Arina Puzriakova Tag for-review was removed from gene: TNFRSF9.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 NFE2L2 Arina Puzriakova Tag for-review was removed from gene: NFE2L2.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SRP54 Arina Puzriakova Tag for-review was removed from gene: SRP54.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SMARCD2 Arina Puzriakova Tag for-review was removed from gene: SMARCD2.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 RECQL4 Arina Puzriakova Tag for-review was removed from gene: RECQL4.
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 C17orf62 Arina Puzriakova Tag for-review was removed from gene: C17orf62.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 LIG1 Arina Puzriakova Tag for-review was removed from gene: LIG1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 BCL10 Arina Puzriakova Tag for-review was removed from gene: BCL10.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 WDR1 Arina Puzriakova Tag for-review was removed from gene: WDR1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 USP18 Arina Puzriakova Tag for-review was removed from gene: USP18.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 RAC2 Arina Puzriakova Tag watchlist was removed from gene: RAC2.
Tag for-review was removed from gene: RAC2.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 ADAM17 Arina Puzriakova Tag for-review was removed from gene: ADAM17.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 DNASE1L3 Arina Puzriakova Tag for-review was removed from gene: DNASE1L3.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 POLE Arina Puzriakova Tag for-review was removed from gene: POLE.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 OAS1 Arina Puzriakova Tag for-review was removed from gene: OAS1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 CD247 Arina Puzriakova Tag for-review was removed from gene: CD247.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 NPC1 Arina Puzriakova Tag for-review was removed from gene: NPC1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 RAC2 Arina Puzriakova commented on gene: RAC2: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SEC61A1 Arina Puzriakova commented on gene: SEC61A1
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 TCF3 Arina Puzriakova commented on gene: TCF3: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 PIK3CD Arina Puzriakova commented on gene: PIK3CD: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 RIPK1 Arina Puzriakova commented on gene: RIPK1: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 BLOC1S6 Arina Puzriakova commented on gene: BLOC1S6
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 RNU7-1 Arina Puzriakova commented on gene: RNU7-1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 MYO5B Arina Puzriakova commented on gene: MYO5B
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SOCS1 Arina Puzriakova commented on gene: SOCS1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SNORA31 Arina Puzriakova commented on gene: SNORA31: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SLC7A7 Arina Puzriakova commented on gene: SLC7A7: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 CIB1 Arina Puzriakova commented on gene: CIB1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 EFL1 Arina Puzriakova commented on gene: EFL1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 DBR1 Arina Puzriakova commented on gene: DBR1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 PAX1 Arina Puzriakova commented on gene: PAX1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 PIK3CG Arina Puzriakova commented on gene: PIK3CG: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 CDC42 Arina Puzriakova commented on gene: CDC42: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 IL6ST Arina Puzriakova commented on gene: IL6ST: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 FCHO1 Arina Puzriakova commented on gene: FCHO1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 IL6R Arina Puzriakova commented on gene: IL6R: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 IL2RB Arina Puzriakova commented on gene: IL2RB: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 HAVCR2 Arina Puzriakova commented on gene: HAVCR2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 NCKAP1L Arina Puzriakova commented on gene: NCKAP1L: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 FNIP1 Arina Puzriakova commented on gene: FNIP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 ZNF341 Arina Puzriakova commented on gene: ZNF341: The rating of this gene has been updated following NHS Genomic Medicine Service approval. Additional comments from NTGLH: 'Pseudogene affecting exon 15'
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 TRIM22 Arina Puzriakova commented on gene: TRIM22: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 TOP2B Arina Puzriakova commented on gene: TOP2B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 TNFRSF9 Arina Puzriakova commented on gene: TNFRSF9: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 NFE2L2 Arina Puzriakova commented on gene: NFE2L2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SRP54 Arina Puzriakova commented on gene: SRP54: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SMARCD2 Arina Puzriakova commented on gene: SMARCD2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 RECQL4 Arina Puzriakova commented on gene: RECQL4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
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 v2.529 C17orf62 Arina Puzriakova commented on gene: C17orf62: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 LIG1 Arina Puzriakova commented on gene: LIG1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 BCL10 Arina Puzriakova commented on gene: BCL10: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 WDR1 Arina Puzriakova commented on gene: WDR1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 USP18 Arina Puzriakova commented on gene: USP18: The rating of this gene has been updated following NHS Genomic Medicine Service approval. Additional comments from NTGLH: '73.7% Pseudogene exons 3-10 >98% homology ex11 excluded from analysis'
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 RAC2 Arina Puzriakova commented on gene: RAC2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 ADAM17 Arina Puzriakova commented on gene: ADAM17: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 DNASE1L3 Arina Puzriakova commented on gene: DNASE1L3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 POLE Arina Puzriakova commented on gene: POLE: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 OAS1 Arina Puzriakova commented on gene: OAS1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 CD247 Arina Puzriakova commented on gene: CD247: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 NPC1 Arina Puzriakova commented on gene: NPC1
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 BLOC1S6 Arina Puzriakova Source Expert Review Green was added to BLOC1S6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 RNU7-1 Arina Puzriakova Source Expert Review Green was added to RNU7-1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 SOCS1 Arina Puzriakova Source Expert Review Green was added to SOCS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 SNORA31 Arina Puzriakova Source Expert Review Green was added to SNORA31.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 SLC7A7 Arina Puzriakova Source Expert Review Green was added to SLC7A7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 CIB1 Arina Puzriakova Source Expert Review Green was added to CIB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 EFL1 Arina Puzriakova Source Expert Review Green was added to EFL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 DBR1 Arina Puzriakova Source Expert Review Green was added to DBR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 PAX1 Arina Puzriakova Source Expert Review Green was added to PAX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 PIK3CG Arina Puzriakova Source Expert Review Green was added to PIK3CG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 CDC42 Arina Puzriakova Source Expert Review Green was added to CDC42.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 IL6ST Arina Puzriakova Source Expert Review Green was added to IL6ST.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 FCHO1 Arina Puzriakova Source Expert Review Green was added to FCHO1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 IL6R Arina Puzriakova Source Expert Review Green was added to IL6R.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 IL2RB Arina Puzriakova Source Expert Review Green was added to IL2RB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 HAVCR2 Arina Puzriakova Source Expert Review Green was added to HAVCR2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 NCKAP1L Arina Puzriakova Source Expert Review Green was added to NCKAP1L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 FNIP1 Arina Puzriakova Source Expert Review Green was added to FNIP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 ZNF341 Arina Puzriakova Source Expert Review Green was added to ZNF341.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 TRIM22 Arina Puzriakova Source Expert Review Green was added to TRIM22.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 TOP2B Arina Puzriakova Source Expert Review Green was added to TOP2B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 TNFRSF9 Arina Puzriakova Source Expert Review Green was added to TNFRSF9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 NFE2L2 Arina Puzriakova Source Expert Review Green was added to NFE2L2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 SRP54 Arina Puzriakova Source Expert Review Green was added to SRP54.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 SMARCD2 Arina Puzriakova Source Expert Review Green was added to SMARCD2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 RECQL4 Arina Puzriakova Source Expert Review Green was added to RECQL4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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 v2.528 C17orf62 Arina Puzriakova Source Expert Review Green was added to C17orf62.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 LIG1 Arina Puzriakova Source Expert Review Green was added to LIG1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 BCL10 Arina Puzriakova Source Expert Review Green was added to BCL10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 WDR1 Arina Puzriakova Source Expert Review Green was added to WDR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 USP18 Arina Puzriakova Source Expert Review Green was added to USP18.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 RAC2 Arina Puzriakova Source Expert Review Green was added to RAC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 ADAM17 Arina Puzriakova Source Expert Review Green was added to ADAM17.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 DNASE1L3 Arina Puzriakova Source Expert Review Green was added to DNASE1L3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 POLE Arina Puzriakova Source Expert Review Green was added to POLE.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 OAS1 Arina Puzriakova Source Expert Review Green was added to OAS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 CD247 Arina Puzriakova Source Expert Review Green was added to CD247.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 NPC1 Arina Puzriakova Source Expert Review Green was added to NPC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.527 DCLRE1B Arina Puzriakova commented on gene: DCLRE1B: Added 'to_be_confirmed_NHSE' tag as demotion of this gene requires further discussion
Primary immunodeficiency or monogenic inflammatory bowel disease v2.527 DCLRE1B Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: DCLRE1B.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.527 CEBPE Arina Puzriakova Phenotypes for gene: CEBPE were changed from Specific granule deficiency, 245480; Specific granule deficiency 1; CCAAT/enhancer binding protein epsilon deficiency (CEBPE); Recurrent infection due to specific granule deficiency; neutrophil lactoferrin deficiency; Neutrophils with bilobed nuclei; Congenital defects of phagocyte number or function to Specific granule deficiency, OMIM:245480; CCAAT/enhancer binding protein epsilon deficiency (CEBPE); Recurrent infection due to specific granule deficiency; Neutrophil lactoferrin deficiency; Neutrophils with bilobed nuclei; Congenital defects of phagocyte number or function
Primary immunodeficiency or monogenic inflammatory bowel disease v2.526 TLR8 Zornitza Stark changed review comment from: PMID 34981838: Monozygotic male twins, hemizygous for the G572V (maternally inherited), who had severe autoimmune haemolytic anaemia (AIHA) worsening with infections, and autoinflammation presenting as fevers, enteritis, arthritis and CNS vasculitis. Functional showed variant causes impaired stability of the TLR8 protein, cross-reactivity to TLR7 ligands and reduced ability of TLR8 to attenuate TLR7 signaling.; to: PMID 34981838: Monozygotic male twins, hemizygous for the G572V (maternally inherited), who had severe autoimmune haemolytic anaemia (AIHA) worsening with infections, and autoinflammation presenting as fevers, enteritis, arthritis and CNS vasculitis. Functional showed variant causes impaired stability of the TLR8 protein, cross-reactivity to TLR7 ligands and reduced ability of TLR8 to attenuate TLR7 signaling.

Further evidence for germline variants causing disease.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.526 TLR8 Zornitza Stark reviewed gene: TLR8: Rating: GREEN; Mode of pathogenicity: None; Publications: 34981838; Phenotypes: Immunodeficiency, bone marrow failure, Autoinflammatory syndrome MONDO:0019751; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Primary immunodeficiency or monogenic inflammatory bowel disease v2.526 CRACR2A Zornitza Stark gene: CRACR2A was added
gene: CRACR2A was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: CRACR2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRACR2A were set to PMID:34908525
Phenotypes for gene: CRACR2A were set to late onset combined immunodeficiency
Review for gene: CRACR2A was set to RED
Added comment: PMID:34908525 - one patient compound het (missense and PTC) with late onset combined immunodeficiency (current chest infections, panhypogammaglobulinemia and CD4+T cell lymphopenia). Functional studies showed defective JNK phosphorylation, defective SOCE and impaired cytokine production.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.526 ANGPT1 Boaz Palterer gene: ANGPT1 was added
gene: ANGPT1 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: ANGPT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ANGPT1 were set to 28601681
Phenotypes for gene: ANGPT1 were set to Hereditary Angioedema
Penetrance for gene: ANGPT1 were set to unknown
Review for gene: ANGPT1 was set to AMBER
Added comment: Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.526 PSMB9 Arina Puzriakova Added comment: Comment on mode of inheritance: Updated MOI from biallelic to monoallelic as all cases reported to date have harboured heterozygous variants in this gene (PMID: 26524591; 33727065; 34819510)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.526 PSMB9 Arina Puzriakova Mode of inheritance for gene: PSMB9 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary immunodeficiency or monogenic inflammatory bowel disease v2.525 PSMB9 Arina Puzriakova Publications for gene: PSMB9 were set to 26524591; 33727065
Primary immunodeficiency or monogenic inflammatory bowel disease v2.524 PSMB9 Arina Puzriakova edited their review of gene: PSMB9: Added comment: Kanazawa et al., 2021 (PMID: 34819510) identified a further two unrelated Japanese patients with the same de novo PSMB9 heterozygous missense variant as that identified in the previous study (c.467G>A/p.G156D). Both individuals displayed severe autoinflammatory phenotypes and pulmonary hypertension and later also manifested combined immunodeficiency with periodic inflammatory exacerbation. The variant lead to impaired immunoproteasome maturation and activity, and the proteasome defect and immunodeficient phenotypes were recapitulated in Psmb9(G156D/+) mice.; Changed publications to: 33727065, 34819510; Changed phenotypes to: Proteasome-associated autoinflammatory syndrome 3, digenic, OMIM:617591
Primary immunodeficiency or monogenic inflammatory bowel disease v2.524 ADA2 Arina Puzriakova Phenotypes for gene: ADA2 were changed from Polyarteritis nodosa; Polyarteritis nodosa, childhood-onset, 615688; ADA2 deficiency; Deficiency of ADA2 (DADA2); Other autoinflammatory diseases with known genetic defect; Fever with early onset stroke; combined immunodeficiency; Evans' syndrome; Polyarteritis nodosa, childhood-onset, early-onset recurrent ischemic stroke and fever; Autoinflammatory Disorders to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688; Polyarteritis nodosa, childhood-onset, early-onset recurrent ischemic stroke and fever; Autoinflammatory Disorders
Primary immunodeficiency or monogenic inflammatory bowel disease v2.523 CARD14 Arina Puzriakova Phenotypes for gene: CARD14 were changed from CARD14 mediated psoriasis; Psoriasis 2, 602723; Pityriasis rubra pilaris,173200; Other autoinflammatory diseases with known genetic defect; Psoriasis; Autoinflammatory Disorders; immune dysregulation to Pityriasis rubra pilaris, OMIM:173200; Psoriasis 2, OMIM:602723; Autoinflammatory Disorders
Primary immunodeficiency or monogenic inflammatory bowel disease v2.522 TNFAIP3 Arina Puzriakova Phenotypes for gene: TNFAIP3 were changed from A20 deficiency; Autoinflammatory syndrome, familial, Behcet-like, 616744; Autoimmune lymphoproliferative syndrome; Arthralgia, mucosal ulcers, ocular inflammation; Autoinflammatory Disorders to Autoinflammatory syndrome, familial, Behcet-like, OMIM:616744; Autoimmune lymphoproliferative syndrome; Arthralgia, mucosal ulcers, ocular inflammation
Primary immunodeficiency or monogenic inflammatory bowel disease v2.521 TMEM173 Arina Puzriakova Phenotypes for gene: TMEM173 were changed from STING-associated vasculopathy, infantile-onset 615934; Type 1 interferonopathies; Skin vasculopathy, inflammatory lung disease, systemic autoinflammation and ICC, FCL; Autoinflammatory Disorders to STING-associated vasculopathy, infantile-onset, OMIM:615934; Type 1 interferonopathies; Skin vasculopathy, inflammatory lung disease, systemic autoinflammation and ICC; Autoinflammatory Disorders
Primary immunodeficiency or monogenic inflammatory bowel disease v2.520 TNFRSF1A Arina Puzriakova Phenotypes for gene: TNFRSF1A were changed from Periodic fever, familial 142680; TNF-receptor associated periodic fever syndrome (TRAPS); Recurrent fever, serositis, rash, and ocular or joint inflammation; Autoinflammatory Disorders to Periodic fever, familial, OMIM:142680; TNF-receptor associated periodic fever syndrome (TRAPS); Recurrent fever, serositis, rash, and ocular or joint inflammation; Autoinflammatory Disorders
Primary immunodeficiency or monogenic inflammatory bowel disease v2.519 SH3BP2 Arina Puzriakova Phenotypes for gene: SH3BP2 were changed from Other autoinflammatory diseases with known genetic defect; Bone degeneration in jaws; Cherubism 118400; Autoinflammatory Disorders to Cherubism, OMIM:118400; Autoinflammatory Disorders
Primary immunodeficiency or monogenic inflammatory bowel disease v2.518 RBCK1 Arina Puzriakova Phenotypes for gene: RBCK1 were changed from Polyglucosan body myopathy, early-onset, with or without immunodeficiency 615895; Other autoinflammatory diseases with known genetic defect; HOIL1 deficiency; Bacterial infections, autoinflammation, amylopectinosis; Combined immunodeficiencies with associated or syndromic features to Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895; Bacterial infections, autoinflammation, amylopectinosis; Combined immunodeficiencies with associated or syndromic features
Primary immunodeficiency or monogenic inflammatory bowel disease v2.517 PSTPIP1 Arina Puzriakova Phenotypes for gene: PSTPIP1 were changed from Pyogenic sterile arthritis, pyoderma gangrenosum, and acne 604416; Proline/serine/threonine phosphatase-interacting protein 1 deficiency (PSTPIP1); PAPA syndrome; Hyperzincaemia hypercalprotectinaemia; Destructive arthritis, inflammatory skin rash, myositis; Autoinflammatory Disorders to Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, OMIM:604416; Destructive arthritis, inflammatory skin rash, myositis; Hyperzincaemia hypercalprotectinaemia; Autoinflammatory Disorders
Primary immunodeficiency or monogenic inflammatory bowel disease v2.516 PSMB8 Arina Puzriakova Phenotypes for gene: PSMB8 were changed from Autoinflammation, lipodystrophy, and dermatosis syndrome 256040; Other autoinflammatory diseases with known genetic defect; CANDLE syndrome; chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE); Contractures, panniculitis, ICC, fevers; Autoinflammatory Disorders to Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040; Autoinflammation, lipodystrophy, and dermatosis syndrome; Contractures, panniculitis, ICC, fevers; Autoinflammatory Disorders; CANDLE syndrome
Primary immunodeficiency or monogenic inflammatory bowel disease v2.515 PLCG2 Arina Puzriakova Phenotypes for gene: PLCG2 were changed from Autoinflammation, antibody deficiency, and immune dysregulation syndrome 614878; Familial cold autoinflammatory syndrome 3 614468; Hypogammaglobulinaemia, cold induced urticaria, autoinflammatory; Familial cold autoinflammatory syndrome 3; Other autoinflammatory diseases with known genetic defect; Cold urticaria hypogammaglobulinemia, autoinflammation; Autoinflammatory Disorders to Autoinflammation, antibody deficiency, and immune dysregulation syndrome, OMIM:614878; Familial cold autoinflammatory syndrome 3, OMIM:614468; Hypogammaglobulinaemia, cold induced urticaria, autoinflammatory
Primary immunodeficiency or monogenic inflammatory bowel disease v2.514 OTULIN Arina Puzriakova Phenotypes for gene: OTULIN were changed from Autoinflammation, panniculitis, and dermatosis syndrome, 617099; Fever, diarrhea , dermatitis; Autoinflammatory Disorders to Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099; Fever, diarrhoea, dermatitis; Autoinflammatory Disorders
Primary immunodeficiency or monogenic inflammatory bowel disease v2.513 NOD2 Arina Puzriakova Phenotypes for gene: NOD2 were changed from Blau syndrome 186580; Caspase recruitment domain-containing protein 15 deficiency (CARD15); Uveitis, granulomatous synovitis, camptodactyly, rash and cranial neuropathies, 30% develop Crohn colitis; Autoinflammatory Disorders to Blau syndrome, OMIM:186580; {Inflammatory bowel disease 1, Crohn disease}, OMIM:266600; {Yao syndrome}, OMIM:617321
Primary immunodeficiency or monogenic inflammatory bowel disease v2.512 NLRP3 Arina Puzriakova Phenotypes for gene: NLRP3 were changed from CINCA syndrome 607115; Muckle-Wells syndrome 191900; Familial cold autoinflammatory syndrome 1 120100; Deafness, autosomal dominant 34, with or without inflammation 617772; Non-pruritic urticaria, arthritis, chills, fever and leukocytosis after cold exposure; Autoinflammatory Disorders; Neonatal onset rash, chronic meningitis, and arthropathy with fever and inflammation; Urticaria, SNHL, amyloidosis to CINCA syndrome, OMIM:607115; Deafness, autosomal dominant 34, with or without inflammation, OMIM:617772; Familial cold inflammatory syndrome 1, OMIM:120100; Muckle-Wells syndrome, OMIM:191900
Primary immunodeficiency or monogenic inflammatory bowel disease v2.511 NLRP12 Arina Puzriakova Phenotypes for gene: NLRP12 were changed from Familial cold autoinflammatory syndrome 2, 611762; preterm premature rupture of membranes (PPROM); Non-pruritic urticaria, arthritis, chills, fever and leukocytosis after cold exposure.; Autoinflammatory Disorders to Familial cold autoinflammatory syndrome 2, OMIM:611762; Non-pruritic urticaria, arthritis, chills, fever and leukocytosis after cold exposure; Preterm premature rupture of membranes (PPROM); Autoinflammatory Disorders
Primary immunodeficiency or monogenic inflammatory bowel disease v2.510 NLRC4 Arina Puzriakova Phenotypes for gene: NLRC4 were changed from ?Familial cold autoinflammatory syndrome 4 616115; Autoinflammation with infantile enterocolitis 616050; Severe enterocolitis and macrophage activation syndrome; Autoinflammatory Disorders to Autoinflammation with infantile enterocolitis, OMIM:616050; ?Familial cold autoinflammatory syndrome 4, OMIM:616115; Severe enterocolitis and macrophage activation syndrome; Autoinflammatory Disorders
Primary immunodeficiency or monogenic inflammatory bowel disease v2.509 MVK Arina Puzriakova Phenotypes for gene: MVK were changed from Hyper-IgD syndrome 260920; Mevalonic aciduria 610377; Hyper IgD syndrome (MVK); Periodic fever and leukocytosis with high IgD levels; Autoinflammatory Disorders to Hyper-IgD syndrome, OMIM:260920; Mevalonic aciduria, OMIM:610377; Periodic fever and leukocytosis with high IgD levels; Autoinflammatory Disorders
Primary immunodeficiency or monogenic inflammatory bowel disease v2.508 MEFV Arina Puzriakova Phenotypes for gene: MEFV were changed from Familial Mediterranean fever, AD 134610; Familial Mediterranean fever, AR 249100; Familial mediterranean fever defect; Recurrent fever, serositis and inflammation responsive to colchicine. Predisoposes to vasculitis and inflammatory bowel disease.; Autoinflammatory Disorders to Familial Mediterranean fever, AD, OMIM:134610; Familial Mediterranean fever, AR, OMIM:249100; Neutrophilic dermatosis, acute febrile, OMIM:608068; Recurrent fever, serositis and inflammation responsive to colchicine; Predisposes to vasculitis and inflammatory bowel disease; Autoinflammatory Disorders
Primary immunodeficiency or monogenic inflammatory bowel disease v2.507 LPIN2 Arina Puzriakova Phenotypes for gene: LPIN2 were changed from Majeed syndrome 609628; Other autoinflammatory diseases with known genetic defect; Chronic recurrent multifocal osteomyelitis, transfusion-dependent anemia, cutaneous inflammatory disorders; Autoinflammatory Disorders to Majeed syndrome, OMIM:609628; Chronic recurrent multifocal osteomyelitis, transfusion-dependent anemia, cutaneous inflammatory disorders; Autoinflammatory Disorders
Primary immunodeficiency or monogenic inflammatory bowel disease v2.506 IL36RN Arina Puzriakova Phenotypes for gene: IL36RN were changed from Psoriasis 14, generalized pustular 614204; Other autoinflammatory diseases with known genetic defect; Pustular psoriasis; Autoinflammatory Disorders to Psoriasis 14, pustular, OMIM:614204; Autoinflammatory Disorders
Primary immunodeficiency or monogenic inflammatory bowel disease v2.505 IL1RN Arina Puzriakova Phenotypes for gene: IL1RN were changed from Interleukin 1 receptor antagonist deficiency 612852; sterile multifocal osteomyelitis, periostitis, and pustulosis; Other autoinflammatory diseases with known genetic defect; DIRA; Neonatal onset of sterile multifocal osteomyelitis, periostitis and pustulosis.; Autoinflammatory Disorders to Interleukin 1 receptor antagonist deficiency, OMIM:612852; Sterile multifocal osteomyelitis, periostitis, and pustulosis; DIRA; Autoinflammatory Disorders
Primary immunodeficiency or monogenic inflammatory bowel disease v2.504 MYO5B Arina Puzriakova Phenotypes for gene: MYO5B were changed from Microvillus inclusion disease 251850 to Diarrhea 2, with microvillus atrophy, OMIM:251850
Primary immunodeficiency or monogenic inflammatory bowel disease v2.503 AGR2 Arina Puzriakova Tag Q1_22_rating tag was added to gene: AGR2.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.503 AGR2 Arina Puzriakova Classified gene: AGR2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.503 AGR2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Dmitrijs Rots (RadboudUMC). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.503 AGR2 Arina Puzriakova Gene: agr2 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.502 AGR2 Arina Puzriakova Publications for gene: AGR2 were set to PMID: 34952832
Primary immunodeficiency or monogenic inflammatory bowel disease v2.501 AGR2 Arina Puzriakova Phenotypes for gene: AGR2 were changed from CF-like disorder to Cystic fibrosis-like syndrome
Primary immunodeficiency or monogenic inflammatory bowel disease v2.500 CARD10 Arina Puzriakova changed review comment from: Comment on list classification: New gene added by Zornitza Stark. Rating Red at present only a single family has been reported as affected by immunodeficiency with autoimmunity due to a homozygoys variant in this gene (PMID: 32238915); to: Comment on list classification: New gene added by Zornitza Stark. Rating Red as at present only a single family has been reported as affected by immunodeficiency with autoimmunity due to a homozygoys variant in this gene (PMID: 32238915)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.500 CARD10 Arina Puzriakova Classified gene: CARD10 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.500 CARD10 Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Rating Red at present only a single family has been reported as affected by immunodeficiency with autoimmunity due to a homozygoys variant in this gene (PMID: 32238915)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.500 CARD10 Arina Puzriakova Gene: card10 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.499 CARD10 Arina Puzriakova Phenotypes for gene: CARD10 were changed from Immunodeficiency 89 and autoimmunity, MIM# 619632 to Immunodeficiency 89 and autoimmunity, OMIM:619632
Primary immunodeficiency or monogenic inflammatory bowel disease v2.498 AGR2 Dmitrijs Rots gene: AGR2 was added
gene: AGR2 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: AGR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGR2 were set to PMID: 34952832
Phenotypes for gene: AGR2 were set to CF-like disorder
Penetrance for gene: AGR2 were set to Complete
Review for gene: AGR2 was set to GREEN
Added comment: 13 individuals reported in PMID: 34952832 with Cystic Fibrosis like phenotype, including respiratory infections present in 13/13 individuals.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.498 IKZF2 Boaz Palterer edited their review of gene: IKZF2: Changed publications to: 34826260, 34920454
Primary immunodeficiency or monogenic inflammatory bowel disease v2.498 IKZF2 Boaz Palterer gene: IKZF2 was added
gene: IKZF2 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: IKZF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IKZF2 were set to 34826260
Phenotypes for gene: IKZF2 were set to combined immunodeficiency; thrush; mucosal ulcers; chronic lymphoadenopathy; reduced MAIT cells
Penetrance for gene: IKZF2 were set to unknown
Added comment: Patients carrying the IKZF2 variant presented with a combined immunodeficiency phenotype characterized by recurrent upper respiratory infections, thrush and mucosal ulcers, and chronic lymphadenopathy. Reduced Helios expression was associated with chronic T cell activation and increased production of proinflammatory cytokines both in effector and regulatory T cells.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.498 RHBDF2 Boaz Palterer gene: RHBDF2 was added
gene: RHBDF2 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: RHBDF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RHBDF2 were set to Pneumonia; Colitis; Immunodeficiency
Penetrance for gene: RHBDF2 were set to unknown
Review for gene: RHBDF2 was set to RED
Added comment: iRHOM deficiency with Respiratory and Intestinal inflammation and cytokine Secretion defect’ (IRIS): Kubo et al. (https://www.nature.com/articles/s41590-021-01093-y) described a new immunodeficiency disease due to loss-of-function mutations in RHBDF2, the gene encoding iRHOM2, in 4 subjects across two kindreds with recurrent infections in different organs. The disease presentation is pleiotropic, with one patient with recurrent pneumonia but no colon involvement, another had recurrent infectious hemorrhagic colitis but no lung involvement and the other two experienced recurrent respiratory infections. They replicated the phenotype in a KO mouse model and provided functional data.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.498 CARD10 Zornitza Stark gene: CARD10 was added
gene: CARD10 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: CARD10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CARD10 were set to 32238915
Phenotypes for gene: CARD10 were set to Immunodeficiency 89 and autoimmunity, MIM# 619632
Review for gene: CARD10 was set to RED
Added comment: A pair of siblings reported with adult onset of recurrent infections, allergies, microcytic anaemia, and Crohn disease. Homozygous missense variant.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.498 RNASEH2B Arina Puzriakova Phenotypes for gene: RNASEH2B were changed from Aicardi-Goutieres syndrome 2 610181; Type 1 interferonopathies; Classical AGS, SP; Autoinflammatory Disorders to Aicardi-Goutieres syndrome 2, OMIM:610181
Primary immunodeficiency or monogenic inflammatory bowel disease v2.497 IFIH1 Arina Puzriakova Phenotypes for gene: IFIH1 were changed from Aicardi-Goutieres syndrome 7 (AD); Classical AGS, SLE, SP, SMS; Autoinflammatory Disorders; Rhinovirus and other RNA viruses (AR); susceptibility to RNA viruses; Defects in Intrinsic and Innate Immunity to Aicardi-Goutieres syndrome 7, OMIM:615846 (AD); Singleton-Merten syndrome 1, OMIM:182250 (AD); Susceptibility to RNA viruses (AR)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.496 CLPB Arina Puzriakova changed review comment from: Comment on mode of inheritance: MOI should be updated from 'Biallelic' to 'Both mono- and biallelic' at the next GMS update.

Association between biallelic variants and disease is well established, with more than >10 affected individuals reported. Recently, Wortmann et al. 2021 (PMID: 34140661) published six unrelated individuals with one of four different de novo monoallelic missense variants in CLPB. The phenotype strongly overlapped with that observed in the recessive disease, including moderate to severe congenital/early-onset neutropenia in 5/6 cases. Some functional studies of heterozygous variants were performed.; to: Comment on mode of inheritance: MOI should be updated from 'Biallelic' to 'Both mono- and biallelic' at the next GMS update.

Association between biallelic variants and disease is well established, with more than 10 affected individuals reported. Recently, Wortmann et al. 2021 (PMID: 34140661) published six unrelated individuals with one of four different de novo monoallelic missense variants in CLPB. The phenotype strongly overlapped with that observed in the recessive disease, including moderate to severe congenital/early-onset neutropenia in 5/6 cases. Some functional studies of heterozygous variants were performed.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.496 CLPB Arina Puzriakova Tag Q4_21_MOI tag was added to gene: CLPB.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.496 CLPB Arina Puzriakova Publications for gene: CLPB were set to 27891836; 25597510; 28687938; 25597511; 25650066; 26916670
Primary immunodeficiency or monogenic inflammatory bowel disease v2.495 CLPB Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be updated from 'Biallelic' to 'Both mono- and biallelic' at the next GMS update.

Association between biallelic variants and disease is well established, with more than >10 affected individuals reported. Recently, Wortmann et al. 2021 (PMID: 34140661) published six unrelated individuals with one of four different de novo monoallelic missense variants in CLPB. The phenotype strongly overlapped with that observed in the recessive disease, including moderate to severe congenital/early-onset neutropenia in 5/6 cases. Some functional studies of heterozygous variants were performed.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.495 CLPB Arina Puzriakova Mode of inheritance for gene: CLPB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.494 CLPB Arina Puzriakova Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII; 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271; 3-methylglutaconic aciduria, type 7; Recurrent or severe infection; Neurocognitive developmental aberrations, microcephaly, hypoglycemia, hypotonia, ataxia, seizures, cataracts, IUGR; Congenital defects of phagocyte number or function to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, OMIM:616271
Primary immunodeficiency or monogenic inflammatory bowel disease v2.493 IKZF3 Arina Puzriakova changed review comment from: Comment on mode of inheritance: Upgraded from Red to Amber but there is now enough evidence to promote this gene to Green at the next GMS panel update. Two unrelated families displaying comparable immunologic disorders including T and B cell abnormalities with recurrent infections (PMID: 34155405; 34694366). Strong functional support including animal model and in vitro studies.; to: Comment on list classification: Upgraded from Red to Amber but there is now enough evidence to promote this gene to Green at the next GMS panel update. Two unrelated families displaying comparable immunologic disorders including T and B cell abnormalities with recurrent infections (PMID: 34155405; 34694366). Strong functional support including animal model and in vitro studies.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.493 IKZF3 Arina Puzriakova Classified gene: IKZF3 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.493 IKZF3 Arina Puzriakova Gene: ikzf3 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.492 IKZF3 Arina Puzriakova edited their review of gene: IKZF3: Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v2.492 IKZF3 Arina Puzriakova Added comment: Comment on mode of inheritance: Upgraded from Red to Amber but there is now enough evidence to promote this gene to Green at the next GMS panel update. Two unrelated families displaying comparable immunologic disorders including T and B cell abnormalities with recurrent infections (PMID: 34155405; 34694366). Strong functional support including animal model and in vitro studies.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.492 IKZF3 Arina Puzriakova Mode of inheritance for gene: IKZF3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v2.491 IKZF3 Arina Puzriakova Added comment: Comment on mode of pathogenicity: Variants discovered to date located in DNA binding domain of IKZF3/AIOLOS, with dominant-negative effect on WT.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.491 IKZF3 Arina Puzriakova Mode of pathogenicity for gene: IKZF3 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Primary immunodeficiency or monogenic inflammatory bowel disease v2.490 IKZF3 Arina Puzriakova Publications for gene: IKZF3 were set to 34155405
Primary immunodeficiency or monogenic inflammatory bowel disease v2.489 IKZF3 Arina Puzriakova Tag Q4_21_rating tag was added to gene: IKZF3.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.489 IKZF3 Arina Puzriakova Phenotypes for gene: IKZF3 were changed from B cell deficiency; EBV inefctions suspectibility; hypogammaglobulinemia to Immunodeficiency 84, OMIM:619437
Primary immunodeficiency or monogenic inflammatory bowel disease v2.488 DEF6 Arina Puzriakova Tag Q4_21_rating tag was added to gene: DEF6.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.488 DEF6 Arina Puzriakova Classified gene: DEF6 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.488 DEF6 Arina Puzriakova Added comment: Comment on list classification: There are now at least 3 unrelated cases of immunodeficiency associated with different biallelic variants in this gene (PMID:31308374; 32562707). DEF6 is also associated with a relevant phenotype in OMIM (MIM# 619573) and should be promoted to Green at the next GMS panel update (tagged).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.488 DEF6 Arina Puzriakova Gene: def6 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.487 DEF6 Arina Puzriakova Publications for gene: DEF6 were set to 32086639; 31308374; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.486 DEF6 Arina Puzriakova Phenotypes for gene: DEF6 were changed from DEF6 deficiency; Enteropathy, hepatosplenomegaly, cardiomyopathy, recurrent infections; Diseases of Immune Dysregulation to Immunodeficiency 87 and autoimmunity, OMIM:619573; Enteropathy, hepatosplenomegaly, cardiomyopathy, recurrent infections
Primary immunodeficiency or monogenic inflammatory bowel disease v2.485 UBA1 Dmitrijs Rots reviewed gene: UBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34048852; Phenotypes: VEXAS autoinflammatory condition; Mode of inheritance: Other
Primary immunodeficiency or monogenic inflammatory bowel disease v2.485 CNBP Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Primary immunodeficiency or monogenic inflammatory bowel disease v2.485 CNBP Arina Puzriakova Mode of inheritance for gene: CNBP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
Primary immunodeficiency or monogenic inflammatory bowel disease v2.484 ZNFX1 Sophie Hambleton reviewed gene: ZNFX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.484 CSF2RA Ivone Leong Tag Pseudoautosomal region 1 tag was added to gene: CSF2RA.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.484 CXCR2 Sophie Hambleton reviewed gene: CXCR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.484 CTNNBL1 Sophie Hambleton reviewed gene: CTNNBL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.484 EXTL3 Arina Puzriakova Phenotypes for gene: EXTL3 were changed from Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425; EXTL3 deficiency; Platyspondyly, kyphosis, variable skeletal dysplasias, developmental delay; Combined immunodeficiencies with associated or syndromic features to Immunoskeletal dysplasia with neurodevelopmental abnormalities, OMIM:617425
Primary immunodeficiency or monogenic inflammatory bowel disease v2.483 RNU7-1 Arina Puzriakova Publications for gene: RNU7-1 were set to 33230297
Primary immunodeficiency or monogenic inflammatory bowel disease v2.482 COL7A1 Arina Puzriakova Publications for gene: COL7A1 were set to 18363753; 23517353; 33346580
Primary immunodeficiency or monogenic inflammatory bowel disease v2.481 PI4KA Ivone Leong commented on gene: PI4KA: There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.

Review by Sophie Hambleton (Newcastle University):

"The immunological abnormalities in PI4KA def are obviously rather variable and a slight side-show to the primary GI and neurologic pathology – however that is a detail that should come out when any putative case is reviewed in detail so I would include this as a “CID with associated or syndromic features” on the same basis as TTC7A"
Primary immunodeficiency or monogenic inflammatory bowel disease v2.481 PI4KA Ivone Leong Entity copied from Ataxia and cerebellar anomalies - narrow panel v2.243
Primary immunodeficiency or monogenic inflammatory bowel disease v2.481 PI4KA Ivone Leong gene: PI4KA was added
gene: PI4KA was added to Primary immunodeficiency. Sources: Expert Review Amber
Q3_21_rating tags were added to gene: PI4KA.
Mode of inheritance for gene: PI4KA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PI4KA were set to 25855803; 34415322; 34415310
Phenotypes for gene: PI4KA were set to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531
Primary immunodeficiency or monogenic inflammatory bowel disease v2.480 COL7A1 Sophie Hambleton reviewed gene: COL7A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 32084423; Phenotypes: epidermolysis bullosa, bloody diarrhoea; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.480 RNU7-1 Sophie Hambleton reviewed gene: RNU7-1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.480 IKZF3 Boaz Palterer edited their review of gene: IKZF3: Changed publications to: 34694366, 34155405
Primary immunodeficiency or monogenic inflammatory bowel disease v2.480 IKZF3 Boaz Palterer edited their review of gene: IKZF3: Added comment: New kindred with 4 affected subjects reported with autosomal dominant IKZF3 variant ( p.N160S ) by Kuehn et al.; Changed publications to: 34694366; Changed phenotypes to: B cell deficiency, EBV inefctions suspectibility, hypogammaglobulinemia, T and B cell abnormalities, pneumocystis pneumonia, chronic lymphocytic leukemia
Primary immunodeficiency or monogenic inflammatory bowel disease v2.480 DEF6 Dmitrijs Rots reviewed gene: DEF6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32562707; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.480 CLCN7 Arina Puzriakova Mode of inheritance for gene: CLCN7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.479 CLCN7 Arina Puzriakova Phenotypes for gene: CLCN7 were changed from Osteopetrosis, autosomal recessive 4, OMIM:611490; Osteopetrosis, autosomal dominant 2, OMIM:166600 to Osteopetrosis, autosomal recessive 4, OMIM:611490; Osteopetrosis, autosomal dominant 2, OMIM:166600
Primary immunodeficiency or monogenic inflammatory bowel disease v2.479 CLCN7 Arina Puzriakova Phenotypes for gene: CLCN7 were changed from Defects in Intrinsic and Innate Immunity; Osteopetrosis with hypocalcemia, neurologic features to Osteopetrosis, autosomal recessive 4, OMIM:611490; Osteopetrosis, autosomal dominant 2, OMIM:166600
Primary immunodeficiency or monogenic inflammatory bowel disease v2.478 XIAP Ivone Leong Publications for gene: XIAP were set to 26581487; 21119115; 23973892; 17080092; 21173700; 22228567; 23131490; 25943627; 31754776
Primary immunodeficiency or monogenic inflammatory bowel disease v2.477 XIAP Ivone Leong reviewed gene: XIAP: Rating: ; Mode of pathogenicity: None; Publications: 32686289, 25943627, 24942515, 29501442; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.477 SLC29A3 Arina Puzriakova Phenotypes for gene: SLC29A3 were changed from Histiocytosis-lymphadenopathy plus syndrome 602782; Other autoinflammatory diseases with known genetic defect; Hyperpigmentation hypertrichosis, histiocytosis-lymphadenopathy plus syndrome; Autoinflammatory Disorders to Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782; Hyperpigmentation hypertrichosis, histiocytosis-lymphadenopathy plus syndrome; Autoinflammatory Disorders
Primary immunodeficiency or monogenic inflammatory bowel disease v2.476 KDM6A Arina Puzriakova Publications for gene: KDM6A were set to 25142838; 15523604; 32048120; 25546742; 15887282; 32086639; 26411453; 22197486; 23076834; 31363182
Primary immunodeficiency or monogenic inflammatory bowel disease v2.475 KMT2A Arina Puzriakova Classified gene: KMT2A as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.475 KMT2A Arina Puzriakova Added comment: Comment on list classification: Upgraded from Red to Amber but there is enough evidence to promote to Green at the next GMS panel update.

Immune dysfunction, including early-onset CVID and recurrent infections, have been reported in multiple individuals with Wiedemann-Steiner syndrome. Immunopathology can be a presenting feature, and as there are sufficient unrelated cases with this phenotype, this gene should be promoted to Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.475 KMT2A Arina Puzriakova Gene: kmt2a has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.474 KMT2A Arina Puzriakova Publications for gene: KMT2A were set to 32048120; 27320412; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.473 KMT2A Arina Puzriakova Tag Q3_21_rating tag was added to gene: KMT2A.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.473 KMT2A Arina Puzriakova Phenotypes for gene: KMT2A were changed from Wiedemann-Steiner syndrome with Congenital immunodeficiency; Unclassified antibody deficiency; Respiratory infections, short stature, hypertelorism, hairy elbows, developmental delay, intellectual disability; Combined immunodeficiencies with associated or syndromic features to Wiedemann-Steiner syndrome, OMIM:605130
Primary immunodeficiency or monogenic inflammatory bowel disease v2.472 PSMB9 Arina Puzriakova Publications for gene: PSMB9 were set to 26524591
Primary immunodeficiency or monogenic inflammatory bowel disease v2.471 PSMB4 Arina Puzriakova Publications for gene: PSMB4 were set to 26524591
Primary immunodeficiency or monogenic inflammatory bowel disease v2.470 PSMB9 Arina Puzriakova reviewed gene: PSMB9: Rating: ; Mode of pathogenicity: None; Publications: 33727065; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary immunodeficiency or monogenic inflammatory bowel disease v2.470 PSMB4 Arina Puzriakova reviewed gene: PSMB4: Rating: ; Mode of pathogenicity: None; Publications: 34416217; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.470 PSMB9 Arina Puzriakova Phenotypes for gene: PSMB9 were changed from Autoinflammation, lipodystrophy, and dermatosis syndrome; CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome) to Proteasome-associated autoinflammatory syndrome 3, digenic, OMIM:617591; CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.469 PSMB4 Arina Puzriakova Phenotypes for gene: PSMB4 were changed from CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome) to Proteasome-associated autoinflammatory syndrome 3 and digenic forms, OMIM:617591; CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.468 KMT2A Dmitrijs Rots reviewed gene: KMT2A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33783954, 28623346, 27320412; Phenotypes: Hypogammaglobulinemia, intellectual disability, hypertrichosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v2.468 KDM6A Dmitrijs Rots changed review comment from: Immunodeficiency is a well-known and common feature of KS. Recent study shows:
"Overall, 44.1% (78/177) and 58.2% (46/79) of KS individuals exhibited infection susceptibility and hypogammaglobulinemia, respectively"; to: Immunodeficiency is a well-known and common feature of KS. Recent study shows:
"Overall, 44.1% (78/177) and 58.2% (46/79) of KS individuals exhibited infection susceptibility and hypogammaglobulinemia, respectively"

The gene is also included in Inborn errors of immunity classification: PMID 31953710
Primary immunodeficiency or monogenic inflammatory bowel disease v2.468 B2M Eleanor Williams Added comment: Comment on mode of inheritance: Biallelic mode of inheritance is correct for Immunodeficiency 43. OMIM also has an entry for ?Amyloidosis, familial visceral, OMIM:105200 - Autosomal dominant but this phenotype is not relevant to this panel.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.468 B2M Eleanor Williams Mode of inheritance for gene: B2M was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.467 KDM6A Arina Puzriakova Phenotypes for gene: KDM6A were changed from Typical facial abnormalities, cleft or high arched palate, skeletal abnormalities, short stature, intellectual disability, congenital heart defects, recurrent infections (otitis media, pneumonia) in 50% of patients. Autoimmunity may be present; Kabuki Syndrome 2 due to KDM6A deficiency; Combined immunodeficiencies with associated or syndromic features to Kabuki syndrome 2, OMIM:300867; Recurrent infections (otitis media, pneumonia); Autoimmunity; Combined immunodeficiencies with associated or syndromic features
Primary immunodeficiency or monogenic inflammatory bowel disease v2.466 KDM6A Arina Puzriakova Publications for gene: KDM6A were set to 25142838; 15523604; 32048120; 25546742; 15887282; 32086639; 26411453; 22197486; 23076834
Primary immunodeficiency or monogenic inflammatory bowel disease v2.465 KDM6A Arina Puzriakova Tag Q3_21_expert_review tag was added to gene: KDM6A.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.465 KDM6A Arina Puzriakova commented on gene: KDM6A
Primary immunodeficiency or monogenic inflammatory bowel disease v2.465 KMT2D Arina Puzriakova Tag Q3_21_rating tag was added to gene: KMT2D.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.465 KMT2D Arina Puzriakova Publications for gene: KMT2D were set to 25142838; 15523604; 21671394; 32048120; 15887282; 21607748; 32086639; 23913813; 26411453
Primary immunodeficiency or monogenic inflammatory bowel disease v2.464 KMT2D Arina Puzriakova Classified gene: KMT2D as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.464 KMT2D Arina Puzriakova Added comment: Comment on list classification: Immunopathological manifestations are seen in ~50% of cases with KMT2D-related Kabuki syndrome. There is sufficient evidence to support this gene-disease association and therefore this gene should be promoted to Green status at the next GMS panel update.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.464 KMT2D Arina Puzriakova Gene: kmt2d has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.463 KMT2D Arina Puzriakova Phenotypes for gene: KMT2D were changed from Kabuki syndrome 1, 147920; Typical facial abnormalities, cleft or high arched palate, skeletal abnormalities, short stature, intellectual disability, congenital heart defects, recurrent infections (otitis media, pneumonia) in 50% of patients. Autoimmunity may be present; Combined immunodeficiencies with associated or syndromic features to Kabuki syndrome 1, OMIM:147920; Hypogammaglobulinemia; Recurrent infections (otitis media, pneumonia); Autoimmunity
Primary immunodeficiency or monogenic inflammatory bowel disease v2.462 DCLRE1B Arina Puzriakova Tag Q3_21_expert_review tag was added to gene: DCLRE1B.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.462 DCLRE1B Arina Puzriakova reviewed gene: DCLRE1B: Rating: ; Mode of pathogenicity: None; Publications: 20479256; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.462 ELF4 Arina Puzriakova Phenotypes for gene: ELF4 were changed from X-linked hypogammaglobulinemia with isolated growth hormone deficiency to Inflammatory bowel disease; Mucosal inflammation; Fever; Ulcers; Behcet-like disease; X-linked hypogammaglobulinemia with isolated growth hormone deficiency
Primary immunodeficiency or monogenic inflammatory bowel disease v2.461 ELF4 Arina Puzriakova Classified gene: ELF4 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.461 ELF4 Arina Puzriakova Added comment: Comment on list classification: Upgraded from Red to Amber but there is enough evidence to rate this gene as Green at the next GMS panel update. At least two variants identified in three unrelated individuals with autoinflammatory disease characterised by fever, oral ulcers and mucosal inflammation. Supported by functional studies and mouse model.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.461 ELF4 Arina Puzriakova Gene: elf4 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.460 ELF4 Arina Puzriakova Tag Q3_21_rating tag was added to gene: ELF4.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.460 ELF4 Arina Puzriakova Publications for gene: ELF4 were set to 16264330
Primary immunodeficiency or monogenic inflammatory bowel disease v2.459 ELF4 Arina Puzriakova Mode of inheritance for gene: ELF4 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Primary immunodeficiency or monogenic inflammatory bowel disease v2.458 ELF4 Dmitrijs Rots reviewed gene: ELF4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34326534; Phenotypes: Ulcers, fever, inflammatory bowel disease, autoinflammatory condition; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Primary immunodeficiency or monogenic inflammatory bowel disease v2.458 KDM6A Dmitrijs Rots Deleted their comment
Primary immunodeficiency or monogenic inflammatory bowel disease v2.458 KDM6A Dmitrijs Rots edited their review of gene: KDM6A: Added comment: Immunodeficiency is a well-known and common feature of KS. Recent study shows:
"Overall, 44.1% (78/177) and 58.2% (46/79) of KS individuals exhibited infection susceptibility and hypogammaglobulinemia, respectively"; Changed publications to: PMID: 31363182; Changed phenotypes to: Hypogammaglobulinemia, intellectual disability, short stature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.458 KDM6A Dmitrijs Rots reviewed gene: KDM6A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34326534; Phenotypes: Autoinflammatory, inflammatory bowel disease, ulcers; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.458 KMT2D Dmitrijs Rots reviewed gene: KMT2D: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31363182; Phenotypes: Hypogammaglobulinemia, intellectual disability, short stature; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.458 DCLRE1B Zornitza Stark edited their review of gene: DCLRE1B: Changed mode of inheritance: Unknown
Primary immunodeficiency or monogenic inflammatory bowel disease v2.458 DCLRE1B Zornitza Stark reviewed gene: DCLRE1B: Rating: RED; Mode of pathogenicity: None; Publications: 20479256, 21647296; Phenotypes: Dyskeratosis congenita and Hoyeraal-Hreidarsson (HH) syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.458 MCM4 Arina Puzriakova Classified gene: MCM4 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.458 MCM4 Arina Puzriakova Added comment: Comment on list classification: Gene was reassessed following a recent Amber review by Zornitza Stark. Although there has only been a single founder variant reported to date, the rating was based on multiple Green GMS expert reviews and the functional support was deemed sufficiently compelling. Therefore, the Green gene rating will be maintained on this panel.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.458 MCM4 Arina Puzriakova Gene: mcm4 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.457 GIMAP5 Arina Puzriakova Phenotypes for gene: GIMAP5 were changed from lymphopenia; autoimmunity; immunodeficiency; liver disease to Portal hypertension, noncirrhotic, 2, OMIM:619463; lymphopenia; autoimmunity; immunodeficiency; liver disease
Primary immunodeficiency or monogenic inflammatory bowel disease v2.456 GIMAP5 Arina Puzriakova Publications for gene: GIMAP5 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v2.455 GIMAP5 Arina Puzriakova commented on gene: GIMAP5: Cannot access new publication identified by Zornitza Stark (PMID:33956074) - free text will be available from 05/01/2022. OMIM entry states that "some patients may have recurrent infections or features suggestive of an immunodeficiency" but it is unclear how many individuals were affected and to what extent. Liver dysfunction (portal hypertension, liver failure) seems to be the more prominent phenotype in these cases but currently there are no relevant PanelApp panels for this. Therefore, I will maintain the Amber rating at this time, until publications become available or further evidence emerges.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.455 LAMTOR2 Arina Puzriakova Classified gene: LAMTOR2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.455 LAMTOR2 Arina Puzriakova Added comment: Comment on list classification: Gene was reassessed following a recent Amber review by Zornitza Stark. Although there has only been one family reported to date, the rating was based on multiple Green GMS expert reviews as the functional support was deemed sufficiently compelling. Therefore, the Green gene rating will be maintained on this panel.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.455 LAMTOR2 Arina Puzriakova Gene: lamtor2 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.454 RGS10 Arina Puzriakova Classified gene: RGS10 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.454 RGS10 Arina Puzriakova Added comment: Comment on list classification: New gene added by Boaz Palterer. Single family with 3 affected sibs reported (PMID:34315806), who presented with short stature and immunodeficiency and harboured compound het variants in RGS10 that segregated with disease. However, the sibs also carried a heterozygous PIK3CD (E525K) variant that has previously been deemed pathogenic in Activated PI3 Kinase Delta Syndrome (APDS), a primary immunodeficiency. The variant was excluded as the father also carried the PIK3CD variant but was mostly healthy and none of the 3 affected sibs displayed the full spectrum of symptoms associated with APDS. Nonetheless, APDS is a clinically heterogeneous condition with variable penetrance among affected individuals and so the contribution of PIK3CD to the patients immune dysregulation cannot be completely ruled out.

There are no further reports of an association between RGS10 variants and immunodeficiency to date, and therefore rating Red until further evidence emerges.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.454 RGS10 Arina Puzriakova Gene: rgs10 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.453 ARHGAP42 Arina Puzriakova Classified gene: ARHGAP42 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.453 ARHGAP42 Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Only a single individual reported to date with a homozygous stop-gain variant in ARHGAP42 associated with immunological findings, among other features (PMID: 34232960). Rating Red, awaiting further evidence.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.453 ARHGAP42 Arina Puzriakova Gene: arhgap42 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.452 GIMAP5 Zornitza Stark reviewed gene: GIMAP5: Rating: GREEN; Mode of pathogenicity: None; Publications: 33956074; Phenotypes: Portal hypertension, noncirrhotic, 2, MIM# 619463; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.452 ARHGAP42 Zornitza Stark gene: ARHGAP42 was added
gene: ARHGAP42 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: ARHGAP42 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARHGAP42 were set to 34232960
Phenotypes for gene: ARHGAP42 were set to Interstitial lung disease; systemic hypertension; immunological abnormalities
Review for gene: ARHGAP42 was set to RED
Added comment: Single individual reported with homozygous LoF variant, chILD disorder, systemic hypertension, and immunological findings.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.452 MCM4 Zornitza Stark reviewed gene: MCM4: Rating: AMBER; Mode of pathogenicity: None; Publications: 22354167, 22354170, 22499342; Phenotypes: Immunodeficiency 54, MIM# 609981; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.452 RGS10 Boaz Palterer gene: RGS10 was added
gene: RGS10 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: RGS10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RGS10 were set to 34315806
Phenotypes for gene: RGS10 were set to short stature; GH deficiency; immunodeficiency; hypergammaglobulinemia; reduced lymphocyte chemotaxis
Penetrance for gene: RGS10 were set to unknown
Review for gene: RGS10 was set to AMBER
Added comment: Chinn et al. a kindred with three affected siblings presenting with short stature and immunodeficiency and segregating with biallelic variants in RGS10 (c.489_491del:p.E163del and c.G511T:p.A171S). The affected individuals exhibited systemic abnormalities directly related to the RGS10 mutations, including recurrent infections, hypergammaglobulinemia, profoundly reduced lymphocyte chemotaxis, abnormal lymph node architecture, and short stature due to growth hormone deficiency. Some functional data is presented.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.452 ELF4 Boaz Palterer reviewed gene: ELF4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Inflammatory bowel disease, IBD, mucosal inflammation, fever, ulcers, Behcet-like disease; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Primary immunodeficiency or monogenic inflammatory bowel disease v2.452 LAMTOR2 Zornitza Stark reviewed gene: LAMTOR2: Rating: AMBER; Mode of pathogenicity: None; Publications: 17195838, 24092934; Phenotypes: Immunodeficiency due to defect in MAPBP-interacting protein, MIM# 610798; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.452 CXCR2 Arina Puzriakova Phenotypes for gene: CXCR2 were changed from WHIM syndrome 2 619407 to WHIM syndrome 2, OMIM:619407
Primary immunodeficiency or monogenic inflammatory bowel disease v2.451 CXCR2 Arina Puzriakova Classified gene: CXCR2 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.451 CXCR2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Only a single family with variants in this gene and WHIM syndrome described to date. Rating Red until further evidence emerges.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.451 CXCR2 Arina Puzriakova Gene: cxcr2 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.450 PLG Arina Puzriakova Tag founder-effect was removed from gene: PLG.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.450 PLG Arina Puzriakova changed review comment from: Comment on list classification: Discussed with Helen Brittain (Genomics England Clinical Team) regarding the founder effect and reduced penetrance associated with the angioedema-specific variant (c.988A>G, p.K330E) in this gene - 'it goes slightly against our usual rule of needing another source to corroborate that it is the variant itself, but the evidence is reasonably compelling and this is harder if there happens to be a narrow pathogenic variant spectrum e.g. gain of function missense. In view of the reduced penetrance, and this slight doubt, I would prefer to ask the opinion of the evaluation working group'

Therefore rating Amber with the recommendation of expert review at the next GMS panel update (tagged)

Note: this phenotype is also now listed in OMIM (MIM# 619360); to: Comment on list classification: Discussed with Helen Brittain (Genomics England Clinical Team) regarding the reduced penetrance and recurrence of the angioedema-specific variant (c.988A>G, p.K330E) in this gene - 'it goes slightly against our usual rule of needing another source to corroborate that it is the variant itself, but the evidence is reasonably compelling and this is harder if there happens to be a narrow pathogenic variant spectrum e.g. gain of function missense. In view of the reduced penetrance, and this slight doubt, I would prefer to ask the opinion of the evaluation working group'

Therefore rating Amber with the recommendation of expert review at the next GMS panel update (tagged)

Note: this phenotype is also now listed in OMIM (MIM# 619360)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.450 PLG Arina Puzriakova Publications for gene: PLG were set to 28795768; 29548426; 29987869; 31131012; 32066472; 32065705; 32181895
Primary immunodeficiency or monogenic inflammatory bowel disease v2.449 PLG Arina Puzriakova edited their review of gene: PLG: Changed rating: AMBER; Changed publications to: 28795768, 29548426, 29952006, 30809376, 31131012, 32066472, 32065705, 32181895, 33799813
Primary immunodeficiency or monogenic inflammatory bowel disease v2.449 PLG Arina Puzriakova changed review comment from: Bork et al. 2018 (PMID: 28795768) found a recurrent variant (c.988A>G, p.K330E) in 13 German families with hereditary angioedema. Haplotype analysis indicated that this is a likely founder variant. However, the variant is associated with incomplete penetrance as there are several asymptomatic carriers within the families and the variant can be found at low freq in the European population in gnomAD - but has been classified as 'Pathogenic'. There is no evidence of other relevant variants but this seems to be an accepted causal variant in the literature and several subsequent publications have identified additional cases (PMIDs: 29548426; 31131012; 32066472; 32065705; 32181895). There is some data that suggests the variant might affect plasminogen glycosylation (PMIDs: 29548426; 32181895), however multiple patients have also been identified with normal plasminogen activity.; to: Bork et al. 2018 (PMID: 28795768) found a recurrent variant (c.988A>G, p.K330E) in 13 German families with hereditary angioedema. However, the variant is associated with incomplete penetrance as there are several asymptomatic carriers within the families and the variant can be found at low freq in the European population in gnomAD - but has been classified as 'Pathogenic'.

There is no evidence of other relevant variants but this seems to be an accepted causal variant in the literature and several subsequent publications have identified additional cases (PMIDs: 29548426; 29952006; 30809376; 31131012; 32066472; 32065705; 32181895; 33799813). Most cases are of European ancestry and haplotype analysis performed by the original study (Bork et al. 2018) indicated a likely founder effect. However, 2 families in Japan have since been identified indicating the variant may be found in various ethnic populations (PMID: 29987869)

There is some data that suggests the variant might affect plasminogen glycosylation (PMIDs: 29548426; 32181895), however multiple patients have also been identified with normal plasminogen activity.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.449 PLG Arina Puzriakova Publications for gene: PLG were set to PMID: 28795768
Primary immunodeficiency or monogenic inflammatory bowel disease v2.448 PLG Arina Puzriakova Classified gene: PLG as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.448 PLG Arina Puzriakova Added comment: Comment on list classification: Discussed with Helen Brittain (Genomics England Clinical Team) regarding the founder effect and reduced penetrance associated with the angioedema-specific variant (c.988A>G, p.K330E) in this gene - 'it goes slightly against our usual rule of needing another source to corroborate that it is the variant itself, but the evidence is reasonably compelling and this is harder if there happens to be a narrow pathogenic variant spectrum e.g. gain of function missense. In view of the reduced penetrance, and this slight doubt, I would prefer to ask the opinion of the evaluation working group'

Therefore rating Amber with the recommendation of expert review at the next GMS panel update (tagged)

Note: this phenotype is also now listed in OMIM (MIM# 619360)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.448 PLG Arina Puzriakova Gene: plg has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.447 PLG Arina Puzriakova changed review comment from: Penetrance for gene PLG was set from 'unknown' to 'incomplete'; to: Penetrance for PLG on this panel was set from 'unknown' to 'incomplete'
Primary immunodeficiency or monogenic inflammatory bowel disease v2.447 PLG Arina Puzriakova commented on gene: PLG: Penetrance for gene PLG was set from 'unknown' to 'incomplete'
Primary immunodeficiency or monogenic inflammatory bowel disease v2.447 PLG Arina Puzriakova Penetrance for gene PLG was set from to unknown
Primary immunodeficiency or monogenic inflammatory bowel disease v2.446 PLG Arina Puzriakova Tag founder-effect tag was added to gene: PLG.
Tag Q3_21_expert_review tag was added to gene: PLG.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.446 PLG Arina Puzriakova reviewed gene: PLG: Rating: ; Mode of pathogenicity: None; Publications: 28795768, 29548426, 31131012, 32066472, 32065705, 32181895; Phenotypes: Angioedema, hereditary, 4, OMIM:619360; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v2.446 PLG Arina Puzriakova Phenotypes for gene: PLG were changed from Angioedema, hereditary, 4, OMIM:619360 to Angioedema, hereditary, 4, OMIM:619360
Primary immunodeficiency or monogenic inflammatory bowel disease v2.445 PLG Arina Puzriakova Phenotypes for gene: PLG were changed from Non-C1 Hereditary Angioedema to Angioedema, hereditary, 4, OMIM:619360
Primary immunodeficiency or monogenic inflammatory bowel disease v2.444 IPO8 Ivone Leong Tag Q3_21_expert_review tag was added to gene: IPO8.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.444 IPO8 Ivone Leong Classified gene: IPO8 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.444 IPO8 Ivone Leong Added comment: Comment on list classification: New gene added by Boaz Palterer (University of Florence). This gene is associated with a phenotype in Gene2Phenotype but not OMIM. As immune dysregulation is not seen in all affected individuals (PMID:34010604) and PMID:34010605 did not investigate the immune status of their cohort this gene has been given an Amber rating until further cases are available.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.444 IPO8 Ivone Leong Gene: ipo8 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.443 IPO8 Ivone Leong Tag watchlist tag was added to gene: IPO8.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.443 ATM Arina Puzriakova Phenotypes for gene: ATM were changed from Ataxia-telangiectasia, 208900; Ataxia telangiectasia (ATM); immunodeficiency; Ataxia, telangiectasia, pulmonary infections, lymphoreticular and other malignancies, increased alpha fetoprotein, increased radiosensitivity, chromosomal instability and chromosomal translocations; Combined immunodeficiencies with associated or syndromic features to Ataxia-telangiectasia, OMIM:208900; Combined immunodeficiencies with associated or syndromic features; Ataxia, telangiectasia, pulmonary infections, lymphoreticular and other malignancies, increased alpha fetoprotein, increased radiosensitivity, chromosomal instability and chromosomal translocations
Primary immunodeficiency or monogenic inflammatory bowel disease v2.442 CD28 Arina Puzriakova Classified gene: CD28 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.442 CD28 Arina Puzriakova Added comment: Comment on list classification: New gene added by Boaz Palterer. Rating Red as only a single family has been reported to date (PMID: 34214472). Some supportive functional data, but additional cases required prior to promoting this gene.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.442 CD28 Arina Puzriakova Gene: cd28 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.441 CXCR2 Zornitza Stark gene: CXCR2 was added
gene: CXCR2 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: CXCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CXCR2 were set to 24777453
Phenotypes for gene: CXCR2 were set to WHIM syndrome 2 619407
Review for gene: CXCR2 was set to RED
Added comment: 2 sisters with neutropaenia, myelokathexis, and recurrent bacterial infections and homozygous frameshift variant in this gene.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.441 PDCD1 Arina Puzriakova Classified gene: PDCD1 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.441 PDCD1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Boaz Palterer. Rating Red as only a single patient reported to date with relevant phenotype (PMID: 34183838)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.441 PDCD1 Arina Puzriakova Gene: pdcd1 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.440 PDCD1 Boaz Palterer gene: PDCD1 was added
gene: PDCD1 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: PDCD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDCD1 were set to 34183838
Phenotypes for gene: PDCD1 were set to Autoimmunity; splenomegaly; pneumonitis; tubercolosis
Penetrance for gene: PDCD1 were set to unknown
Added comment: Ogishi et al. described a patient with a homozygous frameshift mutation in the PDCD1 encoding the PD-1 protein. The patient presented with polyautoimmunity and tubercolosis, similarly to mice models of PD-1 deficiency and to patients treated with anti-PD-1 cancer immunotherapy.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.440 CD28 Boaz Palterer gene: CD28 was added
gene: CD28 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: CD28 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD28 were set to 34214472
Phenotypes for gene: CD28 were set to cutaneous horn; immunodeficiency; papillomavirus infection; tree man syndrome; warts
Penetrance for gene: CD28 were set to unknown
Review for gene: CD28 was set to RED
Added comment: Beziat et al. describe 3 patients from a large kindred with homozygous mutations in CD28 causing loss of protein expression. The patients have severe HPV warts or tree man syndrome.
Extensive ex vivo functional data and mouse model are provided.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.440 ACD Arina Puzriakova Phenotypes for gene: ACD were changed from Dyskeratosis congenita 6, 616553; Dyskeratosis congenita 7, 616553; Hoyeraal-Hreidarsson syndrome to Dyskeratosis congenita, autosomal dominant 6, OMIM:616553; Dyskeratosis congenita, autosomal recessive 7, OMIM:616553
Primary immunodeficiency or monogenic inflammatory bowel disease v2.439 OAS1 Arina Puzriakova Phenotypes for gene: OAS1 were changed from Autoinflammatory Disorders; Pulmonary alveolar proteinosis, skin rash; OAS1 GOF to Autoinflammatory Disorders; Pulmonary alveolar proteinosis; Recurrent fever; Dermatitis; Inflammatory bowel disease; Hypogammaglobulinemia
Primary immunodeficiency or monogenic inflammatory bowel disease v2.438 OAS1 Arina Puzriakova Mode of pathogenicity for gene: OAS1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Primary immunodeficiency or monogenic inflammatory bowel disease v2.437 OAS1 Arina Puzriakova edited their review of gene: OAS1: Added comment: Additional publication identified by Boaz Palterer (PMID:34145065) supports the inclusion of this gene as Green on this panel. There are now at least 4 different gain-of-function heterozygous variants in the OAS1 gene identified in 8 unrelated families with 10 affected individuals (P5 in PMID:34145065 and C-II-1 in PMID:29455859 refer to the same individual).; Changed rating: GREEN; Changed publications to: 34145065, 29455859; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v2.437 OAS1 Arina Puzriakova Publications for gene: OAS1 were set to 32086639; 29455859; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.436 IKZF3 Arina Puzriakova Publications for gene: IKZF3 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v2.435 IKZF3 Arina Puzriakova Classified gene: IKZF3 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.435 IKZF3 Arina Puzriakova Added comment: Comment on list classification: New gene added by Boaz Palterer (University of Florence). Rating Red as only a single family with B cell deficiency has been reported at this time. Includes supportive mouse model showing B cell developmental defects and T cell abnormalities (PMID:34155405).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.435 IKZF3 Arina Puzriakova Gene: ikzf3 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.434 OAS1 Boaz Palterer reviewed gene: OAS1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 34145065; Phenotypes: recurrent fever, dermatitis, inflammatory bowel disease, pulmonary alveolar proteinosis, hypogammaglobulinemia.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary immunodeficiency or monogenic inflammatory bowel disease v2.434 IKZF3 Boaz Palterer gene: IKZF3 was added
gene: IKZF3 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: IKZF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: IKZF3 were set to B cell deficiency; EBV inefctions suspectibility; hypogammaglobulinemia
Penetrance for gene: IKZF3 were set to unknown
Review for gene: IKZF3 was set to RED
Added comment: Motoi Yamashita et al. ( https://www.nature.com/articles/s41590-021-00951-z ) identified 3 patients from a kindred harboring the missense G159R variant in AIOLOS, encoded by the IKZF3 gene. They demonstrated that the variant acts as a dominant-negative mutation through heterodimeric interference by disrupting IKAROS (IKZF1) function.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.434 IPO8 Ivone Leong changed review comment from: Zornitza Stark also left a Green review of this gene on the Thoracic aortic aneurysm and dissection (Version 1.8):

"12 individuals from 9 unrelated families in a cohort submitted for publication with bi-allelic IPO8 variants. Variants were nonsense/splice and some missense. Patients displayed a phenotype reminiscent of Loeys Dietz syndrome that variably combined cardiovascular, neurologic, skeletal and immunologic abnormalities along with dysmorphic features. Western blot on patient cells (4 individuals) showed reduced IPO8 expression. Disruption of IPO8 homologue in zebrafish associated with cardiac anomalies. Transcriptome analysis in zebrafish showed that IPO8-deficient zebrafish had abnormal TGFbeta pathway expression. Sources: Literature
Zornitza Stark (Australian Genomics), 11 Jun 2021"; to: Zornitza Stark also left a Green review of this gene on the Thoracic aortic aneurysm and dissection (Version 1.8) panel:

"12 individuals from 9 unrelated families in a cohort submitted for publication with bi-allelic IPO8 variants. Variants were nonsense/splice and some missense. Patients displayed a phenotype reminiscent of Loeys Dietz syndrome that variably combined cardiovascular, neurologic, skeletal and immunologic abnormalities along with dysmorphic features. Western blot on patient cells (4 individuals) showed reduced IPO8 expression. Disruption of IPO8 homologue in zebrafish associated with cardiac anomalies. Transcriptome analysis in zebrafish showed that IPO8-deficient zebrafish had abnormal TGFbeta pathway expression. Sources: Literature
Zornitza Stark (Australian Genomics), 11 Jun 2021"
Primary immunodeficiency or monogenic inflammatory bowel disease v2.434 IPO8 Ivone Leong commented on gene: IPO8: Zornitza Stark also left a Green review of this gene on the Thoracic aortic aneurysm and dissection (Version 1.8):

"12 individuals from 9 unrelated families in a cohort submitted for publication with bi-allelic IPO8 variants. Variants were nonsense/splice and some missense. Patients displayed a phenotype reminiscent of Loeys Dietz syndrome that variably combined cardiovascular, neurologic, skeletal and immunologic abnormalities along with dysmorphic features. Western blot on patient cells (4 individuals) showed reduced IPO8 expression. Disruption of IPO8 homologue in zebrafish associated with cardiac anomalies. Transcriptome analysis in zebrafish showed that IPO8-deficient zebrafish had abnormal TGFbeta pathway expression. Sources: Literature
Zornitza Stark (Australian Genomics), 11 Jun 2021"
Primary immunodeficiency or monogenic inflammatory bowel disease v2.434 IPO8 Ivone Leong Added comment: Comment on publications: PMID: 34010604. 12 individuals from 9 families. 11/12 dilatation of the ascending aorta, 6/12 other abnormalities in great vessels (including ascending aortic aneurysm and carotid artery tortuosity), 6/10 heart malformations, 9/12 dysmorphic features (including proptossi, micrognathia, hypertelorism, frontal bossing and abnormal palate), 12/12 skeletal abnormalities (including hyperlaxity, recurrent joint dislocations, scoliosis, pectus and arachnodactyly), 8/12 skin hyperextensibility, 11/12 umbilical hernia, 7/12 developmental delay or intellectual disability (did not mention severity), 2/12 retinal detachment, 3/12 bilateral cataract (one patient had it at age of 45), 3/3 hyperIgE and IgG, 3/4 hypoIgA, 4/5 hypereosinophilia, 5/12 intestinal inflammation and 6/12 allergic symptoms. Patients were aged between 1 year - 62 years old).

PMID: 34010605. 7 individuals from 6 families. 7/7 dysmorphic features (including frontal bossing, hypertelorism, retrognathia and palate abnormalities), 7/7 skeletal findings (including arachnodactyly, joint hypermobility, scoliosis, pectus excavatum and pes planum), 7/7 developmental delay, 2/7 ID (1 mild ID and no severity for the other patient), 5/7 atrial septal defect, 4/7 ventricular septal defect, 6/7 cardiovascular abnormalities with aortic root and/orascending aortic aneurysm, 2/7 marked arterial tortuosity, 5/7 umbilical hernia, 2/7 bruise easily. Authors noted that despite patients having severe aneurysm phenotype none experienced arterial or aortic dissection and concluded that it may be because of the patients' young age (1 year - 19 years old). The study did not look at the immunological profile of the patients. The study also describes a knockout mouse model which recapitulates the human phenotype.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.434 IPO8 Ivone Leong Publications for gene: IPO8 were set to 34010604; 34010605
Primary immunodeficiency or monogenic inflammatory bowel disease v2.433 IPO8 Ivone Leong Publications for gene: IPO8 were set to 34010604
Primary immunodeficiency or monogenic inflammatory bowel disease v2.432 MYOF Arina Puzriakova Penetrance for gene MYOF was set from to None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.431 MYOF Arina Puzriakova Classified gene: MYOF as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.431 MYOF Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). Rating Red as only a single family has been reported at this time. Likely incomplete penetrance as one unaffected family member also carried the variant (PMID:32542751)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.431 MYOF Arina Puzriakova Gene: myof has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.430 MYOF Arina Puzriakova Phenotypes for gene: MYOF were changed from Hereditary angioedema-7 (HAE7), MIM#619366 to ?Angioedema, hereditary, 7, OMIM:619366
Primary immunodeficiency or monogenic inflammatory bowel disease v2.429 HS3ST6 Arina Puzriakova Phenotypes for gene: HS3ST6 were changed from Hereditary angioedema-8 (HAE8), MIM#619367 to ?Angioedema, hereditary, 8, OMIM:619367
Primary immunodeficiency or monogenic inflammatory bowel disease v2.428 HS3ST6 Arina Puzriakova Classified gene: HS3ST6 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.428 HS3ST6 Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). Rating Red as only a single family has been reported at this time (PMID:33508266)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.428 HS3ST6 Arina Puzriakova Gene: hs3st6 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.427 SASH3 Zornitza Stark reviewed gene: SASH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33876203; Phenotypes: Combined immunodeficiency, immune dysregulation; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Primary immunodeficiency or monogenic inflammatory bowel disease v2.427 HS3ST6 Zornitza Stark gene: HS3ST6 was added
gene: HS3ST6 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: HS3ST6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HS3ST6 were set to 33508266
Phenotypes for gene: HS3ST6 were set to Hereditary angioedema-8 (HAE8), MIM#619367
Review for gene: HS3ST6 was set to RED
Added comment: Three affected individuals from a single family reported, missense variant, no functional data.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.427 MYOF Zornitza Stark gene: MYOF was added
gene: MYOF was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: MYOF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYOF were set to 32542751
Phenotypes for gene: MYOF were set to Hereditary angioedema-7 (HAE7), MIM#619366
Review for gene: MYOF was set to RED
Added comment: Three individuals from one family reported, onset of recurrent episodic swelling of the face, lips, and oral mucosa was in the second decade. Variant was also present in another unaffected family member. Some functional data.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.427 PLG Zornitza Stark reviewed gene: PLG: Rating: GREEN; Mode of pathogenicity: None; Publications: 28795768, 29548426, 29987869; Phenotypes: Hereditary angioedema-4 (HAE4), MIM#619360; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.427 CSF2 Arina Puzriakova Classified gene: CSF2 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.427 CSF2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Boaz Palterer. Relevant phenotype but currently only a single family reported (PMID:33349924). Rating Red, awaiting further cases/clinical evidence to support pathogenicity.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.427 CSF2 Arina Puzriakova Gene: csf2 has been classified as Red List (Low 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 v2.425 STXBP3 Arina Puzriakova Classified gene: STXBP3 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.425 STXBP3 Arina Puzriakova Added comment: Comment on list classification: Sufficient number of cases presenting a relevant phenotype with some functional data. However, given that several families carried potentially contributory variants in other genes, going to maintain an Amber rating at this time in anticipation of further cases/clinical evidence to validate the pathogenicity of this gene.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.425 STXBP3 Arina Puzriakova Gene: stxbp3 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.424 STXBP3 Arina Puzriakova changed review comment from: Ouahed et al. 2021 (PMID: 33891011) report 5 unrelated families with 10 patients who presented with a similar phenotype including medically refractory infantile-onset IBD (10/10), severe bilateral sensorineural hearing loss (8/10), and, in the majority, recurrent infections (6/10). Heterozygous variants in STXBP3 were identified in 3 families (2 de novo, 1 paternally transmitted); while 5 sibs from 2 unrelated families harboured different compound het variants. Variants interfered with either intron splicing or protein stability and all were shown to reduce STXBP3 protein expression. Knock-down of STXBP3 in CaCo2 cells resulted in defects in cell polarity.

Additional variants not thought to be independently deleterious by the authors, but in pathways of interest or in known VEOIBD genes, were identified in 4/5 families.

* Note the previous review submitted by Kelsey Jones (GOSH) references an abstract briefly reporting on 4/5 of the families from PMID:33891011; to: Ouahed et al. 2021 (PMID: 33891011) report 5 unrelated families with 10 patients who presented with a similar phenotype including medically refractory infantile-onset IBD (10/10), severe bilateral sensorineural hearing loss (8/10), and, in the majority, recurrent infections (6/10). Heterozygous variants in STXBP3 were identified in 3 families (2 de novo, 1 paternally transmitted); while 5 sibs from 2 unrelated families harboured different compound het variants. Variants interfered with either intron splicing or protein stability and all were shown to reduce STXBP3 protein expression. Knock-down of STXBP3 in CaCo2 cells resulted in defects in cell polarity.

Additional variants not thought to be independently deleterious by the authors, but in pathways of interest or in known VEOIBD genes, were identified in 4/5 families.

* Note the previous review submitted by Kelsey Jones (GOSH) references an abstract briefly reporting on 4 of the families from PMID:33891011
Primary immunodeficiency or monogenic inflammatory bowel disease v2.424 STXBP3 Arina Puzriakova reviewed gene: STXBP3: Rating: AMBER; Mode of pathogenicity: None; Publications: 33891011; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.424 STXBP3 Arina Puzriakova Publications for gene: STXBP3 were set to 33346580; https://doi.org/10.1053/j.gastro.2017.11.120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.423 PLG Arina Puzriakova Tag Q2_21_NHS_review tag was added to gene: PLG.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.423 CSF2 Boaz Palterer gene: CSF2 was added
gene: CSF2 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: CSF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CSF2 were set to 33349924
Phenotypes for gene: CSF2 were set to Behcet-like disease; Pathergy
Penetrance for gene: CSF2 were set to unknown
Mode of pathogenicity for gene: CSF2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: CSF2 was set to RED
Added comment: Rösler et al. described a kindred with two patients affected by a Behcet-like disease characterized by marked pathergy and absent inflammation. They identified a heterozygous variant in the GM-CSF gene CSF2 (c.130A>C, p.N44H) resulting in disruption of an N-glycosylation site. They show that de-glycosylated GM-CSF enhances STAT-5 phosphorylation, and therefore the variant acts as a gain-of-function.
Sources: Literature
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 v2.423 SPI1 Arina Puzriakova Classified gene: SPI1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.423 SPI1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Boaz Palterer. Sufficient number of unrelated cases (6) presenting a relevant phenotype, supported by some functional data (PMID: 33951726). However, only able to access the publication abstract at this time - Rating Amber with a watchlist tag until the full text becomes available (on 2022-01-05)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.423 SPI1 Arina Puzriakova Gene: spi1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.422 SPI1 Arina Puzriakova Phenotypes for gene: SPI1 were changed from agammaglobulinemia to Agammaglobulinemia
Primary immunodeficiency or monogenic inflammatory bowel disease v2.421 SPI1 Arina Puzriakova Tag watchlist tag was added to gene: SPI1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.421 IPO8 Boaz Palterer gene: IPO8 was added
gene: IPO8 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: IPO8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IPO8 were set to 34010604
Phenotypes for gene: IPO8 were set to cardiovascular anomalies; joint hyperlaxity; dysmorphic features; developmental delay; immune dysregulation; allergy
Penetrance for gene: IPO8 were set to unknown
Review for gene: IPO8 was set to GREEN
Added comment: Ziegler et al. reported 12 individuals from 9 unrelated kindreds with bi-allelic loss-of-function variants in IPO8 presenting with a syndromic association characterized by cardio-vascular anomalies, joint hyperlaxity, and various degree of dysmorphic features and developmental delay as well as immune dysregulation. IPO8 is involved in the TGFbeta/SMAD signaling, which is a known pathway in Loeys-Dietz syndrome. Functional data in a zebrafish model.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.421 ZNFX1 Zornitza Stark reviewed gene: ZNFX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33872655, 33876776; Phenotypes: Multisystem inflammation, susceptibility to viral infections; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.421 STXBP3 Zornitza Stark reviewed gene: STXBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33891011; Phenotypes: Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss, Immune Dysregulation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v2.421 SASH3 Arina Puzriakova Tag Q2_21_rating tag was added to gene: SASH3.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.421 SASH3 Arina Puzriakova Classified gene: SASH3 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.421 SASH3 Arina Puzriakova Added comment: Comment on list classification: New gene added by Boaz Palterer. There is sufficient evidence to promote this gene to Green at the next GMS panel update - at least 4 unrelated individuals presenting combined immunodeficiency in association with variants in this gene. Supported by functional data and animal model.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.421 SASH3 Arina Puzriakova Gene: sash3 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.420 SASH3 Arina Puzriakova Publications for gene: SASH3 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v2.419 SPI1 Boaz Palterer gene: SPI1 was added
gene: SPI1 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: SPI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPI1 were set to 33951726
Phenotypes for gene: SPI1 were set to agammaglobulinemia
Penetrance for gene: SPI1 were set to unknown
Review for gene: SPI1 was set to GREEN
Added comment: Carole le Coz et al. described 6 unrelated patients with agammaglobulinemia harboring a heterozygous mutation (four de novo, two unphased) of SPI1, the gene encoding PU.1.
The phenotype was functionally replicated by transfection of mutant PU.1
(https://rupress.org/jem/article-abstract/218/7/e20201750/212070/Constrained-chromatin-accessibility-in-PU-1?redirectedFrom=fulltext)
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.419 IL6ST Eleanor Williams reviewed gene: IL6ST: Rating: ; Mode of pathogenicity: None; Publications: 33517393; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.419 PLG Matthew Buckland gene: PLG was added
gene: PLG was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: PLG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLG were set to PMID: 28795768
Phenotypes for gene: PLG were set to Non-C1 Hereditary Angioedema
Penetrance for gene: PLG were set to unknown
Review for gene: PLG was set to GREEN
Added comment: Bork et al. identified the exon9 mutation in PLG in four index families with normal-C1 hereditary angioedema and a further 9 families studied, with shared clinical features.
Sufficient information to ascribe causality.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.419 MPEG1 Arina Puzriakova Phenotypes for gene: MPEG1 were changed from Immunodeficiency 77, MIM# 619223 to Immunodeficiency 77, OMIM:619223
Primary immunodeficiency or monogenic inflammatory bowel disease v2.418 MPEG1 Arina Puzriakova Classified gene: MPEG1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.418 MPEG1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Sufficient number of unrelated cases (5 - PMIDs: 33224153; 28422754) with immunopathology and distinct biallelic variants in this gene to rate as Green at the next GMS panel update. Supported by functional evidence and animal model.

MPEG1 is also associated with a relevant phenotype in OMIM (MIM# 619223)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.418 MPEG1 Arina Puzriakova Gene: mpeg1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.417 MPEG1 Arina Puzriakova Tag Q2_21_rating tag was added to gene: MPEG1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.417 IL37 Arina Puzriakova Classified gene: IL37 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.417 IL37 Arina Puzriakova Added comment: Comment on list classification: Rating Red awaiting further evidence, as only a single case reported to date (PMID: 33674380)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.417 IL37 Arina Puzriakova Gene: il37 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.416 ZNFX1 Arina Puzriakova Classified gene: ZNFX1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.416 ZNFX1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Boaz Palterer. Sufficient number of unrelated cases (10 - PMIDs: 33876776; 33872655) with immunopathology and biallelic variants in this gene to rate as Green at the next GMS panel update.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.416 ZNFX1 Arina Puzriakova Gene: znfx1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.415 ZNFX1 Arina Puzriakova Publications for gene: ZNFX1 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v2.414 ZNFX1 Arina Puzriakova Tag Q2_21_rating tag was added to gene: ZNFX1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.414 ZNFX1 Arina Puzriakova reviewed gene: ZNFX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33876776, 33872655; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.414 SYK Arina Puzriakova Tag Q2_21_rating tag was added to gene: SYK.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.414 SYK Arina Puzriakova Classified gene: SYK as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.414 SYK Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - PMID:33782605 report distinct monoallelic GoF variants in 5 families (6 individuals) with immune dysregulation and inflammation. Expression of one of these variants in a mouse model replicated aspects of the human immunopathology.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.414 SYK Arina Puzriakova Gene: syk has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.413 SASH3 Boaz Palterer gene: SASH3 was added
gene: SASH3 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: SASH3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SASH3 were set to Combined immunodeficiency; lymphopenia; neutropenia; immunodysregulation; autoimmune cytopenias
Penetrance for gene: SASH3 were set to unknown
Review for gene: SASH3 was set to GREEN
Added comment: Delmonte et al. described three novel SASH3 deleterious variants in four unrelated male patients with a history of combined immunodeficiency and immune dysregulation manifesting as recurrent sinopulmonary, cutaneous and mucosal infections, and refractory autoimmune cytopenias.
Functional data: Lentivirus-mediated transfer of SASH3 cDNA in KO Jurkat cells and patient's cell lines restored protein expression and cell proliferation. The KO mouse phenotype is compatible.
https://ashpublications.org/blood/article-abstract/doi/10.1182/blood.2020008629/475781/SASH3-variants-cause-a-novel-form-of-X-linked?redirectedFrom=fulltext
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.413 ZNFX1 Boaz Palterer edited their review of gene: ZNFX1: Added comment: Multisystem Inflammation and Susceptibility to Viral infections in Human ZNFX1 Deficiency
15 patients from 8 families with an autosomal recessive immunodeficiency characterized by severe infections by both RNA and DNA viruses and virally triggered inflammatory episodes with hemophagocytic-lymphohistiocytosis-like disease, early-onset seizures, as well as renal and lung disease.
https://www.jacionline.org/article/S0091-6749(21)00613-8/fulltext; Changed rating: GREEN; Changed phenotypes: Multisystem inflammatory disoder, viral infections, HLH
Primary immunodeficiency or monogenic inflammatory bowel disease v2.413 SYK Zornitza Stark reviewed gene: SYK: Rating: GREEN; Mode of pathogenicity: None; Publications: 33782605; Phenotypes: Immune dysregulation and systemic inflammation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v2.413 IL37 Zornitza Stark gene: IL37 was added
gene: IL37 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: IL37 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL37 were set to 33674380
Phenotypes for gene: IL37 were set to Infantile inflammatory bowel disease
Review for gene: IL37 was set to RED
Added comment: Single family reported with homozygous truncating variant this gene and infantile-onset of IBD, some functional data.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.413 MPEG1 Zornitza Stark gene: MPEG1 was added
gene: MPEG1 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: MPEG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MPEG1 were set to 33224153; 33692780; 28422754
Phenotypes for gene: MPEG1 were set to Immunodeficiency 77, MIM# 619223
Review for gene: MPEG1 was set to GREEN
gene: MPEG1 was marked as current diagnostic
Added comment: Immunodeficiency-77 (IMD77) is an immunologic disorder characterized by recurrent and persistent polymicrobial infections with multiple unusual organisms. Skin and pulmonary infections are the most common, consistent with increased susceptibility to epithelial cell infections. The age at onset is highly variable: some patients have recurrent infections from childhood, whereas others present in late adulthood. The limited number of reported patients are all female, suggesting incomplete penetrance or a possible sex-influenced trait. Patient cells, mainly macrophages, show impaired killing of intracellular bacteria and organisms, including nontubercular mycobacteria, although there is also impaired killing of other organisms, such as Pseudomonas, Candida, and Aspergillus.

Four individuals reported, functional data, including animal model.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.413 PRIM1 Arina Puzriakova Classified gene: PRIM1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.413 PRIM1 Arina Puzriakova Added comment: Comment on list classification: PRIM1 was added to this panel following discussion with Helen Brittain (Genomics England Clinical Team). It was agreed that there is sufficient evidence to rate this gene Green at the next review
Primary immunodeficiency or monogenic inflammatory bowel disease v2.413 PRIM1 Arina Puzriakova Gene: prim1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.412 PRIM1 Arina Puzriakova gene: PRIM1 was added
gene: PRIM1 was added to Primary immunodeficiency. Sources: Literature
Q2_21_rating tags were added to gene: PRIM1.
Mode of inheritance for gene: PRIM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRIM1 were set to 33060134
Phenotypes for gene: PRIM1 were set to Microcephalic primordial dwarfism, MONDO:0017950
Review for gene: PRIM1 was set to GREEN
Added comment: PRIM1 is currently not associated with any phenotype in OMIM (last edited in 2004) or Gene2Phenotype.

- PMID: 33060134 (2020) - From a cohort of 220 families with microcephalic dwarfism spectrum disorders (OFC ≤−4 SD; height ≤−2 SD), three families (4 individuals) were identified with the same homozygous intronic variant (c.638+36C>G) in PRIM1. This variant was present in gnomAD in 2 individuals across all populations, but only in a heterozygous state. Haplotype analysis indicated that all three families share a distant common ancestor - i.e. confirmed founder variant.
Authors subsequently identified a single individual with compound heterozygous PRIM1 variants (c.103+1G>T, c.901T>C) from the DDD study, who also presented microcephaly and short stature (OFC ≤−3 SD; height ≤−3 SD).

Clinical overlap was evident in all 5 individuals, presenting extreme pre- and postnatal growth restriction, severe microcephaly (OFC −6.0 ± 1.5 SD) with simplified gyri appearance, hypothyroidism, hypo/agammaglobulinemia, and lymphopenia accompanied by intermittent anaemia/thrombocytopenia. All had chronic respiratory symptoms, and four died in early childhood from respiratory or GI infections.

Functional studies demonstrated reduced PRIM1 protein levels, replication fork defects and prolonged S-phase duration in PRIM1-deficient cells. The resulting delay to the cell cycle and inability to sustain sufficient cell proliferation provides a likely mechanism for the presenting phenotype.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.411 ZNFX1 Boaz Palterer gene: ZNFX1 was added
gene: ZNFX1 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: ZNFX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZNFX1 were set to mendelian susceptibility to mycobacterial disease; MSMD; monocytosis.
Penetrance for gene: ZNFX1 were set to unknown
Review for gene: ZNFX1 was set to RED
Added comment: Le Voyer et al. described two patients from two unrelated kindreds with homozygous LOF variants in the ZNFX1 gene associated with mendelian susceptibility to mycobacterial disease (MSMD) and monocytosis. ( https://www.pnas.org/content/118/15/e2102804118 )
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.411 SYK Boaz Palterer gene: SYK was added
gene: SYK was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: SYK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SYK were set to 33782605
Phenotypes for gene: SYK were set to immunodeficiency; hypogammaglobulinemia; multi-organ inflammatory disease
Penetrance for gene: SYK were set to unknown
Mode of pathogenicity for gene: SYK was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: SYK was set to AMBER
Added comment: Wang et al. identified six patients from unrelated kindreds with monoallelic SYK variants causing immunodeficiency and a multiorgan inflammatory disease. The variants were proven to be functionally gain-of-function. Functional GOF was confirmed in knock-in mouse experiments.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.411 ARPC1B Arina Puzriakova Publications for gene: ARPC1B were set to 28368018; 29127144; 27965109
Primary immunodeficiency or monogenic inflammatory bowel disease v2.410 ARPC1B Arina Puzriakova Phenotypes for gene: ARPC1B were changed from Thrombocytopenia & Immune Deficiency; Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718; inflammatory predisposition; Immunodeficiency with thrombocytopenia; Mild thrombocytopenia with normal sized platelets, recurrent invasive infections, colitis, vasculitis, autoantibodies (ANA, ANCA), eosinophilia, defective Arp2/3, filament branching; Combined immunodeficiencies with associated or syndromic features to Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, OMIM:617718; Combined immune deficiency with or without thrombocytopenia; Inflammatory predisposition
Primary immunodeficiency or monogenic inflammatory bowel disease v2.409 MR1 Arina Puzriakova Classified gene: MR1 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.409 MR1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Boaz Palterer. Single patient described in PMID: 32709702 who presented immunodeficiency and a homozygous MR1 variant (c.92G>A, p.Arg31His) supported by some functional data. Rating Red, awaiting further evidence.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.409 MR1 Arina Puzriakova Gene: mr1 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.408 RAD50 Arina Puzriakova Phenotypes for gene: RAD50 were changed from bone marrow failure; immunodeficiency; developmental defect to Nijmegen breakage syndrome-like disorder, OMIM:613078; Bone marrow failure; Immunodeficiency
Primary immunodeficiency or monogenic inflammatory bowel disease v2.407 RAD50 Arina Puzriakova Classified gene: RAD50 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.407 RAD50 Arina Puzriakova Added comment: Comment on list classification: New gene added by Boaz Palterer. Of the three total patients reported to date with biallelic variants in this gene, only one exhibited bone marrow failure and immunodeficiency (PMID: 33378670). Therefore rating Red on this panel until further cases are reported which indicate that RAD50 variants contribute to immunodeficiency
Primary immunodeficiency or monogenic inflammatory bowel disease v2.407 RAD50 Arina Puzriakova Gene: rad50 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.406 RAD50 Arina Puzriakova reviewed gene: RAD50: Rating: RED; Mode of pathogenicity: None; Publications: 33378670; Phenotypes: Nijmegen breakage syndrome-like disorder, OMIM:613078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.406 POU2AF1 Arina Puzriakova Classified gene: POU2AF1 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.406 POU2AF1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Boaz Palterer. Single patient described in PMID: 33571536 with agammaglobulinemia and a homozygous POU2AF1 variant (c.233delC, p.Thr78Lysfs∗63) supported by functional data. Rating Red, awaiting further evidence.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.406 POU2AF1 Arina Puzriakova Gene: pou2af1 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.405 GIMAP5 Arina Puzriakova Tag treatable tag was added to gene: GIMAP5.
Tag watchlist tag was added to gene: GIMAP5.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.405 GIMAP5 Arina Puzriakova Classified gene: GIMAP5 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.405 GIMAP5 Arina Puzriakova Added comment: Comment on list classification: New gene added by Boaz Palterer. 4 unrelated families with an immunodeficiency disorder and difference biallelic LoF variants in the GIMAP5 gene. Clinical improvement in Gimap5-deficient mice and a human patient was observed following treatment with rapamycin (mTORC1 inhibitor)

Although there are sufficient cases with a relevant phenotype, rating this gene Amber while pending publication of the Park 2021 article, as information can change from the initial bioRxiv upload to peer-reviewed publication. Added 'watchlist' tag and will re-curate when the paper is published.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.405 GIMAP5 Arina Puzriakova Gene: gimap5 has been classified as Amber List (Moderate Evidence).
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 v2.403 ATG4A Arina Puzriakova Classified gene: ATG4A as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.403 ATG4A 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 ATG4A variant (c.268C>A) supported by functional data. Rating Red, awaiting further evidence.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.403 ATG4A Arina Puzriakova Gene: atg4a has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.402 MR1 Boaz Palterer gene: MR1 was added
gene: MR1 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: MR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MR1 were set to 32709702
Phenotypes for gene: MR1 were set to Warts, bacterial infections, MAIT cells deficiency
Penetrance for gene: MR1 were set to unknown
Review for gene: MR1 was set to RED
Added comment: Howson et al. describe a single patient with resistant warts and bacterial infections, with a homozygous MR1 variant (p.R9H) causing a selective MAIT cells deficiency.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.402 ARPC1B Nikolaos Marinakis reviewed gene: ARPC1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 33679784; Phenotypes: combined immunodeficiency, infections, allergy, inflammation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v2.402 RHOG Arina Puzriakova Classified gene: RHOG as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.402 RHOG Arina Puzriakova Added comment: Comment on list classification: Rating Red as only a single case reported at present (PMID: 33513601). Relevant phenotype and some supportive functional data included.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.402 RHOG Arina Puzriakova Gene: rhog 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 v2.401 ATG4A Boaz Palterer gene: ATG4A was added
gene: ATG4A was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: ATG4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATG4A were set to 33310865
Phenotypes for gene: ATG4A were set to Mollaret’s meningitis; recurrent HSV2 meningitis
Penetrance for gene: ATG4A were set to unknown
Review for gene: ATG4A was set to RED
Added comment: Hait et al. described a single patient with a rare heterozygous variant in ATG4 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 ATG4 into patient fibroblasts.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.401 RAD50 Boaz Palterer gene: RAD50 was added
gene: RAD50 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: RAD50 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAD50 were set to 33378670
Phenotypes for gene: RAD50 were set to bone marrow failure; immunodeficiency; developmental defect
Penetrance for gene: RAD50 were set to unknown
Review for gene: RAD50 was set to RED
Added comment: Chansel-Da Cruz et al. identified a single patient with bone marrow failure, immunodeficiency and developmental defect caused by compound heterozygous mutations in RAD50. The first mutations generate a null allele, the second is hypothesized to be hypomorphic because of the loss of a single amino acid residue in the coiled-coil domain of RAD50.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.401 POU2AF1 Boaz Palterer gene: POU2AF1 was added
gene: POU2AF1 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: POU2AF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POU2AF1 were set to 33571536
Phenotypes for gene: POU2AF1 were set to Agammaglobulinemia; Immunodeficiency; Bob1 deficiency
Penetrance for gene: POU2AF1 were set to unknown
Review for gene: POU2AF1 was set to RED
Added comment: Kury et al. described a single patient from consanguineous parents carrying a homozygous frameshift mutation in POU2AF1, encoding for Bob1, presenting with agammaglobulinemia with normal B cells. Functional data showed that Bob1 deficiency ex vivo and in a mouse KO model reduced B-cell responsiveness, impaired plasmablast formation and immunoglobulin secretion.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.401 GIMAP5 Boaz Palterer gene: GIMAP5 was added
gene: GIMAP5 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: GIMAP5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GIMAP5 were set to lymphopenia; autoimmunity; immunodeficiency; liver disease
Penetrance for gene: GIMAP5 were set to unknown
Review for gene: GIMAP5 was set to RED
Added comment: Park et al. (https://www.biorxiv.org/content/10.1101/2021.02.22.432146v1.full.pdf) identified biallelic mutations in GIMAP5 in 10 subjects from 4 kindreds with severe progressive
lymphopenia, autoimmunity, immunodeficiency, and liver disease
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.401 STXBP3 Ivone Leong Classified gene: STXBP3 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.401 STXBP3 Ivone Leong Added comment: Comment on list classification: New gene added by Kelsey Jones (Great Ormond Street Hospital). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. Based on the available evidence this gene has been given an Amber rating.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.401 STXBP3 Ivone Leong Gene: stxbp3 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.400 SLC9A3 Ivone Leong Classified gene: SLC9A3 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.400 SLC9A3 Ivone Leong Added comment: Comment on list classification: New gene added by Kelsey Jones (Great Ormond Street Hospital). This gene is associated with a phenotype in OMIM and not Gene2Phenotype. Based on the expert review and available evidence this gene has been given an Amber rating.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.400 SLC9A3 Ivone Leong Gene: slc9a3 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.399 SLC9A3 Ivone Leong Phenotypes for gene: SLC9A3 were changed from Very Early Onset Inflammatory Bowel Disease; Congenital sodium diarrhoea to Very Early Onset Inflammatory Bowel Disease; Diarrhea 8, secretory sodium, congenital, OMIM:616868
Primary immunodeficiency or monogenic inflammatory bowel disease v2.398 NPC1 Ivone Leong Classified gene: NPC1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.398 NPC1 Ivone Leong Added comment: Comment on list classification: New gene added by Kelsey Jones (Great Ormond Street Hospital). This gene is associated with a phenotype in OMIM and Gene2Phenotype. Based on the expert review and available evidence, this gene is recommended to be Green at the next review.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.398 NPC1 Ivone Leong Gene: npc1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.397 NPC1 Ivone Leong Tag for-review tag was added to gene: NPC1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.397 STXBP3 Ivone Leong Publications for gene: STXBP3 were set to PMID: 33346580
Primary immunodeficiency or monogenic inflammatory bowel disease v2.396 SLC9A3 Ivone Leong Publications for gene: SLC9A3 were set to PMID: 26358773
Primary immunodeficiency or monogenic inflammatory bowel disease v2.395 NPC1 Ivone Leong Publications for gene: NPC1 were set to PMID: 26953272
Primary immunodeficiency or monogenic inflammatory bowel disease v2.394 COL7A1 Ivone Leong Classified gene: COL7A1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.394 COL7A1 Ivone Leong Added comment: Comment on list classification: New gene added by Kelsey Jones (Great Ormond Street Hospital). This gene is associated with a phenotype in OMIM and Gene2Phenotype. This gene has been given an Amber rating.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.394 COL7A1 Ivone Leong Gene: col7a1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.393 COL7A1 Ivone Leong Publications for gene: COL7A1 were set to PMID: 18363753
Primary immunodeficiency or monogenic inflammatory bowel disease v2.392 RHOG Boaz Palterer gene: RHOG was added
gene: RHOG was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: RHOG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RHOG were set to 33513601
Phenotypes for gene: RHOG were set to HLH; hemophagocytic lymphohistiocytosis
Penetrance for gene: RHOG were set to unknown
Review for gene: RHOG was set to RED
Added comment: One patient with HLH and impaired cytotoxic T lymphocyte and natural killer (NK) cell exocytosis functions, bearing biallelic deleterious mutations in the RhoG gene.
Experimental ablation of RHOG in a model cell line and primary CTLs confirmed that RhoG engages in a protein-protein interaction with Munc13-4, an exocytosis protein essential for cytotoxic granules fusion with the plasma membrane.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.392 SLC9A3 Kelsey Jones gene: SLC9A3 was added
gene: SLC9A3 was added to Primary immunodeficiency. Sources: Expert Review
Mode of inheritance for gene: SLC9A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC9A3 were set to PMID: 26358773
Phenotypes for gene: SLC9A3 were set to Very Early Onset Inflammatory Bowel Disease; Congenital sodium diarrhoea
Penetrance for gene: SLC9A3 were set to Incomplete
Review for gene: SLC9A3 was set to AMBER
Added comment: Described as a monogenic cause of VEOIBD (recognised criteria for the R15 panel). 2 patients from unrelated families in a series of 9 cases with SLC9A3-related congenital sodium diarrhoea developed intestinal inflammation/IBD (PMID: 26358773). GWAS have indicated a strong association between SLC9A3 and IBD, and there are supportive mouse models (reviewed in PMID: 26358773).Included on a monogenic IBD gene panel proposed by The Paediatric IBD Porto Group of ESPGHAN (PMID: 33346580).
Sources: Expert Review
Primary immunodeficiency or monogenic inflammatory bowel disease v2.392 STXBP3 Kelsey Jones gene: STXBP3 was added
gene: STXBP3 was added to Primary immunodeficiency. Sources: Expert Review
Mode of inheritance for gene: STXBP3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: STXBP3 were set to PMID: 33346580
Phenotypes for gene: STXBP3 were set to Very Early Onset Inflammatory Bowel Disease; Sensorineural hearing loss
Penetrance for gene: STXBP3 were set to unknown
Review for gene: STXBP3 was set to AMBER
Added comment: Described as a monogenic cause of VEOIBD (recognised criteria for the R15 panel) in a report published in abstract form (DOI: https://doi.org/10.1053/j.gastro.2017.11.120). 8 patients from 4 unrelated families with defects in STXBP3 reportedly associated with VEO-IBD, bilateral sensorineural hearing loss, and impaired cytotoxic T-lymphocyte function (granule release, stimulated CD107a upregulation). Included on a monogenic IBD gene panel proposed by The Paediatric IBD Porto Group of ESPGHAN (PMID: 33346580).
Sources: Expert Review
Primary immunodeficiency or monogenic inflammatory bowel disease v2.392 COL7A1 Kelsey Jones changed review comment from: Important monogenic cause of VEOIBD (recognised criteria for the R15 panel). In a retrospective case series, 9 of 57 (16%) children with recessive DEBP had diarrhoea with macroscopic/microscopic features of colitis (PMID: 18363753). Included on a monogenic IBD gene panel proposed by The Paediatric IBD Porto Group of ESPGHAN (PMID: 33346580). Not a recognised cause of immunodeficiency.
Sources: Expert Review; to: Important monogenic cause of VEOIBD (recognised criteria for the R15 panel). In a retrospective case series, 9 of 57 (16%) children with recessive DEBP had diarrhoea with macroscopic/microscopic features of colitis (PMID: 18363753). There is additionally a recognised association between Epidermolysis Bullosa Acquisita (an autoimmune condition directed against Type VII Collagen (the COL7A1 protein product) (PMID: 23517353). Included on a monogenic IBD gene panel proposed by The Paediatric IBD Porto Group of ESPGHAN (PMID: 33346580). Not a recognised cause of immunodeficiency.
Sources: Expert Review
Primary immunodeficiency or monogenic inflammatory bowel disease v2.392 COL7A1 Kelsey Jones gene: COL7A1 was added
gene: COL7A1 was added to Primary immunodeficiency. Sources: Expert Review
Mode of inheritance for gene: COL7A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COL7A1 were set to PMID: 18363753
Phenotypes for gene: COL7A1 were set to Very Early Onset Inflammatory Bowel Disease; Dystrophic Epidermolysis Bullosa Pruriginosa
Penetrance for gene: COL7A1 were set to Incomplete
Review for gene: COL7A1 was set to AMBER
Added comment: Important monogenic cause of VEOIBD (recognised criteria for the R15 panel). In a retrospective case series, 9 of 57 (16%) children with recessive DEBP had diarrhoea with macroscopic/microscopic features of colitis (PMID: 18363753). Included on a monogenic IBD gene panel proposed by The Paediatric IBD Porto Group of ESPGHAN (PMID: 33346580). Not a recognised cause of immunodeficiency.
Sources: Expert Review
Primary immunodeficiency or monogenic inflammatory bowel disease v2.392 NPC1 Kelsey Jones changed review comment from: Important monogenic cause of VEOIBD (recognised criteria for the R15 panel). 14 patients with defects in NPC1 presenting with severe Crohn's-like intestinal inflammation described in PMID: 26953272. Mechanism suggested to involve defective bacterial handling by macrophages. Estimated 3-7% penetrance of intestinal inflammation in patients with Niemann-Pick type C disease (same reference). Included on a monogenic IBD gene panel proposed by The Paediatric IBD Porto Group of ESPGHAN (PMID: 33346580). Not a recognised cause of immunodeficiency.
Sources: Expert list; to: Important monogenic cause of VEOIBD (recognised criteria for the R15 panel). 14 patients with defects in NPC1 presenting with severe Crohn's-like intestinal inflammation described in PMID: 26953272. Mechanism suggested to involve defective bacterial handling by macrophages. Estimated 3-7% penetrance of intestinal inflammation in patients with Niemann-Pick type C disease (same reference). Included on a monogenic IBD gene panel proposed by The Paediatric IBD Porto Group of ESPGHAN (PMID: 33346580). Not a recognised cause of immunodeficiency.
Sources: Expert list
Primary immunodeficiency or monogenic inflammatory bowel disease v2.392 NPC1 Kelsey Jones gene: NPC1 was added
gene: NPC1 was added to Primary immunodeficiency. Sources: Expert list
Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPC1 were set to PMID: 26953272
Phenotypes for gene: NPC1 were set to Very Early Onset Inflammatory Bowel Disease
Penetrance for gene: NPC1 were set to Incomplete
Review for gene: NPC1 was set to GREEN
Added comment: Important monogenic cause of VEOIBD (recognised criteria for the R15 panel). 14 patients with defects in NPC1 presenting with severe Crohn's-like intestinal inflammation described in PMID: 26953272. Mechanism suggested to involve defective bacterial handling by macrophages. Estimated 3-7% penetrance of intestinal inflammation in patients with Niemann-Pick type C disease (same reference). Included on a monogenic IBD gene panel proposed by The Paediatric IBD Porto Group of ESPGHAN (PMID: 33346580). Not a recognised cause of immunodeficiency.
Sources: Expert list
Primary immunodeficiency or monogenic inflammatory bowel disease v2.392 RNU7-1 Arina Puzriakova changed review comment from: Not associated with any phenotype in OMIM or Gene2Phenotype.

PMID: 33230297 (2020) - 16 individuals from 11 families with biallelic variants in the RNU7-1 gene. Clinical features were typical of Aicardi–Goutières syndrome, including upregulated interferon signalling in patient blood and fibroblasts. 4/12 variants were observed in 2 or more families - several from different ethnic backgrounds. 8 variants are recorded in gnomAD but at a frequency of ≤0.005. Some functional data showing a disturbance of histone RNA processing in patient-derived compared to control fibroblasts.; to: Not associated with any phenotype in OMIM or Gene2Phenotype.

PMID: 33230297 (2020) - 16 individuals from 11 families with biallelic variants in the RNU7-1 gene. Clinical features were typical of Aicardi–Goutières syndrome, including upregulated interferon signalling in patient blood and fibroblasts. 4/12 variants were observed in 2 or more families - several from different ethnic backgrounds. 8 variants are recorded in gnomAD but at a frequency of ≤0.005; no biallelic variants were identified in control populations. Some functional data showing a disturbance of histone RNA processing in patient-derived compared to control fibroblasts.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.392 RNU7-1 Arina Puzriakova Phenotypes for gene: RNU7-1 were changed from Type I interferonopathy; Aicardi-Goutières syndrome to Aicardi-Goutières syndrome-like; Type 1 interferonopathy
Primary immunodeficiency or monogenic inflammatory bowel disease v2.391 RNU7-1 Arina Puzriakova Tag watchlist was removed from gene: RNU7-1.
Tag for-review tag was added to gene: RNU7-1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.391 RNU7-1 Arina Puzriakova changed review comment from: Comment on list classification: New gene added by Boaz Palterer. Currently only one paper (PMID: 33230297) indicating pathogenicity of RNU7-1 variants, which also reports on a healthy individual with biallelic rare variants in this gene. Rating Amber awaiting further publications/clinical evidence to corroborate this gene-disease association (added 'watchlist' tag); to: Comment on list classification: New gene added by Boaz Palterer. Rating Amber with recommendation of review by the GMS team with regards to phenotypic fit for the PID panel - Aicardi-Goutieres syndrome genes are Green on this panel. Sufficient unrelated cases, supported by functional analysis (PMID: 33230297), to promote to Green if appropriate.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.391 RNU7-1 Arina Puzriakova changed review comment from: Not associated with any phenotype in OMIM or Gene2Phenotype.

PMID: 33230297 (2020) - 16 individuals from 11 families with biallelic variants in the RNU7-1 gene. Clinical features were typical of Aicardi–Goutières syndrome which is relevant to this panel. 4/12 variants were observed in 2 or more families. Some functional data showing a disturbance of histone RNA processing in patient-derived compared to control fibroblasts.
However, RNU7-1 variants have also been reported in control populations. 7 variants are recorded in gnomAD at a frequency of ≤0.005, and screening of 663 controls yielded 1 healthy individual with biallelic rare variants in RNU7-1 (Supplementary Table 4).; to: Not associated with any phenotype in OMIM or Gene2Phenotype.

PMID: 33230297 (2020) - 16 individuals from 11 families with biallelic variants in the RNU7-1 gene. Clinical features were typical of Aicardi–Goutières syndrome, including upregulated interferon signalling in patient blood and fibroblasts. 4/12 variants were observed in 2 or more families - several from different ethnic backgrounds. 8 variants are recorded in gnomAD but at a frequency of ≤0.005. Some functional data showing a disturbance of histone RNA processing in patient-derived compared to control fibroblasts.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.391 TLR8 Arina Puzriakova Mode of inheritance for gene: TLR8 was changed from Other to Unknown
Primary immunodeficiency or monogenic inflammatory bowel disease v2.390 TLR8 Arina Puzriakova Tag mosaicism tag was added to gene: TLR8.
Tag somatic tag was added to gene: TLR8.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.390 TLR8 Arina Puzriakova Classified gene: TLR8 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.390 TLR8 Arina Puzriakova Added comment: Comment on list classification: 6 unrelated individuals with relevant phenotype, associated with variants in this gene (https://doi.org/10.1182/blood.2020009620). However, 5 cases had somatic mosaicism and this panel is not appropriate for somatic variant detection due to coverage. Therefore, rating Red but this may be reviewed if additional cases with germline variants emerge.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.390 TLR8 Arina Puzriakova Gene: tlr8 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.389 TLR8 Arina Puzriakova Publications for gene: TLR8 were set to 10.1182/blood.2020009620
Primary immunodeficiency or monogenic inflammatory bowel disease v2.388 GIMAP6 Arina Puzriakova changed review comment from: Comment on list classification: New gene added by Boaz Palterer. Biallelic variant identified in a patient with lymphopenia and recurrent infections. The same variant was detected in an asymptomatic older sibling and although authors state that GIMAP6 was the best candidate to explain the clinical phenotype in the affected individual, homozygous variants were also identified in 8 other genes. Therefore, there is only enough evidence for a Red rating at present.; to: Comment on list classification: New gene added by Boaz Palterer. Biallelic variant identified in a patient with lymphopenia and recurrent infections. The same variant was detected in an asymptomatic older sibling and although authors state that GIMAP6 was the best candidate to explain the clinical phenotype in the affected individual, homozygous variants were also identified in 8 other genes (PMID: 33328581). Therefore, there is only enough evidence for a Red rating at present.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.388 GIMAP6 Arina Puzriakova Classified gene: GIMAP6 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.388 GIMAP6 Arina Puzriakova Added comment: Comment on list classification: New gene added by Boaz Palterer. Biallelic variant identified in a patient with lymphopenia and recurrent infections. The same variant was detected in an asymptomatic older sibling and although authors state that GIMAP6 was the best candidate to explain the clinical phenotype in the affected individual, homozygous variants were also identified in 8 other genes. Therefore, there is only enough evidence for a Red rating at present.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.388 GIMAP6 Arina Puzriakova Gene: gimap6 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.387 TLR8 Boaz Palterer gene: TLR8 was added
gene: TLR8 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: TLR8 was set to Other
Publications for gene: TLR8 were set to 10.1182/blood.2020009620
Phenotypes for gene: TLR8 were set to neutropenia; lymphoproliferation; hypogammaglobulinemia; bone marrow failure
Penetrance for gene: TLR8 were set to unknown
Mode of pathogenicity for gene: TLR8 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: TLR8 was set to AMBER
Added comment: Aluri et al. (Blood 2020, 10.1182/blood.2020009620) identified six unrelated males with neutropenia, infections, lymphoproliferation, humoral immune defects, and bone marrow failure associated with three different variants in the X-linked gene TLR8, encoding the endosomal Toll-like receptor 8 (TLR8).
The variants are functionally gain-of-function and all patients are males, it's unclear if heterozygous females are affected. Both germline and somatic variants have been identified, but somatic mutations appear to be prominent.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.387 MPI Arina Puzriakova Mode of inheritance for gene: MPI was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.386 MPI Arina Puzriakova Phenotypes for gene: MPI were changed from to Congenital disorder of glycosylation, type Ib, OMIM:602579; MPI-CDG, MONDO:0011257
Primary immunodeficiency or monogenic inflammatory bowel disease v2.385 GIMAP6 Boaz Palterer gene: GIMAP6 was added
gene: GIMAP6 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: GIMAP6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GIMAP6 were set to 33328581
Phenotypes for gene: GIMAP6 were set to Lymphopenia; Sinopulmonary Infections
Penetrance for gene: GIMAP6 were set to unknown
Review for gene: GIMAP6 was set to RED
Added comment: Two siblings with an homozygous variant in GIMAP6 and absent protein expression. One with lymphopenia and recurrent sinopulmonary infections, the other clinically asymptomatic.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.385 TBX21 Arina Puzriakova Classified gene: TBX21 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.385 TBX21 Arina Puzriakova Added comment: Comment on list classification: New gene added by Boaz Palterer. Rating Red as only single patient reported at present with homozygous variants in the TBX21 gene resulting clinically in MSMD. Additional cases required to support pathogenicity and inclusion on a diagnostic panel.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.385 TBX21 Arina Puzriakova Gene: tbx21 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.384 TBX21 Boaz Palterer gene: TBX21 was added
gene: TBX21 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: TBX21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBX21 were set to 33296702
Phenotypes for gene: TBX21 were set to Defects with susceptibility to mycobacterial infection (MSMD); Defects in Intrinsic and Innate Immunity
Penetrance for gene: TBX21 were set to unknown
Review for gene: TBX21 was set to RED
Added comment: One patient from consanguineous parents with homozygous indel. Corroborated by in vitro and mouse model.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.384 LCP2 Arina Puzriakova Tag watchlist tag was added to gene: LCP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.384 LCP2 Arina Puzriakova Classified gene: LCP2 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.384 LCP2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Boaz Palterer (University of Florence). Rating Red pending publication of the Lev et al., 2021 article. Paper only describes a single individual and additional cases would be required before inclusion of LCP2 on an immunodeficiency panel.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.384 LCP2 Arina Puzriakova Gene: lcp2 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.383 LCP2 Arina Puzriakova reviewed gene: LCP2: Rating: ; Mode of pathogenicity: None; Publications: 33231617; Phenotypes: Severe immunodeficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.383 RNU7-1 Arina Puzriakova Tag watchlist tag was added to gene: RNU7-1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.383 RNU7-1 Arina Puzriakova Phenotypes for gene: RNU7-1 were changed from Type I interferonopathy, Aicardi-Goutières syndrome to Type I interferonopathy; Aicardi-Goutières syndrome
Primary immunodeficiency or monogenic inflammatory bowel disease v2.382 RNU7-1 Arina Puzriakova Classified gene: RNU7-1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.382 RNU7-1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Boaz Palterer. Currently only one paper (PMID: 33230297) indicating pathogenicity of RNU7-1 variants, which also reports on a healthy individual with biallelic rare variants in this gene. Rating Amber awaiting further publications/clinical evidence to corroborate this gene-disease association (added 'watchlist' tag)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.382 RNU7-1 Arina Puzriakova Gene: rnu7-1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.381 RNU7-1 Arina Puzriakova reviewed gene: RNU7-1: Rating: AMBER; Mode of pathogenicity: None; Publications: 33230297; Phenotypes: Type I interferonopathy, Aicardi–Goutières syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.381 LSM11 Arina Puzriakova Phenotypes for gene: LSM11 were changed from Type I interferonopathy, Aicardi-Goutières syndrome to Type I interferonopathy; Aicardi-Goutières syndrome
Primary immunodeficiency or monogenic inflammatory bowel disease v2.380 LSM11 Arina Puzriakova Classified gene: LSM11 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.380 LSM11 Arina Puzriakova Gene: lsm11 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.379 LSM11 Arina Puzriakova reviewed gene: LSM11: Rating: ; Mode of pathogenicity: None; Publications: 33230297; Phenotypes: Type I interferonopathy, Aicardi–Goutières syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.379 RNU7-1 Boaz Palterer gene: RNU7-1 was added
gene: RNU7-1 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU7-1 were set to 33230297
Phenotypes for gene: RNU7-1 were set to Type I interferonopathy, Aicardi-Goutières syndrome
Penetrance for gene: RNU7-1 were set to unknown
Review for gene: RNU7-1 was set to AMBER
Added comment: 16 patients belonging to 11 independent pedigrees harbored biallelic variants, with a frequency of ≤0.005 alleles in the Genome Aggregation Database (gnomAD), in the RNU7-1 gene encoding small nuclear RNA (snRNA) U7
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.379 LSM11 Boaz Palterer gene: LSM11 was added
gene: LSM11 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: LSM11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSM11 were set to 33230297
Phenotypes for gene: LSM11 were set to Type I interferonopathy, Aicardi-Goutières syndrome
Penetrance for gene: LSM11 were set to unknown
Review for gene: LSM11 was set to AMBER
Added comment: Two siblings with AGS from consanguineous parents were found to have homozygous LSM11 mutation.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.379 LCP2 Boaz Palterer gene: LCP2 was added
gene: LCP2 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: LCP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LCP2 were set to 33231617
Phenotypes for gene: LCP2 were set to SCID; combined T and B cell immunodeficiency; severe neutrophil defects; impaired platelet aggregation
Penetrance for gene: LCP2 were set to unknown
Review for gene: LCP2 was set to AMBER
Added comment: One patient with severe combined immunodeficiency was found to have biallelic mutations in SLP76.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.379 CNBP Arina Puzriakova Phenotypes for gene: CNBP were changed from Steinert- myotonica dystrophia to Myotonic dystrophy 2, OMIM:602668; Myotonic dystrophy type 2, MONDO:0011266
Primary immunodeficiency or monogenic inflammatory bowel disease v2.378 CNBP Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: CNBP.
Tag currently-ngs-unreportable tag was added to gene: CNBP.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.378 CNBP Arina Puzriakova Classified gene: CNBP as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.378 CNBP Arina Puzriakova Added comment: Comment on list classification: Hypogammaglobulinemia has been reported in some cases which is relevant to this panel. However, patients are more likely to be recognised for skeletal muscle features of the disease presentation. Furthermore, the review is relevant to the CCTG repeat expansion rather than small variants (i.e. LoF, missense, etc) in this gene and therefore maintaining the Red rating on this panel.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.378 CNBP Arina Puzriakova Gene: cnbp has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.377 CNBP Arina Puzriakova Publications for gene: CNBP were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v2.376 CNBP Arina Puzriakova Mode of inheritance for gene: CNBP was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v2.375 UBA1 Arina Puzriakova Classified gene: UBA1 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.375 UBA1 Arina Puzriakova Gene: uba1 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.374 UBA1 Arina Puzriakova Classified gene: UBA1 as No list
Primary immunodeficiency or monogenic inflammatory bowel disease v2.374 UBA1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Relevant phenotype but rating Red as this panel is not appropriate for somatic variant detection due to the coverage and therefore variants are unlikely to be picked up by our current pipeline (added 'somatic' tag).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.374 UBA1 Arina Puzriakova Gene: uba1 has been removed from the panel.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.373 UBA1 Arina Puzriakova Phenotypes for gene: UBA1 were changed from Autoinflammatory disease, adult onset; VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) to VEXAS syndrome, somatic, OMIM:301054
Primary immunodeficiency or monogenic inflammatory bowel disease v2.372 UBA1 Arina Puzriakova Tag somatic tag was added to gene: UBA1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.372 SOCS1 Arina Puzriakova Phenotypes for gene: SOCS1 were changed from Common variable immunodeficiency to Common variable immunodeficiency; Early-onset autoimmunity
Primary immunodeficiency or monogenic inflammatory bowel disease v2.371 SOCS1 Arina Puzriakova Publications for gene: SOCS1 were set to 32499645; 10490099; 10490100
Primary immunodeficiency or monogenic inflammatory bowel disease v2.370 SOCS1 Arina Puzriakova Tag for-review tag was added to gene: SOCS1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.370 SOCS1 Arina Puzriakova Classified gene: SOCS1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.370 SOCS1 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update (added 'for-review' tag) - at least 7 unrelated families with immune dysfunction associated with variants in this gene, as well as supportive functional data and animal model.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.370 SOCS1 Arina Puzriakova Gene: socs1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.369 CNBP Boaz Palterer reviewed gene: CNBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 12601109; Phenotypes: myotonia, muscular dystrophy, cataracts, diabetes, testicular failure, hypogammaglobulinemia, cardiac conduction defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v2.369 CNBP Boaz Palterer Deleted their review
Primary immunodeficiency or monogenic inflammatory bowel disease v2.369 CNBP Boaz Palterer reviewed gene: CNBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 12601109/; Phenotypes: myotonia, muscular dystrophy, cataracts, diabetes, testicular failure, hypogammaglobulinemia, cardiac conduction defects.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v2.369 UBA1 Zornitza Stark gene: UBA1 was added
gene: UBA1 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: UBA1 was set to Other
Publications for gene: UBA1 were set to 33108101
Phenotypes for gene: UBA1 were set to Autoinflammatory disease, adult onset; VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic)
Review for gene: UBA1 was set to GREEN
Added comment: 25 men reported with somatic mutations affecting methionine-41 (p.Met41) in UBA1, the major E1 enzyme that initiates ubiquitylation, and an often fatal, treatment-refractory inflammatory syndrome develops in late adulthood, with fevers, cytopaenias, characteristic vacuoles in myeloid and erythroid precursor cells, dysplastic bone marrow, neutrophilic cutaneous and pulmonary inflammation, chondritis, and vasculitis.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.369 SOCS1 Zornitza Stark edited their review of gene: SOCS1: Added comment: PMID 33087723: Ten individuals from 5 unrelated families with LOF variants in this gene and early-onset autoimmunity. Functional data indicates cytokine hypersensitivity of immune cells.; Changed publications: 32499645, 10490099, 10490100, 33087723; Changed phenotypes: Common variable immunodeficiency, Early-onset autoimmunity
Primary immunodeficiency or monogenic inflammatory bowel disease v2.369 FAAP24 Eleanor Williams edited their review of gene: FAAP24: Added comment: Not associated with a phenotype in OMIM.

PMID: 17289582 - Ciccia et al 2007 - report that FAAP24 (C19ORF40) is a component of the Fanconi anemia (FA) core complex and interacts with the C-terminal region of FANCM. FAAP24 is required for normal levels of FANCD2 monoubiquitylation following DNA damage.

PMID: 27473539 - Daschkey et al 2016 - report a homozygous missense mutation in FAAP24 (cC635T, pT212M) in two siblings of a consanguineous Turkish family who died from an EBV-associated lymphoproliferative disease after infection with a variant EBV strain, expressing a previously unknown EBNA2 allele.; Changed rating: RED; Changed phenotypes: EBV-associated lymphoproliferative disease; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.369 AP3D1 Eleanor Williams Classified gene: AP3D1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.369 AP3D1 Eleanor Williams Added comment: Comment on list classification: Changing the rating from red to amber. Two cases now reported.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.369 AP3D1 Eleanor Williams Gene: ap3d1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.368 AP3D1 Eleanor Williams edited their review of gene: AP3D1: Added comment: Provisionally associated with Hermansky-Pudlak syndrome 10 #617050 (AR) in OMIM.

PMID: 30472485 - Mohammad et al 2019 - 1 family with parents who were first cousins with three affected children who presented similarly with severe seizures, developmental delay, albinism, and immunodeficiency. Whole exome sequencing identified homozygosity for AP3D1 deleterious sequence variant (NM_001261826.3:c.1978delG: p.Ala660Argfs*54) which co-segregated with the phenotype. The variant is not found in the gnomAD database or in an in-house database of 284 exome or Middle Eastern population specific database.

PMID: 26744459 - Ammann et al 2016 - report a patient with consanguineous Turkish parents presenting with albinism, neutropenia, immunodeficiency, neurodevelopmental delay, generalized seizures, and impaired hearing. Whole exome sequencing identified a homozygous mutation in AP3D1 (c.3565_3566delGT) that leads to destabilization of the adaptor protein 3 (AP3) complex.; Changed rating: AMBER; Changed phenotypes: Hermansky-Pudlak syndrome 10, 617050; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.368 STAT5B Arina Puzriakova Tag for-review tag was added to gene: STAT5B.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.368 STAT5B Arina Puzriakova commented on gene: STAT5B
Primary immunodeficiency or monogenic inflammatory bowel disease v2.368 TCF3 Arina Puzriakova Tag for-review tag was added to gene: TCF3.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.368 TCF3 Arina Puzriakova commented on gene: TCF3
Primary immunodeficiency or monogenic inflammatory bowel disease v2.368 PIK3CD Arina Puzriakova Tag for-review tag was added to gene: PIK3CD.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.368 PIK3CD Arina Puzriakova commented on gene: PIK3CD
Primary immunodeficiency or monogenic inflammatory bowel disease v2.368 RIPK1 Arina Puzriakova commented on gene: RIPK1
Primary immunodeficiency or monogenic inflammatory bowel disease v2.368 RIPK1 Arina Puzriakova Tag for-review tag was added to gene: RIPK1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.368 SNORA31 Arina Puzriakova Classified gene: SNORA31 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.368 SNORA31 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.368 SNORA31 Arina Puzriakova Gene: snora31 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.367 SNORA31 Arina Puzriakova Tag for-review tag was added to gene: SNORA31.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.367 BCL10 Arina Puzriakova Classified gene: BCL10 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.367 BCL10 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.367 BCL10 Arina Puzriakova Gene: bcl10 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.366 BCL10 Arina Puzriakova Tag for-review tag was added to gene: BCL10.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.366 ZNF341 Arina Puzriakova Classified gene: ZNF341 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.366 ZNF341 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.366 ZNF341 Arina Puzriakova Gene: znf341 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.365 ZNF341 Arina Puzriakova Tag for-review tag was added to gene: ZNF341.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.365 WDR1 Arina Puzriakova Classified gene: WDR1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.365 WDR1 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.365 WDR1 Arina Puzriakova Gene: wdr1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.364 WDR1 Arina Puzriakova Tag for-review tag was added to gene: WDR1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.364 USP18 Arina Puzriakova Classified gene: USP18 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.364 USP18 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.364 USP18 Arina Puzriakova Gene: usp18 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.363 USP18 Arina Puzriakova Tag for-review tag was added to gene: USP18.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.363 TRIM22 Arina Puzriakova Classified gene: TRIM22 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.363 TRIM22 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.363 TRIM22 Arina Puzriakova Gene: trim22 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.362 TRIM22 Arina Puzriakova Tag for-review tag was added to gene: TRIM22.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.362 TOP2B Arina Puzriakova Classified gene: TOP2B as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.362 TOP2B Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.362 TOP2B Arina Puzriakova Gene: top2b has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.361 TOP2B Arina Puzriakova Tag for-review tag was added to gene: TOP2B.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.361 TNFRSF9 Arina Puzriakova Classified gene: TNFRSF9 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.361 TNFRSF9 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.361 TNFRSF9 Arina Puzriakova Gene: tnfrsf9 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.360 TNFRSF9 Arina Puzriakova Tag for-review tag was added to gene: TNFRSF9.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.360 NFE2L2 Arina Puzriakova Classified gene: NFE2L2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.360 NFE2L2 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.360 NFE2L2 Arina Puzriakova Gene: nfe2l2 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.359 NFE2L2 Arina Puzriakova Tag for-review tag was added to gene: NFE2L2.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.359 SRP54 Arina Puzriakova Classified gene: SRP54 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.359 SRP54 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.359 SRP54 Arina Puzriakova Gene: srp54 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.358 SRP54 Arina Puzriakova Tag for-review tag was added to gene: SRP54.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.358 SMARCD2 Arina Puzriakova Classified gene: SMARCD2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.358 SMARCD2 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.358 SMARCD2 Arina Puzriakova Gene: smarcd2 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.357 SMARCD2 Arina Puzriakova Tag for-review tag was added to gene: SMARCD2.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.357 RECQL4 Arina Puzriakova Classified gene: RECQL4 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.357 RECQL4 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.357 RECQL4 Arina Puzriakova Gene: recql4 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.356 RECQL4 Arina Puzriakova Tag for-review tag was added to gene: RECQL4.
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 Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
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 v2.355 RAC2 Arina Puzriakova Classified gene: RAC2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.355 RAC2 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.355 RAC2 Arina Puzriakova Gene: rac2 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.354 RAC2 Arina Puzriakova Tag for-review tag was added to gene: RAC2.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.354 SLC7A7 Arina Puzriakova Classified gene: SLC7A7 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.354 SLC7A7 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.354 SLC7A7 Arina Puzriakova Gene: slc7a7 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.353 SLC7A7 Arina Puzriakova Tag for-review tag was added to gene: SLC7A7.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.353 CIB1 Arina Puzriakova Classified gene: CIB1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.353 CIB1 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.353 CIB1 Arina Puzriakova Gene: cib1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.352 CIB1 Arina Puzriakova Tag for-review tag was added to gene: CIB1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.352 C17orf62 Arina Puzriakova Classified gene: C17orf62 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.352 C17orf62 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.352 C17orf62 Arina Puzriakova Gene: c17orf62 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.351 C17orf62 Arina Puzriakova Tag for-review tag was added to gene: C17orf62.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.351 ADAM17 Arina Puzriakova Classified gene: ADAM17 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.351 ADAM17 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.351 ADAM17 Arina Puzriakova Gene: adam17 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.350 ADAM17 Arina Puzriakova Tag for-review tag was added to gene: ADAM17.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.350 EFL1 Arina Puzriakova Classified gene: EFL1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.350 EFL1 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.350 EFL1 Arina Puzriakova Gene: efl1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.349 EFL1 Arina Puzriakova Tag for-review tag was added to gene: EFL1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.349 DBR1 Arina Puzriakova Classified gene: DBR1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.349 DBR1 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.349 DBR1 Arina Puzriakova Gene: dbr1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.348 DBR1 Arina Puzriakova Tag for-review tag was added to gene: DBR1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.348 DNASE1L3 Arina Puzriakova Classified gene: DNASE1L3 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.348 DNASE1L3 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.348 DNASE1L3 Arina Puzriakova Gene: dnase1l3 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.347 DNASE1L3 Arina Puzriakova Tag for-review tag was added to gene: DNASE1L3.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.347 POLE Arina Puzriakova Classified gene: POLE as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.347 POLE Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.347 POLE Arina Puzriakova Gene: pole has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.346 POLE Arina Puzriakova Tag for-review tag was added to gene: POLE.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.346 PAX1 Arina Puzriakova Classified gene: PAX1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.346 PAX1 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.346 PAX1 Arina Puzriakova Gene: pax1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.345 PAX1 Arina Puzriakova Tag for-review tag was added to gene: PAX1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.345 LIG1 Arina Puzriakova Classified gene: LIG1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.345 LIG1 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.345 LIG1 Arina Puzriakova Gene: lig1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.344 LIG1 Arina Puzriakova Tag for-review tag was added to gene: LIG1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.344 PIK3CG Arina Puzriakova Tag for-review tag was added to gene: PIK3CG.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.344 PIK3CG Arina Puzriakova Classified gene: PIK3CG as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.344 PIK3CG Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.344 PIK3CG Arina Puzriakova Gene: pik3cg has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.343 CDC42 Arina Puzriakova Classified gene: CDC42 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.343 CDC42 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.343 CDC42 Arina Puzriakova Gene: cdc42 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.342 CDC42 Arina Puzriakova Tag for-review tag was added to gene: CDC42.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.342 IL6ST Arina Puzriakova Classified gene: IL6ST as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.342 IL6ST Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.342 IL6ST Arina Puzriakova Gene: il6st has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.341 IL6ST Arina Puzriakova Tag for-review tag was added to gene: IL6ST.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.341 FCHO1 Arina Puzriakova Classified gene: FCHO1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.341 FCHO1 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.341 FCHO1 Arina Puzriakova Gene: fcho1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.340 FCHO1 Arina Puzriakova Tag for-review tag was added to gene: FCHO1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.340 IL6R Arina Puzriakova Classified gene: IL6R as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.340 IL6R Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.340 IL6R Arina Puzriakova Gene: il6r has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.339 IL6R Arina Puzriakova Tag for-review tag was added to gene: IL6R.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.339 IL2RB Arina Puzriakova Classified gene: IL2RB as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.339 IL2RB Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.339 IL2RB Arina Puzriakova Gene: il2rb has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.338 IL2RB Arina Puzriakova Tag for-review tag was added to gene: IL2RB.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.338 HAVCR2 Arina Puzriakova Classified gene: HAVCR2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.338 HAVCR2 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.338 HAVCR2 Arina Puzriakova Gene: havcr2 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.337 HAVCR2 Arina Puzriakova Tag for-review tag was added to gene: HAVCR2.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.337 OAS1 Arina Puzriakova Classified gene: OAS1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.337 OAS1 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.337 OAS1 Arina Puzriakova Gene: oas1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.336 OAS1 Arina Puzriakova Tag for-review tag was added to gene: OAS1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.336 CD247 Arina Puzriakova Classified gene: CD247 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.336 CD247 Arina Puzriakova Added comment: Comment on list classification: Changed rating to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.336 CD247 Arina Puzriakova Gene: cd247 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.335 CD247 Arina Puzriakova Tag for-review tag was added to gene: CD247.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.335 ISCA-37433-Loss Eleanor Williams Publications for Region: ISCA-37433-Loss were set to 15889418; 20301696; 15545748
Primary immunodeficiency or monogenic inflammatory bowel disease v2.334 ISCA-37433-Loss Eleanor Williams edited their review of Region: ISCA-37433-Loss: Added comment: The following PubMed IDs were added to entity ISCA-37433-Loss: 12548732. These publications have been associated with OMIM phenotype MIM#188400, which is listed for this entity, by the immunodeficiencies subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.; Changed publications: 24198816, 20425828, 12548732
Primary immunodeficiency or monogenic inflammatory bowel disease v2.334 ISCA-37433-Loss Eleanor Williams reviewed Region: ISCA-37433-Loss: Rating: ; Mode of pathogenicity: None; Publications: 24198816, 20425828; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.334 ISCA-37446-Loss Eleanor Williams Publications for Region: ISCA-37446-Loss were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v2.333 ISCA-37446-Loss Eleanor Williams reviewed Region: ISCA-37446-Loss: Rating: ; Mode of pathogenicity: None; Publications: 12548732; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.333 ZAP70 Eleanor Williams Classified gene: ZAP70 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.333 ZAP70 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.333 ZAP70 Eleanor Williams Gene: zap70 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.332 XIAP Eleanor Williams Classified gene: XIAP as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.332 XIAP Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.332 XIAP Eleanor Williams Gene: xiap has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.331 UNC13D Eleanor Williams Classified gene: UNC13D as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.331 UNC13D Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.331 UNC13D Eleanor Williams Gene: unc13d has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.330 TTC7A Eleanor Williams Classified gene: TTC7A as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.330 TTC7A Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.330 TTC7A Eleanor Williams Gene: ttc7a has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.329 TREX1 Eleanor Williams Classified gene: TREX1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.329 TREX1 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.329 TREX1 Eleanor Williams Gene: trex1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.328 TRAC Eleanor Williams Classified gene: TRAC as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.328 TRAC Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.328 TRAC Eleanor Williams Gene: trac has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.327 TPP2 Eleanor Williams Classified gene: TPP2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.327 TPP2 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.327 TPP2 Eleanor Williams Gene: tpp2 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.326 TNFRSF1A Eleanor Williams Classified gene: TNFRSF1A as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.326 TNFRSF1A Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.326 TNFRSF1A Eleanor Williams Gene: tnfrsf1a has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.325 TNFAIP3 Eleanor Williams Classified gene: TNFAIP3 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.325 TNFAIP3 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.325 TNFAIP3 Eleanor Williams Gene: tnfaip3 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.324 TMEM173 Eleanor Williams Classified gene: TMEM173 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.324 TMEM173 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.324 TMEM173 Eleanor Williams Gene: tmem173 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.323 TCN2 Eleanor Williams Classified gene: TCN2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.323 TCN2 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.323 TCN2 Eleanor Williams Gene: tcn2 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.322 TAP2 Eleanor Williams Classified gene: TAP2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.322 TAP2 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.322 TAP2 Eleanor Williams Gene: tap2 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.321 TAP1 Eleanor Williams Classified gene: TAP1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.321 TAP1 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.321 TAP1 Eleanor Williams Gene: tap1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.320 STXBP2 Eleanor Williams Classified gene: STXBP2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.320 STXBP2 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.320 STXBP2 Eleanor Williams Gene: stxbp2 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.319 STXBP2 Eleanor Williams Classified gene: STXBP2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.319 STXBP2 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.319 STXBP2 Eleanor Williams Gene: stxbp2 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.318 STX11 Eleanor Williams Classified gene: STX11 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.318 STX11 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.318 STX11 Eleanor Williams Gene: stx11 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.317 STK4 Eleanor Williams Classified gene: STK4 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.317 STK4 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.317 STK4 Eleanor Williams Gene: stk4 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.316 STIM1 Eleanor Williams Classified gene: STIM1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.316 STIM1 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.316 STIM1 Eleanor Williams Gene: stim1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.315 STAT5B Eleanor Williams Classified gene: STAT5B as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.315 STAT5B Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.315 STAT5B Eleanor Williams Gene: stat5b has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.314 STAT3 Eleanor Williams Classified gene: STAT3 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.314 STAT3 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.314 STAT3 Eleanor Williams Gene: stat3 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.313 SP110 Eleanor Williams Classified gene: SP110 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.313 SP110 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.313 SP110 Eleanor Williams Gene: sp110 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.312 SMARCAL1 Eleanor Williams Classified gene: SMARCAL1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.312 SMARCAL1 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.312 SMARCAL1 Eleanor Williams Gene: smarcal1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.311 SLC46A1 Eleanor Williams Classified gene: SLC46A1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.311 SLC46A1 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.311 SLC46A1 Eleanor Williams Gene: slc46a1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.310 SLC29A3 Eleanor Williams Classified gene: SLC29A3 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.310 SLC29A3 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.310 SLC29A3 Eleanor Williams Gene: slc29a3 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.309 SH2D1A Eleanor Williams Classified gene: SH2D1A as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.309 SH2D1A Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.309 SH2D1A Eleanor Williams Gene: sh2d1a has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.308 RMRP Eleanor Williams Classified gene: RMRP as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.308 RMRP Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.308 RMRP Eleanor Williams Gene: rmrp has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.307 RFXAP Eleanor Williams Classified gene: RFXAP as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.307 RFXAP Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.307 RFXAP Eleanor Williams Gene: rfxap has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.306 RFXANK Eleanor Williams Classified gene: RFXANK as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.306 RFXANK Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.306 RFXANK Eleanor Williams Gene: rfxank has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.305 RFX5 Eleanor Williams Classified gene: RFX5 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.305 RFX5 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.305 RFX5 Eleanor Williams Gene: rfx5 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.304 RBCK1 Eleanor Williams Classified gene: RBCK1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.304 RBCK1 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.304 RBCK1 Eleanor Williams Gene: rbck1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.303 RASGRP1 Eleanor Williams Classified gene: RASGRP1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.303 RASGRP1 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.303 RASGRP1 Eleanor Williams Gene: rasgrp1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.302 RAG2 Eleanor Williams Classified gene: RAG2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.302 RAG2 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.302 RAG2 Eleanor Williams Gene: rag2 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.301 RAG1 Eleanor Williams Classified gene: RAG1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.301 RAG1 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.301 RAG1 Eleanor Williams Gene: rag1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.300 RAB27A Eleanor Williams Classified gene: RAB27A as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.300 RAB27A Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.300 RAB27A Eleanor Williams Gene: rab27a has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.299 PTPRC Eleanor Williams Classified gene: PTPRC as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.299 PTPRC Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.299 PTPRC Eleanor Williams Gene: ptprc has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.298 PSTPIP1 Eleanor Williams Classified gene: PSTPIP1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.298 PSTPIP1 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.298 PSTPIP1 Eleanor Williams Gene: pstpip1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.297 PSMB8 Eleanor Williams Classified gene: PSMB8 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.297 PSMB8 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.297 PSMB8 Eleanor Williams Gene: psmb8 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.296 PRKCD Eleanor Williams Classified gene: PRKCD as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.296 PRKCD Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.296 PRKCD Eleanor Williams Gene: prkcd has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.295 PRF1 Eleanor Williams Classified gene: PRF1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.295 PRF1 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.295 PRF1 Eleanor Williams Gene: prf1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.294 POLA1 Eleanor Williams Classified gene: POLA1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.294 POLA1 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.294 POLA1 Eleanor Williams Gene: pola1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.293 PNP Eleanor Williams Classified gene: PNP as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.293 PNP Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.293 PNP Eleanor Williams Gene: pnp has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.292 PLCG2 Eleanor Williams Classified gene: PLCG2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.292 PLCG2 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.292 PLCG2 Eleanor Williams Gene: plcg2 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.291 PEPD Eleanor Williams Classified gene: PEPD as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.291 PEPD Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.291 PEPD Eleanor Williams Gene: pepd has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.290 OTULIN Eleanor Williams Classified gene: OTULIN as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.290 OTULIN Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.290 OTULIN Eleanor Williams Gene: otulin has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.289 ORAI1 Eleanor Williams Classified gene: ORAI1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.289 ORAI1 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.289 ORAI1 Eleanor Williams Gene: orai1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.288 NOD2 Eleanor Williams Classified gene: NOD2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.288 NOD2 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.288 NOD2 Eleanor Williams Gene: nod2 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.287 NLRP3 Eleanor Williams Classified gene: NLRP3 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.287 NLRP3 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.287 NLRP3 Eleanor Williams Gene: nlrp3 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.286 NLRP12 Eleanor Williams Classified gene: NLRP12 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.286 NLRP12 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.286 NLRP12 Eleanor Williams Gene: nlrp12 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.285 NLRC4 Eleanor Williams Classified gene: NLRC4 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.285 NLRC4 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.285 NLRC4 Eleanor Williams Gene: nlrc4 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.284 NHEJ1 Eleanor Williams Classified gene: NHEJ1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.284 NHEJ1 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.284 NHEJ1 Eleanor Williams Gene: nhej1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.283 NFKBIA Eleanor Williams Classified gene: NFKBIA as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.283 NFKBIA Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.283 NFKBIA Eleanor Williams Gene: nfkbia has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.282 MYSM1 Eleanor Williams Classified gene: MYSM1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.282 MYSM1 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.282 MYSM1 Eleanor Williams Gene: mysm1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.281 MVK Eleanor Williams Classified gene: MVK as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.281 MVK Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.281 MVK Eleanor Williams Gene: mvk has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.280 MTHFD1 Eleanor Williams Classified gene: MTHFD1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.280 MTHFD1 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.280 MTHFD1 Eleanor Williams Gene: mthfd1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.279 MSN Eleanor Williams Classified gene: MSN as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.279 MSN Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.279 MSN Eleanor Williams Gene: msn has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.278 MEFV Eleanor Williams Classified gene: MEFV as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.278 MEFV Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.278 MEFV Eleanor Williams Gene: mefv has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.277 MAP3K14 Eleanor Williams Classified gene: MAP3K14 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.277 MAP3K14 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.277 MAP3K14 Eleanor Williams Gene: map3k14 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.276 MALT1 Eleanor Williams Classified gene: MALT1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.276 MALT1 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.276 MALT1 Eleanor Williams Gene: malt1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.275 MAGT1 Eleanor Williams Classified gene: MAGT1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.275 MAGT1 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.275 MAGT1 Eleanor Williams Gene: magt1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.274 LYST Eleanor Williams Classified gene: LYST as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.274 LYST Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.274 LYST Eleanor Williams Gene: lyst has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.273 LRBA Eleanor Williams Classified gene: LRBA as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.273 LRBA Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.273 LRBA Eleanor Williams Gene: lrba has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.272 LPIN2 Eleanor Williams Classified gene: LPIN2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.272 LPIN2 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.272 LPIN2 Eleanor Williams Gene: lpin2 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.271 LIG4 Eleanor Williams Classified gene: LIG4 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.271 LIG4 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.271 LIG4 Eleanor Williams Gene: lig4 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.270 LCK Eleanor Williams Classified gene: LCK as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.270 LCK Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.270 LCK Eleanor Williams Gene: lck has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.269 LAT Eleanor Williams Classified gene: LAT as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.269 LAT Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.269 LAT Eleanor Williams Gene: lat has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.268 JAK3 Eleanor Williams Classified gene: JAK3 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.268 JAK3 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.268 JAK3 Eleanor Williams Gene: jak3 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.267 ITK Eleanor Williams Classified gene: ITK as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.267 ITK Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.267 ITK Eleanor Williams Gene: itk has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.266 ITCH Eleanor Williams Classified gene: ITCH as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.266 ITCH Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.266 ITCH Eleanor Williams Gene: itch has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.265 IL7R Eleanor Williams Classified gene: IL7R as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.265 IL7R Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.265 IL7R Eleanor Williams Gene: il7r has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.264 IL36RN Eleanor Williams Classified gene: IL36RN as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.264 IL36RN Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.264 IL36RN Eleanor Williams Gene: il36rn has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.263 IL2RG Eleanor Williams Classified gene: IL2RG as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.263 IL2RG Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.263 IL2RG Eleanor Williams Gene: il2rg has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.262 IL2RA Eleanor Williams Classified gene: IL2RA as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.262 IL2RA Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.262 IL2RA Eleanor Williams Gene: il2ra has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.261 IL21R Eleanor Williams Classified gene: IL21R as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.261 IL21R Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.261 IL21R Eleanor Williams Gene: il21r has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.260 IL1RN Eleanor Williams Classified gene: IL1RN as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.260 IL1RN Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.260 IL1RN Eleanor Williams Gene: il1rn has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.259 IL10RB Eleanor Williams Classified gene: IL10RB as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.259 IL10RB Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.259 IL10RB Eleanor Williams Gene: il10rb has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.258 IL10RA Eleanor Williams Classified gene: IL10RA as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.258 IL10RA Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.258 IL10RA Eleanor Williams Gene: il10ra has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.257 IL10 Eleanor Williams Classified gene: IL10 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.257 IL10 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.257 IL10 Eleanor Williams Gene: il10 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.256 IKBKG Eleanor Williams Classified gene: IKBKG as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.256 IKBKG Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.256 IKBKG Eleanor Williams Gene: ikbkg has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.255 IKBKB Eleanor Williams Classified gene: IKBKB as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.255 IKBKB Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.255 IKBKB Eleanor Williams Gene: ikbkb has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.254 ICOS Eleanor Williams Classified gene: ICOS as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.254 ICOS Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.254 ICOS Eleanor Williams Gene: icos has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.253 FOXP3 Eleanor Williams Classified gene: FOXP3 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.253 FOXP3 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.253 FOXP3 Eleanor Williams Gene: foxp3 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.252 FOXN1 Eleanor Williams Classified gene: FOXN1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.252 FOXN1 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.252 FOXN1 Eleanor Williams Gene: foxn1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.251 FAT4 Eleanor Williams Classified gene: FAT4 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.251 FAT4 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.251 FAT4 Eleanor Williams Gene: fat4 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.250 FASLG Eleanor Williams Classified gene: FASLG as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.250 FASLG Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.250 FASLG Eleanor Williams Gene: faslg has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.249 FAS Eleanor Williams Classified gene: FAS as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.249 FAS Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.249 FAS Eleanor Williams Gene: fas has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.248 FADD Eleanor Williams Classified gene: FADD as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.248 FADD Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.248 FADD Eleanor Williams Gene: fadd has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.247 EXTL3 Eleanor Williams Classified gene: EXTL3 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.247 EXTL3 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.247 EXTL3 Eleanor Williams Gene: extl3 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.246 EPG5 Eleanor Williams Classified gene: EPG5 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.246 EPG5 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.246 EPG5 Eleanor Williams Gene: epg5 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.245 DOCK8 Eleanor Williams Classified gene: DOCK8 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.245 DOCK8 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.245 DOCK8 Eleanor Williams Gene: dock8 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.244 DOCK2 Eleanor Williams Classified gene: DOCK2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.244 DOCK2 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.244 DOCK2 Eleanor Williams Gene: dock2 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.243 DCLRE1C Eleanor Williams Classified gene: DCLRE1C as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.243 DCLRE1C Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.243 DCLRE1C Eleanor Williams Gene: dclre1c has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.242 CTPS1 Eleanor Williams Classified gene: CTPS1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.242 CTPS1 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.242 CTPS1 Eleanor Williams Gene: ctps1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.241 CTLA4 Eleanor Williams Classified gene: CTLA4 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.241 CTLA4 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.241 CTLA4 Eleanor Williams Gene: ctla4 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.240 CORO1A Eleanor Williams Classified gene: CORO1A as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.240 CORO1A Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.240 CORO1A Eleanor Williams Gene: coro1a has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.239 COPA Eleanor Williams Classified gene: COPA as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.239 COPA Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.239 COPA Eleanor Williams Gene: copa has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.238 CIITA Eleanor Williams Classified gene: CIITA as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.238 CIITA Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.238 CIITA Eleanor Williams Gene: ciita has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.237 CD70 Eleanor Williams Classified gene: CD70 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.237 CD70 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.237 CD70 Eleanor Williams Gene: cd70 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.236 CD40LG Eleanor Williams Classified gene: CD40LG as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.236 CD40LG Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.236 CD40LG Eleanor Williams Gene: cd40lg has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.235 CD40 Eleanor Williams Classified gene: CD40 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.235 CD40 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.235 CD40 Eleanor Williams Gene: cd40 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.234 CD3G Eleanor Williams Classified gene: CD3G as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.234 CD3G Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.234 CD3G Eleanor Williams Gene: cd3g has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.233 CD3E Eleanor Williams Classified gene: CD3E as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.233 CD3E Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.233 CD3E Eleanor Williams Gene: cd3e has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.232 CD3D Eleanor Williams Classified gene: CD3D as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.232 CD3D Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.232 CD3D Eleanor Williams Gene: cd3d has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.231 CD27 Eleanor Williams Classified gene: CD27 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.231 CD27 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.231 CD27 Eleanor Williams Gene: cd27 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.230 CCBE1 Eleanor Williams Classified gene: CCBE1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.230 CCBE1 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.230 CCBE1 Eleanor Williams Gene: ccbe1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.229 CASP8 Eleanor Williams Classified gene: CASP8 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.229 CASP8 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.229 CASP8 Eleanor Williams Gene: casp8 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.228 CASP10 Eleanor Williams Classified gene: CASP10 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.228 CASP10 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.228 CASP10 Eleanor Williams Gene: casp10 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.227 CARMIL2 Eleanor Williams Classified gene: CARMIL2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.227 CARMIL2 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.227 CARMIL2 Eleanor Williams Gene: carmil2 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.226 CARD14 Eleanor Williams Classified gene: CARD14 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.226 CARD14 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.226 CARD14 Eleanor Williams Gene: card14 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.225 CARD11 Eleanor Williams Classified gene: CARD11 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.225 CARD11 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.225 CARD11 Eleanor Williams Gene: card11 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.224 BACH2 Eleanor Williams Classified gene: BACH2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.224 BACH2 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.224 BACH2 Eleanor Williams Gene: bach2 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.223 B2M Eleanor Williams Classified gene: B2M as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.223 B2M Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.223 B2M Eleanor Williams Gene: b2m has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.222 AP3B1 Eleanor Williams Classified gene: AP3B1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.222 AP3B1 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.222 AP3B1 Eleanor Williams Gene: ap3b1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.221 AK2 Eleanor Williams Classified gene: AK2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.221 AK2 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.221 AK2 Eleanor Williams Gene: ak2 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.220 AIRE Eleanor Williams Classified gene: AIRE as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.220 AIRE Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.220 AIRE Eleanor Williams Gene: aire has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.219 ADA2 Eleanor Williams Classified gene: ADA2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.219 ADA2 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.219 ADA2 Eleanor Williams Gene: ada2 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.218 ADA Eleanor Williams Classified gene: ADA as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.218 ADA Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.218 ADA Eleanor Williams Gene: ada has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.217 ACP5 Eleanor Williams Classified gene: ACP5 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.217 ACP5 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.217 ACP5 Eleanor Williams Gene: acp5 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.216 TBX1 Eleanor Williams Classified gene: TBX1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.216 TBX1 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Amber. This gene was rated as Amber in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.216 TBX1 Eleanor Williams Gene: tbx1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.215 TAPBP Eleanor Williams Classified gene: TAPBP as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.215 TAPBP Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Amber. This gene was rated as Amber in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.215 TAPBP Eleanor Williams Gene: tapbp has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.214 RHOH Eleanor Williams Classified gene: RHOH as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.214 RHOH Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Amber. This gene was rated as Amber in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.214 RHOH Eleanor Williams Gene: rhoh has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.213 NLRP1 Eleanor Williams Classified gene: NLRP1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.213 NLRP1 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Amber. This gene was rated as Amber in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.213 NLRP1 Eleanor Williams Gene: nlrp1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.212 IL21 Eleanor Williams Classified gene: IL21 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.212 IL21 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Amber. This gene was rated as Amber in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.212 IL21 Eleanor Williams Gene: il21 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.211 CD8A Eleanor Williams Classified gene: CD8A as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.211 CD8A Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Amber. This gene was rated as Amber in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.211 CD8A Eleanor Williams Gene: cd8a has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.210 AP1S3 Eleanor Williams Classified gene: AP1S3 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.210 AP1S3 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Amber. This gene was rated as Amber in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.210 AP1S3 Eleanor Williams Gene: ap1s3 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 SH3BP2 Eleanor Williams Source Other was added to SH3BP2.
Publications for gene SH3BP2 were updated from 29669173; 22640988; 32048120; 28914985; 11381256; 32086639; 25705883; 25470448; 25220465 to 25220465; 11381256; 25705883; 25470448; 32048120; 32086639; 29669173; 11113824; 22640988; 28914985; 16053841
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 TFRC Eleanor Williams Source Other was added to TFRC.
Publications for gene TFRC were updated from 32048120; 32086639; 26642240 to 32086639; 26642240; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 TBX1 Eleanor Williams Source Other was added to TBX1.
Publications for gene TBX1 were updated from 11242110; 14585638; 24198816; 32048120; 32086639 to 11242110; 32048120; 32086639; 14585638; 24198816; 12548732
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 NLRP1 Eleanor Williams Source Other was added to NLRP1.
Publications for gene NLRP1 were updated from 29850521; 27662089; 31484767; 27965258 to 27965258; 31484767; 27662089; 29850521
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 IL21 Eleanor Williams Source Other was added to IL21.
Publications for gene IL21 were updated from 32048120; 24746753; 32086639 to 32086639; 24746753; 32048120
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 BCL11B Eleanor Williams Publications for gene BCL11B were updated from 27959755; 32086639; 29296816; 32048120 to 27959755; 32086639; 29296816; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 AP1S3 Eleanor Williams Source Other was added to AP1S3.
Publications for gene AP1S3 were updated from 32048120; 32086639 to 32086639; 24791904; 32048120
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 XIAP Eleanor Williams Source Other was added to XIAP.
Publications for gene XIAP were updated from 17080092; 21119115; 25943627; 21173700; 22228567 to 26581487; 21119115; 23973892; 17080092; 21173700; 22228567; 23131490; 25943627; 31754776
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 UNC13D Eleanor Williams Source Other was added to UNC13D.
Publications for gene UNC13D were updated from 14622600; 16278825; 15632205; 17993578; 15703195 to 15703195; 16278825; 17993578; 27914778; 15632205; 14622600; 29312353
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 TREX1 Eleanor Williams Source Other was added to TREX1.
Publications for gene TREX1 were updated from 20799324; 16845398; 21808053; 25604658 to 16845398; 25604658; 21808053; 17846997; 20799324
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 TRAC Eleanor Williams Source Other was added to TRAC.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 TNFRSF1A Eleanor Williams Source Other was added to TNFRSF1A.
Publications for gene TNFRSF1A were updated from 10199409; 11175303; 10902757; 17360963 to 10199409; 12209523; 11175303; 10902757; 23965844; 17360963; 11115159
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 TNFAIP3 Eleanor Williams Source Other was added to TNFAIP3.
Publications for gene TNFAIP3 were updated from 26642243; 27845235; 29572183; 28659290; 29317407 to 31164164; 29317407; 26642243; 28659290; 27845235; 29572183
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 TMEM173 Eleanor Williams Source Other was added to TMEM173.
Publications for gene TMEM173 were updated from 25029335; 25401470; 30705050; 29976662; 29491158; 29425920 to 25401470; 29425920; 25029335; 29491158; 29976662; 30705050
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 STXBP2 Eleanor Williams Source Other was added to STXBP2.
Publications for gene STXBP2 were updated from 19804848; 19884660; 20798128; 20301617 to 19884660; 30557712; 29776323; 22451424; 20798128; 20301617; 19804848
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 STX11 Eleanor Williams Source Other was added to STX11.
Publications for gene STX11 were updated from 15703195; 16278825; 16582076; 24459464; 20301617 to 16278825; 18710388; 16582076; 20301617; 24459464; 15703195
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 STK4 Eleanor Williams Source Other was added to STK4.
Publications for gene STK4 were updated from 22174160; 22294732; 26801501; 26117625; 24453252 to 22294732; 26801501; 24453252; 26117625; 22174160
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 STAT3 Eleanor Williams Source Other was added to STAT3.
Publications for gene STAT3 were updated from 17676033; 17881745; 25038750; 25359994 to 28402852; 25349174; 17881745; 17676033; 25359994; 25038750
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 SLC29A3 Eleanor Williams Source Other was added to SLC29A3.
Publications for gene SLC29A3 were updated from 16650224; 18940313; 20619369; 17461801; 19336477; 16155931; 20140240; 16118898; 21178579; 19175903; 9545394; 21888995; 23530176; 18947330; 22238637; 22653152; 22875837 to 17461801; 19336477; 23530176; 18940313; 22238637; 16118898; 22875837; 19175903; 21888995; 20140240; 16155931; 21178579; 9545394; 16650224; 22653152; 18947330; 20619369
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 SH2D1A Eleanor Williams Source Other was added to SH2D1A.
Publications for gene SH2D1A were updated from 9771704; 10556288; 10598819; 10694488; 11049992; 29670631; 9774102 to 21119115; 29670631; 10556288; 9774102; 11049992; 10598819; 9771704; 10694488; 25085526; 31754776
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 PSTPIP1 Eleanor Williams Source Other was added to PSTPIP1.
Publications for gene PSTPIP1 were updated from 28251506; 28628471; 28960754; 29575118; 26025129 to 21532836; 9212761; 28628471; 28251506; 28960754; 22161697; 26025129; 29575118
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 PRF1 Eleanor Williams Source Other was added to PRF1.
Publications for gene PRF1 were updated from 11179007; 10583959; 12229880; 14757862; 20301617; 15365097; 15632205; 14757862; 16860143 to 28468610; 22248322; 12229880; 28806468; 15365097; 11179007; 14757862; 16860143; 10583959; 15632205; 20301617
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 POLA1 Eleanor Williams Source Other was added to POLA1.
Publications for gene POLA1 were updated from 27019227 to 27019227; 6794369; 15804299
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 PLCG2 Eleanor Williams Source Other was added to PLCG2.
Publications for gene PLCG2 were updated from 22236196; 23000145; 29538758 to 23000145; 29538758; 25760457; 22236196
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 OTULIN Eleanor Williams Source Other was added to OTULIN.
Publications for gene OTULIN were updated from 27523608; 27559085 to 27559085; 27523608
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 NOD2 Eleanor Williams Source Other was added to NOD2.
Publications for gene NOD2 were updated from 11528384; 18955195; 15459013; 4056967 to 11528384; 25416713; 4056967; 25136265; 15459013; 19479837; 18955195; 28887115
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 NLRP3 Eleanor Williams Publications for gene NLRP3 were updated from 28847925; 12522564; 11590390; 14872505; 14476827; 29366613; 11992256; 12032915; 11687797 to 28847925; 12522564; 11590390; 14872505; 18423104; 14476827; 29366613; 11992256; 12032915; 11687797
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 NLRP3 Eleanor Williams Publications for gene NLRP3 were updated from 28847925; 12522564; 29366613; 11992256; 12032915; 11687797 to 28847925; 12522564; 11590390; 14872505; 14476827; 29366613; 11992256; 12032915; 11687797
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 NLRP3 Eleanor Williams Source Other was added to NLRP3.
Publications for gene NLRP3 were updated from 11687797; 11992256; 12032915; 12522564; 28847925; 29366613 to 28847925; 12522564; 29366613; 11992256; 12032915; 11687797
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 NLRP12 Eleanor Williams Source Other was added to NLRP12.
Publications for gene NLRP12 were updated from 18230725; 27779193; 27633793; 29178652; 29248470 to 18230725; 27633793; 29178652; 21360512; 27779193; 29248470
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 NLRC4 Eleanor Williams Publications for gene NLRC4 were updated from 27876626; 25217959; 25385754; 25217960 to 27876626; 25217959; 25385754; 25217960
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 NLRC4 Eleanor Williams Source Other was added to NLRC4.
Publications for gene NLRC4 were updated from 25217960; 25217959; 25385754; 27876626 to 27876626; 25217959; 25385754; 25217960
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 MVK Eleanor Williams Source Other was added to MVK.
Publications for gene MVK were updated from 10369261; 16435210 to 19011501; 16435210; 22038276; 21708801; 10369261
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 MSN Eleanor Williams Source Other was added to MSN.
Publications for gene MSN were updated from 27405666; 29556235 to 29556235; 27405666
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 MEFV Eleanor Williams Publications for gene MEFV were updated from 9288094; 9668175; 14679589; 10090880; 9266193; 10787449; 11903360; 15643295; 11242116 to 9288094; 9668175; 14679589; 10090880; 9266193; 10787449; 11903360; 15643295; 11242116
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 MEFV Eleanor Williams Source Other was added to MEFV.
Publications for gene MEFV were updated from 14679589; 10787449; 11903360; 11242116; 10090880; 9668175; 9288094 to 9288094; 9668175; 14679589; 10090880; 9266193; 10787449; 11903360; 15643295; 11242116
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 MALT1 Eleanor Williams Source Other was added to MALT1.
Publications for gene MALT1 were updated from 23727036; 24332264; 25627829 to 25627829; 23727036; 24332264
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 MAGT1 Eleanor Williams Source Other was added to MAGT1.
Publications for gene MAGT1 were updated from 21796205; 23846901; 27095930; 25956530; 25504528; 25205404; 24550228; 23871722; 21983175 to 25205404; 27095930; 25956530; 23846901; 21796205; 25504528; 29635109; 23871722; 21983175; 24550228
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 LYST Eleanor Williams Source Other was added to LYST.
Publications for gene LYST were updated from 8896560; 9215679; 9215680; 10482950 to 9215679; 18043242; 8717042; 9215680; 10482950; 8896560; 26944273; 29939658
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 LRBA Eleanor Williams Source Other was added to LRBA.
Publications for gene LRBA were updated from 22608502; 25468195; 22721650 to 26768763; 25468195; 25931386; 22608502; 22721650; 26707784
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 LPIN2 Eleanor Williams Source Other was added to LPIN2.
Publications for gene LPIN2 were updated from 29387759; 15994876; 17330256; 27860302 to 2809904; 27252506; 29387759; 10969284; 17330256; 15994876; 27860302
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 LCK Eleanor Williams Source Other was added to LCK.
Publications for gene LCK were updated from 22985903; 9664084; 11351273 to 22985903; 11351273; 9664084
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 IL36RN Eleanor Williams Source Other was added to IL36RN.
Publications for gene IL36RN were updated from 23303454; 23698098; 22903787 to 23303454; 21848462; 23698098; 22903787; 21839423
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 IL2RA Eleanor Williams Source Other was added to IL2RA.
Publications for gene IL2RA were updated from 9096364; 17196245; 23416241; 24116927 to 9096364; 24116927; 17196245; 23416241
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 IL21R Eleanor Williams Source Other was added to IL21R.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 IL1RN Eleanor Williams Source Other was added to IL1RN.
Publications for gene IL1RN were updated from 19494218; 19494219 to 19494219; 22127713; 19494218
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 IL10RB Eleanor Williams Source Other was added to IL10RB.
Publications for gene IL10RB were updated from 19890111; 21519361; 28785144; 27350736; 27302973 to 22236434; 27350736; 27302973; 19890111; 21519361; 28785144
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 IL10RA Eleanor Williams Source Other was added to IL10RA.
Publications for gene IL10RA were updated from 19890111; 21519361; 22476154; 29788474; 29248579; 29140941; 28864178; 29059189 to 22476154; 29248579; 19890111; 21519361; 29059189; 29140941; 28864178; 22236434; 29788474
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 FOXP3 Eleanor Williams Source Other was added to FOXP3.
Publications for gene FOXP3 were updated from 17635943; 16741580; 14671208; 11120765; 11295725 to 11295725; 29241729; 30443250; 17635943; 18951619; 11120765; 16741580; 14671208
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 FASLG Eleanor Williams Source Other was added to FASLG.
Publications for gene FASLG were updated from 17605793; 20301287; 8787672; 17605793; 27848183 to 8806292; 16537120; 16394653; 8787672; 20301287; 17605793; 26907631; 27848183; 25451160; 22857792; 7511063; 22983577
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 FAS Eleanor Williams Source Other was added to FAS.
Publications for gene FAS were updated from 7540117; 9028321; 9821419; 9927496; 10709732; 15459302; 8929361; 28668589; 26258116 to 26258116; 10709732; 15459302; 28668589; 8806292; 16537120; 16394653; 7540117; 26907631; 9927496; 9028321; 8929361; 9821419; 25451160; 22857792; 7511063; 22983577
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 DOCK8 Eleanor Williams Source Other was added to DOCK8.
Publications for gene DOCK8 were updated from 19776401; 20004785; 25627830; 25724123 to 25724123; 20004785; 25627830; 19776401
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 CTLA4 Eleanor Williams Source Other was added to CTLA4.
Publications for gene CTLA4 were updated from 25213377; 25329329 to 25213377; 25329329; 29729943
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 COPA Eleanor Williams Source Other was added to COPA.
Publications for gene COPA were updated from 25894502; 28956095; 25894502; 29137621 to 28956095; 25894502; 29137621
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 CARD14 Eleanor Williams Source Other was added to CARD14.
Publications for gene CARD14 were updated from 23648549; 22521418; 22703878; 23067081; 29704870; 29689250; 23711932; 30248356; 29980436 to 22521418; 30248356; 23648549; 29689250; 22703878; 29980436; 23067081; 29704870; 23711932
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 CARD11 Eleanor Williams Source Other was added to CARD11.
Publications for gene CARD11 were updated from 25352053; 23374270; 29074947; 23561803; 23129749; 30170123; 28628108; 28826773 to 29074947; 30170123; 28628108; 23129749; 25352053; 23374270; 23561803; 26289640; 28826773
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 BCL10 Eleanor Williams Source Other was added to BCL10.
Publications for gene BCL10 were updated from 32048120; 25365219; 32086639 to 32086639; 25365219; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 AIRE Eleanor Williams Source Other was added to AIRE.
Publications for gene AIRE were updated from 28911151; 29437776; 29108822; 9398839; 9837820; 9888391; 10677297; 11836330; 19758376; 11600535; 19807739 to 19758376; 29949487; 29108822; 28257655; 19807739; 10677297; 9398839; 11600535; 29483906; 9888391; 28911151; 9735375; 11836330; 29437776; 9837820; 30565240
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 ADAM17 Eleanor Williams Source Other was added to ADAM17.
Publications for gene ADAM17 were updated from 22010916; 28930861; 20603312; 32048120; 25171914; 11149563; 25058236; 32086639; 29560122; 26683521; 25804906 to 29560122; 22010916; 25058236; 32048120; 20603312; 32086639; 26683521; 11149563; 25804906; 25171914; 28930861
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 ADA2 Eleanor Williams Source Other was added to ADA2.
Publications for gene ADA2 were updated from 24552284; 24552285; 26922074; 29564582 to 24552284; 24552285; 29564582; 27059682; 26922074; 27444081
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 ACP5 Eleanor Williams Source Other was added to ACP5.
Publications for gene ACP5 were updated from 26789720; 26951490; 26346816; 18924170; 21217755; 26789720; 21217752 to 21217755; 26789720; 21217752; 18924170; 26951490; 26346816
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 TNFRSF4 Eleanor Williams Source Other was added to TNFRSF4.
Publications for gene TNFRSF4 were updated from 32048120; 32086639 to 32086639; 23897980; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 SEMA3E Eleanor Williams Source Other was added to SEMA3E.
Publications for gene SEMA3E were updated from 12144540; 1735828; 32048120; 21055784; 32086639 to 12144540; 1735828; 11241468; 32048120; 21055784; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 RNU4ATAC Eleanor Williams Source Other was added to RNU4ATAC.
Publications for gene RNU4ATAC were updated from 32048120; 32086639 to 26522830; 32086639; 21474760; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 RELB Eleanor Williams Source Other was added to RELB.
Publications for gene RELB were updated from 32048120; 26385063; 32086639 to 26385063; 32086639; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 NFAT5 Eleanor Williams Source Other was added to NFAT5.
Publications for gene NFAT5 were updated from 32048120; 32086639 to 32086639; 25667416; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 KMT2D Eleanor Williams Source Other was added to KMT2D.
Publications for gene KMT2D were updated from 25142838; 32048120; 15887282; 15523604; 26411453; 32086639 to 25142838; 15523604; 21671394; 32048120; 15887282; 21607748; 32086639; 23913813; 26411453
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 KDM6A Eleanor Williams Source Other was added to KDM6A.
Publications for gene KDM6A were updated from 25546742; 25142838; 32048120; 15887282; 15523604; 26411453; 32086639 to 25142838; 15523604; 32048120; 25546742; 15887282; 32086639; 26411453; 22197486; 23076834
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 JAK1 Eleanor Williams Source Other was added to JAK1.
Publications for gene JAK1 were updated from 32048120; 28111307; 32086639 to 32086639; 28111307; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 FAAP24 Eleanor Williams Source Other was added to FAAP24.
Publications for gene FAAP24 were updated from 32048120; 27473539; 32086639 to 32086639; 17289582; 27473539; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 AP3D1 Eleanor Williams Source Other was added to AP3D1.
Publications for gene AP3D1 were updated from 32048120; 26744459; 32086639 to 32086639; 26744459; 30472485; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 TAPBP Eleanor Williams Source Other was added to TAPBP.
Publications for gene TAPBP were updated from 32048120; 12149238; 32086639 to 32086639; 12149238; 32048120
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 RNF31 Eleanor Williams Source Other was added to RNF31.
Publications for gene RNF31 were updated from 32048120; 26008899; 32086639; 30936877 to 30936877; 32086639; 26008899; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 RHOH Eleanor Williams Source Other was added to RHOH.
Publications for gene RHOH were updated from 32048120; 22850876; 24189071; 32086639 to 32086639; 24189071; 22850876; 32048120
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 CD8A Eleanor Williams Source Other was added to CD8A.
Publications for gene CD8A were updated from 32048120; 17658607; 11435463; 32086639 to 32048120; 32086639; 26563160; 17658607; 11435463
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 BCL11B Eleanor Williams Source Other was added to BCL11B.
Publications for gene BCL11B were updated from 32048120; 27959755; 29296816; 32086639 to 27959755; 32086639; 29296816; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 ZAP70 Eleanor Williams Publications for gene ZAP70 were updated from 8202713; 19548248; 18509675; 26783323; 25732729; 25805655 to 1333922; 8202713; 19548248; 21094993; 18509675; 26783323; 2511270; 25732729; 8124727; 25805655
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 ZAP70 Eleanor Williams Source Other was added to ZAP70.
Publications for gene ZAP70 were updated from to 8202713; 19548248; 18509675; 26783323; 25732729; 25805655
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 TTC7A Eleanor Williams Source Other was added to TTC7A.
Publications for gene TTC7A were updated from 24292712; 23423984; 23830146; 24417819; 24417819 to 23423984; 23830146; 24292712; 24417819
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 TPP2 Eleanor Williams Source Other was added to TPP2.
Publications for gene TPP2 were updated from 25414442; 25525876 to 25414442; 25525876
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 TCN2 Eleanor Williams Source Other was added to TCN2.
Publications for gene TCN2 were updated from 24305960; 7980584; 7849710; 20352340; 18956254 to 18956254; 20352340; 7849710; 7980584; 12107818; 19373259; 24305960
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 TAP2 Eleanor Williams Source Other was added to TAP2.
Publications for gene TAP2 were updated from 7517574; 10560675; 11529920; 20083708 to 11529920; 7517574; 10560675; 20083708
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 TAP1 Eleanor Williams Source Other was added to TAP1.
Publications for gene TAP1 were updated from to 11529920; 7517574; 10560675; 20083708; 10074494
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 STIM1 Eleanor Williams Source Other was added to STIM1.
Publications for gene STIM1 were updated from 19420366; 20876309; 22190180; 24621671; 26560041 to 26560041; 20876309; 22190180; 19420366; 24621671; 24570283
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 STAT5B Eleanor Williams Source Other was added to STAT5B.
Publications for gene STAT5B were updated from 13679528; 16920911; 15827093; 16787985; 17030597; 17389811; 20538865; 26703237; 29844444 to 29844444; 26703237; 17030597; 16920911; 15827093; 16787985; 17389811; 13679528; 20538865
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 SP110 Eleanor Williams Source Other was added to SP110.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 SMARCAL1 Eleanor Williams Source Other was added to SMARCAL1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 SLC46A1 Eleanor Williams Source Other was added to SLC46A1.
Publications for gene SLC46A1 were updated from 17129779; 17446347; 27664775 to 17129779; 27664775; 17446347
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 RMRP Eleanor Williams Source Other was added to RMRP.
Publications for gene RMRP were updated from 25663137; 26830278; 26279652; 24217815; 3582365; 2328993 to 25663137; 3582365; 14569125; 12107819; 11207361; 26830278; 24217815; 26279652; 2328993
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 RFXAP Eleanor Williams Source Other was added to RFXAP.
Publications for gene RFXAP were updated from 9118943; 9287230; 22390233; 20197681; 18336911; 12498778; 9806639 to 22390233; 9118943; 9806639; 9806639; 9287230; 18336911; 20197681; 12498778
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 RFXANK Eleanor Williams Source Other was added to RFXANK.
Publications for gene RFXANK were updated from 11313409; 12618906; 22863278; 20414676; 9806546 to 20414676; 9806546; 12618906; 22863278; 11313409
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 RFX5 Eleanor Williams Source Other was added to RFX5.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 RBCK1 Eleanor Williams Source Other was added to RBCK1.
Publications for gene RBCK1 were updated from 23104095; 29260357 to 23798481; 610924; 29260357; 23104095
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 RASGRP1 Eleanor Williams Source Other was added to RASGRP1.
Publications for gene RASGRP1 were updated from 30030704; 29282224; 29155103; 28822832; 27776107 to 29155103; 28822832; 29282224; 27776107; 30030704
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 RAG2 Eleanor Williams Source Other was added to RAG2.
Publications for gene RAG2 were updated from to 16960852; 30046960
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 RAG1 Eleanor Williams Source Other was added to RAG1.
Publications for gene RAG1 were updated from to 16960852; 8810255; 30046960
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 RAB27A Eleanor Williams Source Other was added to RAB27A.
Publications for gene RAB27A were updated from 12058346; 12531900; 12522785; 15163896; 15163896 to 12531900; 9486701; 12058346; 10835631; 24134793; 12522785; 15163896; 16517541
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 PTPRC Eleanor Williams Source Other was added to PTPRC.
Publications for gene PTPRC were updated from 10700239; 11145714; 22689986 to 11145714; 10700239; 22689986
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 PSMB8 Eleanor Williams Source Other was added to PSMB8.
Publications for gene PSMB8 were updated from 21129723; 21953331; 21881205; 21852578; 21953331 to 21881205; 20159315; 21953331; 21129723; 20534754; 21852578
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 PRKCD Eleanor Williams Publications for gene PRKCD were updated from 23319571; 27541826; 23666743; 23430113 to 19075392; 23430113; 25842288; 23722905; 23319571; 27541826; 23666743
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 PRKCD Eleanor Williams Source Other was added to PRKCD.
Publications for gene PRKCD were updated from 23319571; 23666743; 23430113 to 23319571; 27541826; 23666743; 23430113
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 PNP Eleanor Williams Source Other was added to PNP.
Publications for gene PNP were updated from to 1384322; 3029074
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 PEPD Eleanor Williams Source Other was added to PEPD.
Publications for gene PEPD were updated from 2365824; 1972707; 6637477; 2365824; 16470701; 8900231; 15309682; 17142620; 19308961 to 8900231; 2365824; 17142620; 26110198; 15309682; 6637477; 16470701; 19308961; 22726576; 1972707
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 ORAI1 Eleanor Williams Source Other was added to ORAI1.
Publications for gene ORAI1 were updated from 16582901; 20004786 to 7798233; 16582901; 8814256; 20004786
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 NHEJ1 Eleanor Williams Source Other was added to NHEJ1.
Publications for gene NHEJ1 were updated from to 16439204; 20113890
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 NFKBIA Eleanor Williams Source Other was added to NFKBIA.
Publications for gene NFKBIA were updated from 14523047; 15337789; 17931563; 18412279 to 15337789; 23708964; 18412279; 17931563; 28597146; 28417298; 14523047
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 MYSM1 Eleanor Williams Source Other was added to MYSM1.
Publications for gene MYSM1 were updated from 24288411; 26220525; 28115216; 28446309; 22184403; 26474655 to 26474655; 26220525; 24288411; 28446309; 28115216; 22184403
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 MTHFD1 Eleanor Williams Source Other was added to MTHFD1.
Publications for gene MTHFD1 were updated from 27707659; 25633902 to 27707659; 25633902; 21813566; 9611072; 12384833
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 MAP3K14 Eleanor Williams Source Other was added to MAP3K14.
Publications for gene MAP3K14 were updated from 29230214; 25406581; 29259025 to 29230214; 25406581; 29259025
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 LIG4 Eleanor Williams Source Other was added to LIG4.
Publications for gene LIG4 were updated from to 20113890; 16357942
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 LAT Eleanor Williams Source Other was added to LAT.
Publications for gene LAT were updated from 27522155; 27242165 to 27522155; 27242165
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 JAK3 Eleanor Williams Source Other was added to JAK3.
Publications for gene JAK3 were updated from to 7481768; 7659163
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 ITK Eleanor Williams Source Other was added to ITK.
Publications for gene ITK were updated from 19425169; 22289921; 21109689 to 29867957; 22289921; 21109689; 19425169
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 ITCH Eleanor Williams Source Other was added to ITCH.
Publications for gene ITCH were updated from 20170897; 26854353; 19592251; 20962770; 27322655 to 30705142; 20962770; 26854353; 20170897; 19592251; 27322655
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 IL7R Eleanor Williams Source Other was added to IL7R.
Publications for gene IL7R were updated from to 9843216
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 IL2RG Eleanor Williams Source Other was added to IL2RG.
Publications for gene IL2RG were updated from to 8712778; 9921912; 8462096; 7668284
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 IL10 Eleanor Williams Source Other was added to IL10.
Publications for gene IL10 were updated from 19890111; 20951137 to 19890111; 20951137; 22236434
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 IKBKG Eleanor Williams Source Other was added to IKBKG.
Publications for gene IKBKG were updated from 11047757 to 16818673; 11179023; 16950813; 15356572; 11047757
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 IKBKB Eleanor Williams Source Other was added to IKBKB.
Publications for gene IKBKB were updated from 25216719; 24369075; 30337470 to 30337470; 25216719; 24369075
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 ICOS Eleanor Williams Source Other was added to ICOS.
Publications for gene ICOS were updated from 29867948; 28861081; 12577056; 15507387; 19380800; 25678089; 26399252; 10413651; 29867948; 25678089; 24795713; 29226302; 29226301 to 10413651; 26399252; 25678089; 29226301; 19380800; 28861081; 15507387; 24795713; 12577056; 29226302; 29867948
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 FOXN1 Eleanor Williams Source Other was added to FOXN1.
Publications for gene FOXN1 were updated from 28636882; 15180707; 21507891; 11159512; 31447097; 10206641; 28077132; 29593714 to 11159512; 29593714; 21507891; 10206641; 28636882; 15180707; 28077132; 31447097
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 FAT4 Eleanor Williams Source Other was added to FAT4.
Publications for gene FAT4 were updated from 24913602; 25616299; 29681106 to 29681106; 22473091; 22469822; 25616299; 24056717; 24913602
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 FADD Eleanor Williams Source Other was added to FADD.
Publications for gene FADD were updated from 21109225; 17656375; 25794656 to 18070632; 17656375; 25794656; 21109225
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 EXTL3 Eleanor Williams Source Other was added to EXTL3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 EPG5 Eleanor Williams Source Other was added to EPG5.
Publications for gene EPG5 were updated from 23222957; 25331754; 26917586; 26395118; 23838600; 23674064; 28624465 to 23674064; 28624465; 26917586; 28168853; 26395118; 23222957; 23838600; 25331754
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 DOCK2 Eleanor Williams Source Other was added to DOCK2.
Publications for gene DOCK2 were updated from 26083206; 28694805; 29503648 to 26083206; 29503648; 29204803; 28694805
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 DCLRE1C Eleanor Williams Source Other was added to DCLRE1C.
Publications for gene DCLRE1C were updated from to 32092471; 11336668; 12569164; 10416610; 26476407; 24144642; 31393046; 12406895; 12055248; 16540517; 15731174
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 CTPS1 Eleanor Williams Source Other was added to CTPS1.
Publications for gene CTPS1 were updated from 24870241; 26424649; 27638562; 17576681; 9536098 to 26424649; 17576681; 27638562; 9536098; 29884857; 24870241
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 CORO1A Eleanor Williams Source Other was added to CORO1A.
Publications for gene CORO1A were updated from 23522482; 18836449; 19097825 to 23522482; 19097825; 18836449; 25073507
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 CIITA Eleanor Williams Source Other was added to CIITA.
Publications for gene CIITA were updated from 8402893; 9099848; 11862382 to 8402893; 11862382; 9099848
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 CD70 Eleanor Williams Source Other was added to CD70.
Publications for gene CD70 were updated from 28011863; 28011864; 29434583 to 28011864; 28011863; 29434583
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 CD40LG Eleanor Williams Source Other was added to CD40LG.
Publications for gene CD40LG were updated from 7679801; 7678782; 7679206; 8094231; 7586644; 17146684; 7882172; 11875495; 20301576 to 11875495; 7678782; 7679801; 27189378; 8094231; 20301576; 27697500; 19931163; 17146684; 7882172; 25840720; 7586644; 7679206
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 CD40 Eleanor Williams Source Other was added to CD40.
Publications for gene CD40 were updated from 11675497; 12584544; 20301287; 17502893 to 11675497; 20301287; 12584544; 24122029; 17502893
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 CD3G Eleanor Williams Source Other was added to CD3G.
Publications for gene CD3G were updated from 1635567; 17277165 to 29653965; 17277165; 1635567; 24910257
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 CD3E Eleanor Williams Source Other was added to CD3E.
Publications for gene CD3E were updated from to 15546002; 8490660
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 CD3D Eleanor Williams Source Other was added to CD3D.
Publications for gene CD3D were updated from to 14602880; 21926461; 15546002
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 CD27 Eleanor Williams Source Other was added to CD27.
Publications for gene CD27 were updated from 22197273; 22801960; 25843314 to 25843314; 22801960; 22197273
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 CD247 Eleanor Williams Source Other was added to CD247.
Publications for gene CD247 were updated from 16672702; 26690594; 17170122; 27555457; 25688246; https://doi.org/10.14785/lpsn-2014-0012; 26542031 to 26690594; 26542031; 17170122; 27555457; 25688246; 16672702; https://doi.org/10.14785/lpsn-2014-0012
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 CCBE1 Eleanor Williams Source Other was added to CCBE1.
Publications for gene CCBE1 were updated from 19935664; 19911200; 24913602 to 19911200; 24913602; 19935664
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 CASP8 Eleanor Williams Source Other was added to CASP8.
Publications for gene CASP8 were updated from 12353035; 16157684; 24240292; 20301287 to 12353035; 20301287; 16157684; 24240292; 15492869
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 CASP10 Eleanor Williams Source Other was added to CASP10.
Publications for gene CASP10 were updated from 25663566; 21447005; 10412980; 16446975; 9028957; 16611303 to 25663566; 16446975; 16611303; 10412980; 21447005; 27378136; 9028957
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 CARMIL2 Eleanor Williams Source Other was added to CARMIL2.
Publications for gene CARMIL2 were updated from 27896283; 27647349; 28112205 to 27647349; 27896283; 28112205; 29479355
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 BACH2 Eleanor Williams Source Other was added to BACH2.
Publications for gene BACH2 were updated from 27807919; 27680876; 28530713 to 27680876; 28530713; 27807919; 30527062
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 B2M Eleanor Williams Source Other was added to B2M.
Publications for gene B2M were updated from 4186801; 25702838 to 25702838; 4186801
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 AP3B1 Eleanor Williams Source Other was added to AP3B1.
Publications for gene AP3B1 were updated from 10024875; 14566336; 8042664; 11809908; 16537806; 19679886; 23403622; 16507770; 28585318 to 19679886; 11809908; 10024875; 16551969; 16537806; 16507770; 28585318; 30974211; 23403622; 8042664; 14566336
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 AK2 Eleanor Williams Source Other was added to AK2.
Publications for gene AK2 were updated from 19043416; 19043417 to 19043416; 19043417
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 ADA Eleanor Williams Source Other was added to ADA.
Publications for gene ADA were updated from to 3475710; 6134754; 8227344; 2567118; 6200875; 2166947
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 ZAP70 Eleanor Williams edited their review of gene: ZAP70: Added comment: The following PubMed IDs were added to gene ZAP70 (OMIM gene MIM#176947): 19548248;18509675;8202713;26783323;25805655;25732729. These publications have been associated with the gene by the immunedysregulation subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.; Changed publications: 19548248, 18509675, 8202713, 26783323, 25805655, 25732729
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 XIAP Eleanor Williams edited their review of gene: XIAP: Added comment: The following PubMed IDs were added to entity XIAP: 31754776;23973892;21119115;26581487;23131490. These publications have been associated with OMIM phenotype MIM#300635, which is listed for this entity, by the immunedysregulation subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.; Changed publications: 31754776, 23973892, 21119115, 26581487, 23131490
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 UNC13D Eleanor Williams reviewed gene: UNC13D: Rating: ; Mode of pathogenicity: ; Publications: 27914778, 14622600, 17993578, 29312353; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 TTC7A Eleanor Williams reviewed gene: TTC7A: Rating: ; Mode of pathogenicity: ; Publications: 24292712, 23423984, 23830146; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 TREX1 Eleanor Williams reviewed gene: TREX1: Rating: ; Mode of pathogenicity: ; Publications: 25604658, 17846997; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 TRAC Eleanor Williams reviewed gene: TRAC: Rating: ; Mode of pathogenicity: ; Publications: 21206088, 3464003; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 TPP2 Eleanor Williams reviewed gene: TPP2: Rating: ; Mode of pathogenicity: ; Publications: 25414442; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 TNFRSF4 Eleanor Williams reviewed gene: TNFRSF4: Rating: ; Mode of pathogenicity: ; Publications: 23897980; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 TNFRSF1A Eleanor Williams reviewed gene: TNFRSF1A: Rating: ; Mode of pathogenicity: ; Publications: 11115159, 23965844, 12209523; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 TNFAIP3 Eleanor Williams reviewed gene: TNFAIP3: Rating: ; Mode of pathogenicity: ; Publications: 27845235, 31164164; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 TMEM173 Eleanor Williams edited their review of gene: TMEM173: Added comment: The following PubMed IDs were added to entity TMEM173: 25029335;25401470. These publications have been associated with OMIM phenotype MIM#615934, which is listed for this entity, by the autoinflammation subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.; Changed publications: 25029335, 25401470
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 TFRC Eleanor Williams reviewed gene: TFRC: Rating: ; Mode of pathogenicity: ; Publications: 26642240; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 TCN2 Eleanor Williams reviewed gene: TCN2: Rating: ; Mode of pathogenicity: ; Publications: 7849710, 19373259, 12107818; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 TBX1 Eleanor Williams edited their review of gene: TBX1: Added comment: The following PubMed IDs were added to entity TBX1: 12548732. These publications have been associated with OMIM phenotype MIM#188400, which is listed for this entity, by the immunodeficiencies subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.; Changed publications: 12548732
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 TAPBP Eleanor Williams commented on gene: TAPBP: The following PubMed IDs were added to gene TAPBP (OMIM gene MIM#601962): 12149238. These publications have been associated with the gene by the immunodeficiencies subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 TAP2 Eleanor Williams edited their review of gene: TAP2: Added comment: The following PubMed IDs were added to gene TAP2 (OMIM gene MIM#170261): 20083708;7517574;10560675;11529920. These publications have been associated with the gene by the immunodeficiencies subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.; Changed publications: 20083708, 7517574, 10560675, 11529920
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 TAP1 Eleanor Williams edited their review of gene: TAP1: Added comment: The following PubMed IDs were added to gene TAP1 (OMIM gene MIM#170260): 20083708;7517574;10560675;10074494;11529920. These publications have been associated with the gene by the immunodeficiencies subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.; Changed publications: 20083708, 7517574, 10560675, 10074494, 11529920
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 STXBP2 Eleanor Williams reviewed gene: STXBP2: Rating: ; Mode of pathogenicity: ; Publications: 19804848, 30557712, 22451424, 19884660, 29776323; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 STX11 Eleanor Williams reviewed gene: STX11: Rating: ; Mode of pathogenicity: ; Publications: 16582076, 18710388, 15703195; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 STK4 Eleanor Williams reviewed gene: STK4: Rating: ; Mode of pathogenicity: ; Publications: 22174160, 26801501, 26117625, 22294732; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 STIM1 Eleanor Williams edited their review of gene: STIM1: Added comment: The following PubMed IDs were added to gene STIM1 (OMIM gene MIM#605921): 24570283;22190180;20876309;19420366. These publications have been associated with the gene by the immunodeficiencies subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.; Changed publications: 24570283, 22190180, 20876309, 19420366
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 STAT5B Eleanor Williams edited their review of gene: STAT5B: Added comment: The following PubMed IDs were added to gene STAT5B (OMIM gene MIM#604260): 13679528;16920911. These publications have been associated with the gene by the immunodeficiencies subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.; Changed publications: 13679528, 16920911
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 STAT3 Eleanor Williams edited their review of gene: STAT3: Added comment: The following PubMed IDs were added to entity STAT3: 25349174;28402852;25359994;25038750. These publications have been associated with OMIM phenotype MIM#615952, which is listed for this entity, by the immunedysregulation subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.; Changed publications: 25349174, 28402852, 25359994, 25038750
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 SP110 Eleanor Williams edited their review of gene: SP110: Added comment: The following PubMed IDs were added to gene SP110 (OMIM gene MIM#604457): 16648851. These publications have been associated with the gene by the immunodeficiencies subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.; Changed publications: 16648851
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 SMARCAL1 Eleanor Williams edited their review of gene: SMARCAL1: Added comment: The following PubMed IDs were added to gene SMARCAL1 (OMIM gene MIM#606622): 17089404;11799392. These publications have been associated with the gene by the immunodeficiencies subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.; Changed publications: 17089404, 11799392
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 SLC46A1 Eleanor Williams edited their review of gene: SLC46A1: Added comment: The following PubMed IDs were added to gene SLC46A1 (OMIM gene MIM#611672): 17446347;17129779. These publications have been associated with the gene by the immunodeficiencies subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.; Changed publications: 17446347, 17129779
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 SLC29A3 Eleanor Williams edited their review of gene: SLC29A3: Added comment: The following PubMed IDs were added to entity SLC29A3: 20619369;20140240. These publications have been associated with OMIM phenotype MIM#602782, which is listed for this entity, by the autoinflammation subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.; Changed publications: 20619369, 20140240
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 SH3BP2 Eleanor Williams reviewed gene: SH3BP2: Rating: ; Mode of pathogenicity: ; Publications: 11113824, 16053841; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 SH2D1A Eleanor Williams edited their review of gene: SH2D1A: Added comment: The following PubMed IDs were added to entity SH2D1A: 31754776;21119115;25085526. These publications have been associated with OMIM phenotype MIM#308240, which is listed for this entity, by the immunedysregulation subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.; Changed publications: 31754776, 21119115, 25085526
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 SEMA3E Eleanor Williams edited their review of gene: SEMA3E: Added comment: The following PubMed IDs were added to gene SEMA3E (OMIM gene MIM#608166): 11241468. These publications have been associated with the gene by the immunodeficiencies subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.; Changed publications: 11241468
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 RNU4ATAC Eleanor Williams reviewed gene: RNU4ATAC: Rating: ; Mode of pathogenicity: ; Publications: 21474760, 26522830; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 RNF31 Eleanor Williams reviewed gene: RNF31: Rating: ; Mode of pathogenicity: ; Publications: 26008899; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 RMRP Eleanor Williams reviewed gene: RMRP: Rating: ; Mode of pathogenicity: ; Publications: 14569125, 11207361, 12107819; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 RHOH Eleanor Williams reviewed gene: RHOH: Rating: ; Mode of pathogenicity: ; Publications: 22850876, 24189071; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 RFXAP Eleanor Williams reviewed gene: RFXAP: Rating: ; Mode of pathogenicity: ; Publications: 20197681, 9287230, 9806639, 18336911, 12498778, 22390233, 9118943; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 RFXANK Eleanor Williams reviewed gene: RFXANK: Rating: ; Mode of pathogenicity: ; Publications: 11313409, 12618906, 9806546, 20414676, 22863278; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 RFX5 Eleanor Williams reviewed gene: RFX5: Rating: ; Mode of pathogenicity: ; Publications: 7744245, 9401005; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 RELB Eleanor Williams reviewed gene: RELB: Rating: ; Mode of pathogenicity: ; Publications: 26385063; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 RBCK1 Eleanor Williams reviewed gene: RBCK1: Rating: ; Mode of pathogenicity: ; Publications: 23798481, 610924; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 RASGRP1 Eleanor Williams reviewed gene: RASGRP1: Rating: ; Mode of pathogenicity: ; Publications: 29155103, 30030704, 27776107; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 RAG2 Eleanor Williams reviewed gene: RAG2: Rating: ; Mode of pathogenicity: ; Publications: 30046960, 16960852; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 RAG1 Eleanor Williams reviewed gene: RAG1: Rating: ; Mode of pathogenicity: ; Publications: 30046960, 16960852, 8810255; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 RAB27A Eleanor Williams reviewed gene: RAB27A: Rating: ; Mode of pathogenicity: ; Publications: 24134793, 10835631, 16517541, 9486701; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 PTPRC Eleanor Williams reviewed gene: PTPRC: Rating: ; Mode of pathogenicity: ; Publications: 22689986, 11145714, 10700239; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 PSTPIP1 Eleanor Williams reviewed gene: PSTPIP1: Rating: ; Mode of pathogenicity: ; Publications: 9212761, 22161697, 21532836; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 PSMB8 Eleanor Williams reviewed gene: PSMB8: Rating: ; Mode of pathogenicity: ; Publications: 20159315, 20534754; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 PRKCD Eleanor Williams edited their review of gene: PRKCD: Added comment: The following PubMed IDs were added to gene PRKCD (OMIM gene MIM#176977): 27541826;23666743;23319571. These publications have been associated with the gene by the immunedysregulation subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.; Changed publications: 27541826, 23666743, 23319571
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 PRF1 Eleanor Williams reviewed gene: PRF1: Rating: ; Mode of pathogenicity: ; Publications: 10583959, 22248322, 28468610, 28806468; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 POLA1 Eleanor Williams edited their review of gene: POLA1: Added comment: The following PubMed IDs were added to entity POLA1: 15804299;6794369. These publications have been associated with OMIM phenotype MIM#301220, which is listed for this entity, by the autoinflammation subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.; Changed publications: 15804299, 6794369
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 PNP Eleanor Williams reviewed gene: PNP: Rating: ; Mode of pathogenicity: ; Publications: 3029074, 1384322; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 PLCG2 Eleanor Williams reviewed gene: PLCG2: Rating: ; Mode of pathogenicity: ; Publications: 23000145, 22236196, 25760457; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 PEPD Eleanor Williams reviewed gene: PEPD: Rating: ; Mode of pathogenicity: ; Publications: 26110198, 22726576; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 OTULIN Eleanor Williams reviewed gene: OTULIN: Rating: ; Mode of pathogenicity: ; Publications: 27559085; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 ORAI1 Eleanor Williams reviewed gene: ORAI1: Rating: ; Mode of pathogenicity: ; Publications: 8814256, 7798233, 16582901; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 NOD2 Eleanor Williams reviewed gene: NOD2: Rating: ; Mode of pathogenicity: ; Publications: 25416713, 28887115, 19479837, 25136265; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 NLRP3 Eleanor Williams edited their review of gene: NLRP3: Added comment: The following PubMed IDs were added to entity NLRP3: 12032915. These publications have been associated with OMIM phenotype MIM#607115, which is listed for this entity, by the autoinflammation subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.; Changed publications: 12032915
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 NLRP12 Eleanor Williams reviewed gene: NLRP12: Rating: ; Mode of pathogenicity: ; Publications: 18230725, 27633793, 21360512; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 NLRP1 Eleanor Williams reviewed gene: NLRP1: Rating: ; Mode of pathogenicity: ; Publications: 27965258; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 NLRC4 Eleanor Williams edited their review of gene: NLRC4: Added comment: The following PubMed IDs were added to entity NLRC4: 25385754. These publications have been associated with OMIM phenotype MIM#616115, which is listed for this entity, by the autoinflammation subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.; Changed publications: 25385754
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 NHEJ1 Eleanor Williams reviewed gene: NHEJ1: Rating: ; Mode of pathogenicity: ; Publications: 20113890, 16439204; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 NFKBIA Eleanor Williams reviewed gene: NFKBIA: Rating: ; Mode of pathogenicity: ; Publications: 23708964, 28597146, 14523047, 28417298; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 NFAT5 Eleanor Williams reviewed gene: NFAT5: Rating: ; Mode of pathogenicity: ; Publications: 25667416; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 MYSM1 Eleanor Williams reviewed gene: MYSM1: Rating: ; Mode of pathogenicity: ; Publications: 24288411, 28115216, 22184403; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 MVK Eleanor Williams reviewed gene: MVK: Rating: ; Mode of pathogenicity: ; Publications: 22038276, 21708801, 19011501; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 MTHFD1 Eleanor Williams reviewed gene: MTHFD1: Rating: ; Mode of pathogenicity: ; Publications: 21813566, 9611072, 12384833; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 MSN Eleanor Williams reviewed gene: MSN: Rating: ; Mode of pathogenicity: ; Publications: 27405666, 29556235; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 MEFV Eleanor Williams commented on gene: MEFV: The following PubMed IDs were added to entity MEFV: 9266193;15643295. These publications have been associated with OMIM phenotype MIM#134610, which is listed for this entity, by the autoinflammation subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 MAP3K14 Eleanor Williams reviewed gene: MAP3K14: Rating: ; Mode of pathogenicity: ; Publications: 29230214, 29259025, 25406581; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 MALT1 Eleanor Williams reviewed gene: MALT1: Rating: ; Mode of pathogenicity: ; Publications: 24332264, 25627829, 23727036; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 MAGT1 Eleanor Williams reviewed gene: MAGT1: Rating: ; Mode of pathogenicity: ; Publications: 21796205, 29635109; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 LYST Eleanor Williams reviewed gene: LYST: Rating: ; Mode of pathogenicity: ; Publications: 26944273, 18043242, 29939658, 8717042; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 LRBA Eleanor Williams reviewed gene: LRBA: Rating: ; Mode of pathogenicity: ; Publications: 25931386, 26707784, 22608502, 26768763; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 LPIN2 Eleanor Williams reviewed gene: LPIN2: Rating: ; Mode of pathogenicity: ; Publications: 27252506, 2809904, 10969284; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 LIG4 Eleanor Williams reviewed gene: LIG4: Rating: ; Mode of pathogenicity: ; Publications: 16357942, 20113890; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 LCK Eleanor Williams reviewed gene: LCK: Rating: ; Mode of pathogenicity: ; Publications: 22985903, 11351273, 9664084; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 LAT Eleanor Williams reviewed gene: LAT: Rating: ; Mode of pathogenicity: ; Publications: 27522155; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 KMT2D Eleanor Williams reviewed gene: KMT2D: Rating: ; Mode of pathogenicity: ; Publications: 23913813, 21671394, 21607748; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 KDM6A Eleanor Williams reviewed gene: KDM6A: Rating: ; Mode of pathogenicity: ; Publications: 23076834, 22197486; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 JAK3 Eleanor Williams reviewed gene: JAK3: Rating: ; Mode of pathogenicity: ; Publications: 7659163, 7481768; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 JAK1 Eleanor Williams reviewed gene: JAK1: Rating: ; Mode of pathogenicity: ; Publications: 28111307; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 ITK Eleanor Williams reviewed gene: ITK: Rating: ; Mode of pathogenicity: ; Publications: 29867957; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 ITCH Eleanor Williams reviewed gene: ITCH: Rating: ; Mode of pathogenicity: ; Publications: 30705142, 20170897; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 IL7R Eleanor Williams reviewed gene: IL7R: Rating: ; Mode of pathogenicity: ; Publications: 9843216; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 IL36RN Eleanor Williams reviewed gene: IL36RN: Rating: ; Mode of pathogenicity: ; Publications: 21848462, 21839423; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 IL2RG Eleanor Williams reviewed gene: IL2RG: Rating: ; Mode of pathogenicity: ; Publications: 8462096, 9921912, 8712778, 7668284; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 IL2RA Eleanor Williams reviewed gene: IL2RA: Rating: ; Mode of pathogenicity: ; Publications: 17196245, 23416241, 24116927; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 IL21R Eleanor Williams reviewed gene: IL21R: Rating: ; Mode of pathogenicity: ; Publications: 23440042, 12700598; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 IL21 Eleanor Williams reviewed gene: IL21: Rating: ; Mode of pathogenicity: ; Publications: 24746753; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 IL1RN Eleanor Williams reviewed gene: IL1RN: Rating: ; Mode of pathogenicity: ; Publications: 22127713, 19494218, 19494219; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 IL10RB Eleanor Williams reviewed gene: IL10RB: Rating: ; Mode of pathogenicity: ; Publications: 22236434; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 IL10RA Eleanor Williams reviewed gene: IL10RA: Rating: ; Mode of pathogenicity: ; Publications: 22236434; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 IL10 Eleanor Williams reviewed gene: IL10: Rating: ; Mode of pathogenicity: ; Publications: 22236434; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 IKBKG Eleanor Williams reviewed gene: IKBKG: Rating: ; Mode of pathogenicity: ; Publications: 16818673, 16950813, 11047757, 15356572, 11179023; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 IKBKB Eleanor Williams reviewed gene: IKBKB: Rating: ; Mode of pathogenicity: ; Publications: 24369075, 25216719; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 ICOS Eleanor Williams reviewed gene: ICOS: Rating: ; Mode of pathogenicity: ; Publications: 12577056, 28861081; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 FOXP3 Eleanor Williams reviewed gene: FOXP3: Rating: ; Mode of pathogenicity: ; Publications: 29241729, 18951619, 30443250; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 FOXN1 Eleanor Williams reviewed gene: FOXN1: Rating: ; Mode of pathogenicity: ; Publications: 10206641; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 FAT4 Eleanor Williams reviewed gene: FAT4: Rating: ; Mode of pathogenicity: ; Publications: 24056717, 22469822, 22473091, 24913602; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 FASLG Eleanor Williams reviewed gene: FASLG: Rating: ; Mode of pathogenicity: ; Publications: 25451160, 7511063, 16537120, 22857792, 8806292, 22983577, 16394653, 26907631; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 FAS Eleanor Williams reviewed gene: FAS: Rating: ; Mode of pathogenicity: ; Publications: 25451160, 7511063, 16537120, 22857792, 8806292, 22983577, 16394653, 26907631; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 FADD Eleanor Williams reviewed gene: FADD: Rating: ; Mode of pathogenicity: ; Publications: 18070632, 25794656, 21109225; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 FAAP24 Eleanor Williams reviewed gene: FAAP24: Rating: ; Mode of pathogenicity: ; Publications: 17289582, 27473539; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 EXTL3 Eleanor Williams reviewed gene: EXTL3: Rating: ; Mode of pathogenicity: ; Publications: 28148688, 28132690; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 EPG5 Eleanor Williams reviewed gene: EPG5: Rating: ; Mode of pathogenicity: ; Publications: 25331754, 28168853, 23222957; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 DOCK8 Eleanor Williams reviewed gene: DOCK8: Rating: ; Mode of pathogenicity: ; Publications: 25724123, 25627830, 19776401, 20004785; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 DOCK2 Eleanor Williams reviewed gene: DOCK2: Rating: ; Mode of pathogenicity: ; Publications: 29204803, 26083206; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 DCLRE1C Eleanor Williams reviewed gene: DCLRE1C: Rating: ; Mode of pathogenicity: ; Publications: 10416610, 32092471, 31393046, 26476407, 12055248, 12569164, 12406895, 11336668, 15731174, 24144642, 16540517; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 CTPS1 Eleanor Williams reviewed gene: CTPS1: Rating: ; Mode of pathogenicity: ; Publications: 24870241, 29884857; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 CTLA4 Eleanor Williams reviewed gene: CTLA4: Rating: ; Mode of pathogenicity: ; Publications: 29729943, 25213377, 25329329; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 CORO1A Eleanor Williams reviewed gene: CORO1A: Rating: ; Mode of pathogenicity: ; Publications: 23522482, 19097825, 25073507; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 COPA Eleanor Williams reviewed gene: COPA: Rating: ; Mode of pathogenicity: ; Publications: 25894502; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 CIITA Eleanor Williams reviewed gene: CIITA: Rating: ; Mode of pathogenicity: ; Publications: 11862382, 8402893, 9099848; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 CD8A Eleanor Williams reviewed gene: CD8A: Rating: ; Mode of pathogenicity: ; Publications: 17658607, 26563160, 11435463; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 CD70 Eleanor Williams reviewed gene: CD70: Rating: ; Mode of pathogenicity: ; Publications: 28011864, 28011863, 29434583; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 CD40LG Eleanor Williams reviewed gene: CD40LG: Rating: ; Mode of pathogenicity: ; Publications: 27189378, 19931163, 25840720, 27697500; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 CD40 Eleanor Williams reviewed gene: CD40: Rating: ; Mode of pathogenicity: ; Publications: 12584544, 24122029; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 CD3G Eleanor Williams reviewed gene: CD3G: Rating: ; Mode of pathogenicity: ; Publications: 29653965, 17277165, 24910257; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 CD3E Eleanor Williams reviewed gene: CD3E: Rating: ; Mode of pathogenicity: ; Publications: 15546002, 8490660; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 CD3D Eleanor Williams reviewed gene: CD3D: Rating: ; Mode of pathogenicity: ; Publications: 14602880, 15546002, 21926461; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 CD27 Eleanor Williams reviewed gene: CD27: Rating: ; Mode of pathogenicity: ; Publications: 25843314, 22801960; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 CD247 Eleanor Williams reviewed gene: CD247: Rating: ; Mode of pathogenicity: ; Publications: 17170122; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 CCBE1 Eleanor Williams reviewed gene: CCBE1: Rating: ; Mode of pathogenicity: ; Publications: 19911200, 19935664; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 CASP8 Eleanor Williams reviewed gene: CASP8: Rating: ; Mode of pathogenicity: ; Publications: 12353035, 15492869; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 CASP10 Eleanor Williams reviewed gene: CASP10: Rating: ; Mode of pathogenicity: ; Publications: 16446975, 27378136; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 CARMIL2 Eleanor Williams reviewed gene: CARMIL2: Rating: ; Mode of pathogenicity: ; Publications: 27647349, 28112205, 29479355; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 CARD14 Eleanor Williams reviewed gene: CARD14: Rating: ; Mode of pathogenicity: ; Publications: 22521418; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 CARD11 Eleanor Williams reviewed gene: CARD11: Rating: ; Mode of pathogenicity: ; Publications: 23561803, 23374270, 26289640; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 BCL11B Eleanor Williams commented on gene: BCL11B: The following PubMed IDs were added to gene BCL11B (OMIM gene MIM#606558): 27959755. These publications have been associated with the gene by the immunodeficiencies subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 BCL10 Eleanor Williams reviewed gene: BCL10: Rating: ; Mode of pathogenicity: ; Publications: 25365219; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 BACH2 Eleanor Williams reviewed gene: BACH2: Rating: ; Mode of pathogenicity: ; Publications: 28530713, 30527062; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 B2M Eleanor Williams reviewed gene: B2M: Rating: ; Mode of pathogenicity: ; Publications: 4186801, 25702838; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 AP3D1 Eleanor Williams reviewed gene: AP3D1: Rating: ; Mode of pathogenicity: ; Publications: 30472485, 26744459; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 AP3B1 Eleanor Williams reviewed gene: AP3B1: Rating: ; Mode of pathogenicity: ; Publications: 10024875, 16551969, 30974211; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 AP1S3 Eleanor Williams reviewed gene: AP1S3: Rating: ; Mode of pathogenicity: ; Publications: 24791904; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 AK2 Eleanor Williams reviewed gene: AK2: Rating: ; Mode of pathogenicity: ; Publications: 19043417; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 AIRE Eleanor Williams reviewed gene: AIRE: Rating: ; Mode of pathogenicity: ; Publications: 29483906, 9735375, 28257655, 30565240, 29949487; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 ADAM17 Eleanor Williams edited their review of gene: ADAM17: Added comment: The following PubMed IDs were added to entity ADAM17: 22010916. These publications have been associated with OMIM phenotype MIM#614328, which is listed for this entity, by the autoinflammation subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.; Changed publications: 22010916
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 ADA2 Eleanor Williams reviewed gene: ADA2: Rating: ; Mode of pathogenicity: ; Publications: 24552285, 24552284, 27059682, 27444081; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 ADA Eleanor Williams reviewed gene: ADA: Rating: ; Mode of pathogenicity: ; Publications: 6200875, 8227344, 3475710, 2166947, 2567118, 6134754; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 ACP5 Eleanor Williams reviewed gene: ACP5: Rating: ; Mode of pathogenicity: ; Publications: 26951490; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.207 ZAP70 Eleanor Williams reviewed gene: ZAP70: Rating: ; Mode of pathogenicity: ; Publications: 18509675, 26783323, 1333922, 21094993, 8124727, 2511270; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.207 PRKCD Eleanor Williams reviewed gene: PRKCD: Rating: ; Mode of pathogenicity: ; Publications: 23722905, 25842288, 19075392; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.207 NLRP3 Eleanor Williams edited their review of gene: NLRP3: Added comment: The following PubMed IDs were added to entity NLRP3: 14476827;14872505;11590390. These publications have been associated with OMIM phenotype MIM#191900, which is listed for this entity, by the autoinflammation subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.; Changed publications: 14476827, 14872505, 11590390
Primary immunodeficiency or monogenic inflammatory bowel disease v2.207 NLRC4 Eleanor Williams reviewed gene: NLRC4: Rating: ; Mode of pathogenicity: ; Publications: 25217960, 25217959; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.207 MEFV Eleanor Williams reviewed gene: MEFV: Rating: ; Mode of pathogenicity: ; Publications: 9266193, 15643295; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.207 BCL11B Eleanor Williams edited their review of gene: BCL11B: Added comment: The following PubMed IDs were added to entity BCL11B: 27959755. These publications have been associated with OMIM phenotype MIM#617237, which is listed for this entity, by the immunodeficiencies subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.; Changed publications: 27959755
Primary immunodeficiency or monogenic inflammatory bowel disease v2.206 NLRP3 Eleanor Williams reviewed gene: NLRP3: Rating: ; Mode of pathogenicity: ; Publications: 18423104, 11590390; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.205 USP18 Arina Puzriakova Phenotypes for gene: USP18 were changed from Pseudo-TORCH syndrome 2, 617397; Autoinflammatory Disorders; TORCH like syndrome to Pseudo-TORCH syndrome 2, 617397; Autoinflammatory Disorders
Primary immunodeficiency or monogenic inflammatory bowel disease v2.204 RELN Eleanor Williams gene: RELN was added
gene: RELN was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: RELN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RELN were set to 32001840
Phenotypes for gene: RELN were set to Ankylosing spondylitis
Review for gene: RELN was set to RED
Added comment: PMID: 32001840 - Garshasbi et al 2020. Report a large consanguineous Iranian family with ankylosing spondylitis and a heterozygous variant in RELN.

After consultation with the Genomics England clinical team it was decided to add this gene to the PID panel with a red rating until the phenotype association is confirmed. In general there is local spinal inflammation, rather than a systemic inflammatory response.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.203 STAT4 Arina Puzriakova Phenotypes for gene: STAT4 were changed from {Systemic lupus erythematosus, susceptibility to, 11}, 612253 to Paracoccidioidomycosis; Impaired IFN-γ Immunity; {Systemic lupus erythematosus, susceptibility to, 11}, 612253
Primary immunodeficiency or monogenic inflammatory bowel disease v2.202 STAT4 Arina Puzriakova Publications for gene: STAT4 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v2.201 STAT4 Arina Puzriakova Mode of inheritance for gene: STAT4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary immunodeficiency or monogenic inflammatory bowel disease v2.200 STAT4 Arina Puzriakova Classified gene: STAT4 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.200 STAT4 Arina Puzriakova Added comment: Comment on list classification: Only one kindred reported with a heterozygous variant in STAT4 associated with susceptibility to paracoccidioidomycosis. Additional cases needed to validate pathogenicity and therefore keeping rating Red.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.200 STAT4 Arina Puzriakova Gene: stat4 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.199 STAT4 Arina Puzriakova reviewed gene: STAT4: Rating: ; Mode of pathogenicity: None; Publications: 29029192; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary immunodeficiency or monogenic inflammatory bowel disease v2.199 STAT4 Boaz Palterer reviewed gene: STAT4: Rating: RED; Mode of pathogenicity: None; Publications: 29029192; Phenotypes: Paracoccidioidomycosis, Impaired IFN-γ Immunity; Mode of inheritance: Unknown
Primary immunodeficiency or monogenic inflammatory bowel disease v2.199 NLRP1 Eleanor Williams Phenotypes for gene: NLRP1 were changed from Dyskeratosis, autoimmunity and arthritis; Palmoplantar carcinoma, corneal scarring; Autoinflammatory Disorders; Autoinflammation with arthritis and dyskeratosis to Dyskeratosis, autoimmunity and arthritis; Palmoplantar carcinoma, corneal scarring; Autoinflammatory Disorders; Autoinflammation with arthritis and dyskeratosis, 617388
Primary immunodeficiency or monogenic inflammatory bowel disease v2.198 TREX1 Eleanor Williams Phenotypes for gene: TREX1 were changed from Aicardi-Goutieres syndrome 1, dominant and recessive; Type 1 interferonopathies; Classical AGS, SLE, FCL; Autoinflammatory Disorders to Aicardi-Goutieres syndrome 1, dominant and recessive, 225750; Type 1 interferonopathies; Classical AGS, SLE, FCL; Autoinflammatory Disorders
Primary immunodeficiency or monogenic inflammatory bowel disease v2.197 STK4 Eleanor Williams Phenotypes for gene: STK4 were changed from Hypergammaglobulinaemia, lymphopenia, combined immunodeficiency, congenital heart disease, autoimmunity; T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations; AR hyperimmunoglobulin E syndrome; Combined immunodeficiency; Intermittent neutropenia, bacterial, viral (HPV), candidal infections, EBV lymphoproliferation, autoimmune cytopenias, lymphoma, congenital heart disease; Immunodeficiencies affecting cellular and humoral immunity to Hypergammaglobulinaemia, lymphopenia, combined immunodeficiency, congenital heart disease, autoimmunity; T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, 614868; AR hyperimmunoglobulin E syndrome; Combined immunodeficiency; Intermittent neutropenia, bacterial, viral (HPV), candidal infections, EBV lymphoproliferation, autoimmune cytopenias, lymphoma, congenital heart disease; Immunodeficiencies affecting cellular and humoral immunity
Primary immunodeficiency or monogenic inflammatory bowel disease v2.196 DOCK8 Eleanor Williams Phenotypes for gene: DOCK8 were changed from Hyper-IgE recurrent infection syndrome, autosomal recessive; Hyper-IgE recurrent infection syndrome; impaired T cell function, Atopy, cutaneous viral infections; Combined immunodeficiency; Hyper IgE syndrome (HIES); Low NK cells with poor function, eosinophilia, recurrent infections, cutaneous viral, fungal and staphylococcal infections, severe atopy, cancer diathesis; Immunodeficiencies affecting cellular and humoral immunity to Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700; Hyper-IgE recurrent infection syndrome; impaired T cell function, Atopy, cutaneous viral infections; Combined immunodeficiency; Hyper IgE syndrome (HIES); Low NK cells with poor function, eosinophilia, recurrent infections, cutaneous viral, fungal and staphylococcal infections, severe atopy, cancer diathesis; Immunodeficiencies affecting cellular and humoral immunity
Primary immunodeficiency or monogenic inflammatory bowel disease v2.195 MAGT1 Eleanor Williams Phenotypes for gene: MAGT1 were changed from Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia; Chronic active EBV, lymphoproliferation, combined immunodeficiency, impaired t cell function; XMEN syndrome; Immunodeficiency, X-linked, with magnesium defect; Epstein-Barr virus infection and neoplasia (XMEN); Combined immunodeficiency; EBV infection, lymphoma, viral infections, respiratory and GI infections; Diseases of Immune Dysregulation; Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, 300853 to Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853; Chronic active EBV, lymphoproliferation, combined immunodeficiency, impaired t cell function; XMEN syndrome; Immunodeficiency, X-linked, with magnesium defect; Epstein-Barr virus infection and neoplasia (XMEN); Combined immunodeficiency; EBV infection, lymphoma, viral infections, respiratory and GI infections; Diseases of Immune Dysregulation
Primary immunodeficiency or monogenic inflammatory bowel disease v2.194 MAGT1 Eleanor Williams Phenotypes for gene: MAGT1 were changed from Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia; Chronic active EBV, lymphoproliferation, combined immunodeficiency, impaired t cell function; XMEN syndrome; Immunodeficiency, X-linked, with magnesium defect; Epstein-Barr virus infection and neoplasia (XMEN); Combined immunodeficiency; EBV infection, lymphoma, viral infections, respiratory and GI infections; Diseases of Immune Dysregulation to Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia; Chronic active EBV, lymphoproliferation, combined immunodeficiency, impaired t cell function; XMEN syndrome; Immunodeficiency, X-linked, with magnesium defect; Epstein-Barr virus infection and neoplasia (XMEN); Combined immunodeficiency; EBV infection, lymphoma, viral infections, respiratory and GI infections; Diseases of Immune Dysregulation; Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, 300853
Primary immunodeficiency or monogenic inflammatory bowel disease v2.193 PTEN Arina Puzriakova reviewed gene: PTEN: Rating: ; Mode of pathogenicity: None; Publications: 32588888; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary immunodeficiency or monogenic inflammatory bowel disease v2.193 SLC7A7 Arina Puzriakova reviewed gene: SLC7A7: Rating: GREEN; Mode of pathogenicity: None; Publications: 32504080; Phenotypes: Lysinuric protein intolerance, 222700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.193 TLR7 Arina Puzriakova Classified gene: TLR7 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.193 TLR7 Arina Puzriakova Added comment: Comment on list classification: Phenotype is more relevant to a severe COVID-19 clinical course - this gene is already Green on the COVID-19 research panel (Version 1.69).
Therefore, rating Amber, but this can be reviewed if new evidence emerges.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.193 TLR7 Arina Puzriakova Gene: tlr7 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.192 FNIP1 Arina Puzriakova Publications for gene: FNIP1 were set to 32905580
Primary immunodeficiency or monogenic inflammatory bowel disease v2.191 FNIP1 Arina Puzriakova Classified gene: FNIP1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.191 FNIP1 Arina Puzriakova Added comment: Comment on list classification: There is enough evidence to rate this gene GREEN at the next major review - at least 5 unrelated cases with immunodeficiency associated with biallelic FNIP1 variants, as well as supportive functional data and animal model.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.191 FNIP1 Arina Puzriakova Gene: fnip1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.190 FNIP1 Arina Puzriakova Tag for-review tag was added to gene: FNIP1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.190 FNIP1 Arina Puzriakova reviewed gene: FNIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32181500, 32905580; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.190 TOM1 Arina Puzriakova Classified gene: TOM1 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.190 TOM1 Arina Puzriakova Added comment: Comment on list classification: Relevant phenotype for this panel, but currently only a single family reported. Therefore, rating Red awaiting additional cases/clinical evidence to validate pathogenicity.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.190 TOM1 Arina Puzriakova Gene: tom1 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.189 TOM1 Arina Puzriakova reviewed gene: TOM1: Rating: ; Mode of pathogenicity: None; Publications: 31263572; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary immunodeficiency or monogenic inflammatory bowel disease v2.189 TNFSF13 Arina Puzriakova Classified gene: TNFSF13 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.189 TNFSF13 Arina Puzriakova Added comment: Comment on list classification: Relevant phenotype for this panel, but currently only a single case. Therefore, rating Red awaiting additional cases/clinical evidence to validate pathogenicity.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.189 TNFSF13 Arina Puzriakova Gene: tnfsf13 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.188 TNFSF13 Arina Puzriakova reviewed gene: TNFSF13: Rating: ; Mode of pathogenicity: None; Publications: 32298700; Phenotypes: Common variable immunodeficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.188 TET2 Arina Puzriakova changed review comment from: Comment on list classification: Additional cases required before inclusion of this gene on a diagnostic panel.

Rating Amber in anticipation of further publications/clinical evidence.; to: Comment on list classification: Additional cases required before inclusion of this gene on a diagnostic panel. Rating Amber in anticipation of further publications/clinical evidence.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.188 TET2 Arina Puzriakova Classified gene: TET2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.188 TET2 Arina Puzriakova Added comment: Comment on list classification: Additional cases required before inclusion of this gene on a diagnostic panel.

Rating Amber in anticipation of further publications/clinical evidence.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.188 TET2 Arina Puzriakova Gene: tet2 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.187 TET2 Arina Puzriakova changed review comment from: PMID: 32518946 (2020) - Three cases from two unrelated consanguineous families with immunodeficiency and lymphoproliferative disease, associated with homozygous variants (c.4145A>G, p.H1382R and c.4894C>T,
p.Q1632*) in the TET2 gene. Molecular studies showed that the variants result in altered DNA methylation and B-cell maturation, as well as skewed T-cell differentiation and hematopoiesis.; to: PMID: 32518946 (2020) - Three cases from two unrelated consanguineous families with immunodeficiency and lymphoproliferative disease, associated with homozygous variants (c.4145A>G, p.H1382R and c.4894C>T, p.Q1632*) in the TET2 gene. Molecular studies showed that the variants result in altered DNA methylation and B-cell maturation, as well as skewed T-cell differentiation and hematopoiesis.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.187 TET2 Arina Puzriakova reviewed gene: TET2: Rating: ; Mode of pathogenicity: None; Publications: 32518946; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.187 MCM10 Arina Puzriakova Classified gene: MCM10 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.187 MCM10 Arina Puzriakova Added comment: Comment on list classification: Relevant phenotype for this panel, but additional cases required to validate pathogenicity.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.187 MCM10 Arina Puzriakova Gene: mcm10 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.186 MAPK8 Arina Puzriakova Classified gene: MAPK8 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.186 MAPK8 Arina Puzriakova Added comment: Comment on list classification: Relevant phenotype for this panel, but additional cases required to validate pathogenicity.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.186 MAPK8 Arina Puzriakova Gene: mapk8 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.185 MAPK8 Arina Puzriakova reviewed gene: MAPK8: Rating: ; Mode of pathogenicity: None; Publications: 31784499; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary immunodeficiency or monogenic inflammatory bowel disease v2.185 CTNNBL1 Arina Puzriakova Classified gene: CTNNBL1 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.185 CTNNBL1 Arina Puzriakova Added comment: Comment on list classification: Relevant phenotype for this panel, but additional cases required to validate pathogenicity.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.185 CTNNBL1 Arina Puzriakova Gene: ctnnbl1 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.184 CTNNBL1 Arina Puzriakova reviewed gene: CTNNBL1: Rating: ; Mode of pathogenicity: None; Publications: 32484799; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.184 CTNNBL1 Boaz Palterer edited their review of gene: CTNNBL1: Changed rating: RED
Primary immunodeficiency or monogenic inflammatory bowel disease v2.184 FNIP1 Boaz Palterer gene: FNIP1 was added
gene: FNIP1 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: FNIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FNIP1 were set to 32905580
Phenotypes for gene: FNIP1 were set to Primary Immunodeficiency; Agammaglobulinemia; Hypertrophic Cardiomyopathy; Neutropenia
Penetrance for gene: FNIP1 were set to unknown
Review for gene: FNIP1 was set to AMBER
Added comment: Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.184 TET2 Zornitza Stark reviewed gene: TET2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32518946; Phenotypes: Immune dysregulation, Lymphoma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v2.184 TLR7 Zornitza Stark gene: TLR7 was added
gene: TLR7 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: TLR7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: TLR7 were set to 32706371
Phenotypes for gene: TLR7 were set to Immunodeficiency 74, COVID19-related, X-linked, MIM# 301051
Review for gene: TLR7 was set to GREEN
Added comment: Four affected individuals from two unrelated families and some functional data.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.184 TET2 Boaz Palterer gene: TET2 was added
gene: TET2 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: TET2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TET2 were set to 32518946
Phenotypes for gene: TET2 were set to Primary Immunodeficiency; Lymphoma; Hepatosplenomegaly; Autoimmunity; Developmental delay
Penetrance for gene: TET2 were set to unknown
Review for gene: TET2 was set to AMBER
Added comment: Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.184 MCM10 Boaz Palterer edited their review of gene: MCM10: Changed phenotypes: NK Cell deficiency, primary Immunodeficiency
Primary immunodeficiency or monogenic inflammatory bowel disease v2.184 TNFSF13 Boaz Palterer gene: TNFSF13 was added
gene: TNFSF13 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: TNFSF13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNFSF13 were set to 32298700
Phenotypes for gene: TNFSF13 were set to APRIL deficiency; Common variable immunodeficiency
Penetrance for gene: TNFSF13 were set to unknown
Primary immunodeficiency or monogenic inflammatory bowel disease v2.184 TOM1 Boaz Palterer gene: TOM1 was added
gene: TOM1 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: TOM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TOM1 were set to 31263572
Phenotypes for gene: TOM1 were set to early-onset autoimmunity; antibody deficiency; combined immunodeficiency; primary immunodeficiency
Penetrance for gene: TOM1 were set to unknown
Review for gene: TOM1 was set to RED
Added comment: Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.184 MAPK8 Boaz Palterer gene: MAPK8 was added
gene: MAPK8 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: MAPK8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAPK8 were set to 31901076
Phenotypes for gene: MAPK8 were set to chronic mucocutaneous candidiasis; connective tissue disorders
Penetrance for gene: MAPK8 were set to unknown
Review for gene: MAPK8 was set to AMBER
Added comment: Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.184 CTNNBL1 Boaz Palterer gene: CTNNBL1 was added
gene: CTNNBL1 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: CTNNBL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTNNBL1 were set to 32484799
Phenotypes for gene: CTNNBL1 were set to Primary Immunodeficiency; Autoimmune Cytopenias; Common variable immunodeficiency
Penetrance for gene: CTNNBL1 were set to unknown
Review for gene: CTNNBL1 was set to AMBER
Added comment: Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.184 MCM10 Boaz Palterer gene: MCM10 was added
gene: MCM10 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: MCM10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCM10 were set to 32865517
Penetrance for gene: MCM10 were set to unknown
Review for gene: MCM10 was set to AMBER
Added comment: Compound heterozygous variants in minichromosomal maintenance complex member 10 (MCM10) were reported as a cause of NK-cell deficiency in a child with fatal susceptibility to CMV.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.184 NCKAP1L Zornitza Stark edited their review of gene: NCKAP1L: Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v2.184 IVNS1ABP Arina Puzriakova Tag watchlist tag was added to gene: IVNS1ABP.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.184 IVNS1ABP Arina Puzriakova Classified gene: IVNS1ABP as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.184 IVNS1ABP Arina Puzriakova Added comment: Comment on list classification: Rating Amber in view of the possibility of incomplete penetrance, and uninformative segregation analysis in 2/3 cases. Awaiting additional publications/clinical evidence to validate association (added to watchlist).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.184 IVNS1ABP Arina Puzriakova Gene: ivns1abp has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.183 IVNS1ABP Arina Puzriakova Tag for-review was removed from gene: IVNS1ABP.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.183 IVNS1ABP Arina Puzriakova Deleted their comment
Primary immunodeficiency or monogenic inflammatory bowel disease v2.183 IVNS1ABP Arina Puzriakova edited their review of gene: IVNS1ABP: Changed rating: AMBER
Primary immunodeficiency or monogenic inflammatory bowel disease v2.183 NCKAP1L Arina Puzriakova Publications for gene: NCKAP1L were set to 32647003
Primary immunodeficiency or monogenic inflammatory bowel disease v2.182 NCKAP1L Arina Puzriakova Classified gene: NCKAP1L as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.182 NCKAP1L Arina Puzriakova Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review - at least six unrelated families with distinct variants in this gene presenting the relevant phenotype.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.182 NCKAP1L Arina Puzriakova Gene: nckap1l has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.181 NCKAP1L Arina Puzriakova Tag for-review tag was added to gene: NCKAP1L.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.181 NCKAP1L Arina Puzriakova reviewed gene: NCKAP1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 32647003, 32766723; Phenotypes: Immunodeficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.181 SOCS1 Arina Puzriakova Classified gene: SOCS1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.181 SOCS1 Arina Puzriakova Gene: socs1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.180 PTPN2 Arina Puzriakova Classified gene: PTPN2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.180 PTPN2 Arina Puzriakova Added comment: Comment on list classification: Rating Amber as additional cases required for inclusion of PTPN2 on a diagnostic panel.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.180 PTPN2 Arina Puzriakova Gene: ptpn2 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.179 IVNS1ABP Arina Puzriakova Tag for-review tag was added to gene: IVNS1ABP.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.179 IVNS1ABP Arina Puzriakova Phenotypes for gene: IVNS1ABP were changed from primary immunodeficiency to Immunodeficiency 70, MIM#618969
Primary immunodeficiency or monogenic inflammatory bowel disease v2.178 IVNS1ABP Arina Puzriakova Publications for gene: IVNS1ABP were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v2.177 IVNS1ABP Arina Puzriakova Mode of inheritance for gene: IVNS1ABP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary immunodeficiency or monogenic inflammatory bowel disease v2.176 IVNS1ABP Arina Puzriakova Classified gene: IVNS1ABP as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.176 IVNS1ABP Arina Puzriakova Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.176 IVNS1ABP Arina Puzriakova Gene: ivns1abp has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.175 IVNS1ABP Arina Puzriakova reviewed gene: IVNS1ABP: Rating: GREEN; Mode of pathogenicity: None; Publications: 32499645; Phenotypes: Immunodeficiency 70, 618969; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary immunodeficiency or monogenic inflammatory bowel disease v2.175 NCKAP1L Zornitza Stark gene: NCKAP1L was added
gene: NCKAP1L was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: NCKAP1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NCKAP1L were set to 32647003
Phenotypes for gene: NCKAP1L were set to Immunodeficiency; Immune dysregulation
gene: NCKAP1L was marked as current diagnostic
Added comment: 5 individuals from 4 families with recurrent bacterial and viral skin infections, severe respiratory tract infections leading to pneumonia and bronchiectasis. Functional studies of the 4 missense reported were performed.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.175 IVNS1ABP Zornitza Stark reviewed gene: IVNS1ABP: Rating: GREEN; Mode of pathogenicity: None; Publications: 32499645; Phenotypes: Immunodeficiency 70, MIM#618969; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v2.175 PTPN2 Zornitza Stark gene: PTPN2 was added
gene: PTPN2 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: PTPN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTPN2 were set to 32499645; 27658548
Phenotypes for gene: PTPN2 were set to Lupus; arthritis; common variable immunodeficiency
Review for gene: PTPN2 was set to AMBER
Added comment: A single family with a proband diagnosed with CVID and arthiritis (among other features) with an intronic expression quantitative trait loci (eQTL) rs2847297-G in trans with a stopgain variant. The stopgain variant was also identified in the proband's mother, who was diagnosed with lupus. A Ptpn2 deficient mouse model also demonstrates an autoimmune phenotype.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.175 SOCS1 Zornitza Stark gene: SOCS1 was added
gene: SOCS1 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: SOCS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOCS1 were set to 32499645; 10490099; 10490100
Phenotypes for gene: SOCS1 were set to Common variable immunodeficiency
Review for gene: SOCS1 was set to GREEN
gene: SOCS1 was marked as current diagnostic
Added comment: 2 unrealted families with truncating variants with supportive immunophenotyping of patient cells, and supporting null mouse models.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.175 ZNF34 Sarah Leigh reviewed gene: ZNF34: 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 v2.175 ZFP36 Sarah Leigh reviewed gene: ZFP36: 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 v2.175 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 v2.175 TUBGCP3 Sarah Leigh reviewed gene: TUBGCP3: 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 v2.175 TSPAN14 Sarah Leigh reviewed gene: TSPAN14: 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 v2.175 TNIP1 Sarah Leigh reviewed gene: TNIP1: 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 v2.175 SLC13A4 Sarah Leigh reviewed gene: SLC13A4: 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 v2.175 ODC1 Sarah Leigh reviewed gene: ODC1: 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 v2.175 MTPAP Sarah Leigh reviewed gene: MTPAP: 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 v2.175 MICA Sarah Leigh reviewed gene: MICA: 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 v2.175 MED13L Sarah Leigh reviewed gene: MED13L: 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 v2.175 IVNS1ABP Sarah Leigh reviewed gene: IVNS1ABP: 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 v2.175 FOXM1 Sarah Leigh reviewed gene: FOXM1: 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 v2.175 FBRS Sarah Leigh reviewed gene: FBRS: 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 v2.175 CXorf36 Sarah Leigh reviewed gene: CXorf36: 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 v2.175 ABI3 Sarah Leigh reviewed gene: ABI3: 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 ZNF34 Sarah Leigh gene: ZNF34 was added
gene: ZNF34 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: ZNF34 was set to Unknown
Phenotypes for gene: ZNF34 were set to primary immunodeficiency
Primary immunodeficiency or monogenic inflammatory bowel disease v2.174 ZFP36 Sarah Leigh gene: ZFP36 was added
gene: ZFP36 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: ZFP36 was set to Unknown
Phenotypes for gene: ZFP36 were set to primary immunodeficiency
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 v2.174 TUBGCP3 Sarah Leigh gene: TUBGCP3 was added
gene: TUBGCP3 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: TUBGCP3 was set to Unknown
Phenotypes for gene: TUBGCP3 were set to primary immunodeficiency
Primary immunodeficiency or monogenic inflammatory bowel disease v2.174 TSPAN14 Sarah Leigh gene: TSPAN14 was added
gene: TSPAN14 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: TSPAN14 was set to Unknown
Phenotypes for gene: TSPAN14 were set to primary immunodeficiency
Primary immunodeficiency or monogenic inflammatory bowel disease v2.174 TNIP1 Sarah Leigh gene: TNIP1 was added
gene: TNIP1 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: TNIP1 was set to Unknown
Phenotypes for gene: TNIP1 were set to primary immunodeficiency
Primary immunodeficiency or monogenic inflammatory bowel disease v2.174 SLC13A4 Sarah Leigh gene: SLC13A4 was added
gene: SLC13A4 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: SLC13A4 was set to Unknown
Phenotypes for gene: SLC13A4 were set to primary immunodeficiency
Primary immunodeficiency or monogenic inflammatory bowel disease v2.174 ODC1 Sarah Leigh gene: ODC1 was added
gene: ODC1 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: ODC1 was set to Unknown
Phenotypes for gene: ODC1 were set to primary immunodeficiency
Primary immunodeficiency or monogenic inflammatory bowel disease v2.174 MTPAP Sarah Leigh gene: MTPAP was added
gene: MTPAP was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: MTPAP was set to Unknown
Phenotypes for gene: MTPAP were set to primary immunodeficiency
Primary immunodeficiency or monogenic inflammatory bowel disease v2.174 MICA Sarah Leigh gene: MICA was added
gene: MICA was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: MICA was set to Unknown
Phenotypes for gene: MICA were set to primary immunodeficiency
Primary immunodeficiency or monogenic inflammatory bowel disease v2.174 MED13L Sarah Leigh gene: MED13L was added
gene: MED13L was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: MED13L was set to Unknown
Phenotypes for gene: MED13L were set to primary immunodeficiency
Primary immunodeficiency or monogenic inflammatory bowel disease v2.174 IVNS1ABP Sarah Leigh gene: IVNS1ABP was added
gene: IVNS1ABP was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: IVNS1ABP was set to Unknown
Phenotypes for gene: IVNS1ABP were set to primary immunodeficiency
Primary immunodeficiency or monogenic inflammatory bowel disease v2.174 FOXM1 Sarah Leigh gene: FOXM1 was added
gene: FOXM1 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: FOXM1 was set to Unknown
Phenotypes for gene: FOXM1 were set to primary immunodeficiency
Primary immunodeficiency or monogenic inflammatory bowel disease v2.174 FBRS Sarah Leigh gene: FBRS was added
gene: FBRS was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: FBRS was set to Unknown
Phenotypes for gene: FBRS were set to primary immunodeficiency
Primary immunodeficiency or monogenic inflammatory bowel disease v2.174 CXorf36 Sarah Leigh gene: CXorf36 was added
gene: CXorf36 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: CXorf36 was set to Unknown
Phenotypes for gene: CXorf36 were set to primary immunodeficiency
Primary immunodeficiency or monogenic inflammatory bowel disease v2.174 ABI3 Sarah Leigh gene: ABI3 was added
gene: ABI3 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: ABI3 was set to Unknown
Phenotypes for gene: ABI3 were set to primary immunodeficiency
Primary immunodeficiency or monogenic inflammatory bowel disease v2.173 BLOC1S6 Eleanor Williams Tag for-review tag was added to gene: BLOC1S6.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.173 BLOC1S6 Eleanor Williams Classified gene: BLOC1S6 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.173 BLOC1S6 Eleanor Williams Added comment: Comment on list classification: Promoting from red to amber. The immune dysfunction phenotype is not as clear as the platelet anomalies and ocular / oculocutaneous albinism phenotype. Therefore rating this gene as amber for now.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.173 BLOC1S6 Eleanor Williams Gene: bloc1s6 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.172 BCL11B Eleanor Williams Classified gene: BCL11B as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.172 BCL11B Eleanor Williams Added comment: Comment on list classification: Following review by the Genomics England clinical team it was decided to promote this gene from red to amber pending further cases with an immune deficiency phenotype.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.172 BCL11B Eleanor Williams Gene: bcl11b has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.171 CD247 Ivone Leong Classified gene: CD247 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.171 CD247 Ivone Leong Added comment: Comment on list classification: Promoted from Amber to Green after discussion with the Genomics England Clinical Team. An additional case was found (PMID: 26542031). Therefore, there is enough evidence to promote this gene to Green status.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.171 CD247 Ivone Leong Gene: cd247 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.170 SEC61A1 Ivone Leong Tag watchlist was removed from gene: SEC61A1.
Tag for-review tag was added to gene: SEC61A1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.170 SEC61A1 Ivone Leong Classified gene: SEC61A1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.170 SEC61A1 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber after discussion with the Genomics England Clinical Team. As there are only 2 families described it was decided that this gene should be rated as Amber. Also added for-review tag.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.170 SEC61A1 Ivone Leong Gene: sec61a1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.169 SEC61A1 Ivone Leong Tag watchlist tag was added to gene: SEC61A1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.169 TNFRSF13B Ivone Leong reviewed gene: TNFRSF13B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.169 OAS1 Rebecca Foulger Classified gene: OAS1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.169 OAS1 Rebecca Foulger Added comment: Comment on list classification: Upgraded rating from Amber to Green following advice from Helen Brittain (Genomics England Clinical Team): There appear to be three unrelated families with variants and hypogammaglobulinaemia. I think this is a relevant phenotype for immune dysfunction.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.169 OAS1 Rebecca Foulger Gene: oas1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.168 MYO5B Rebecca Foulger changed review comment from: Added 'for-review' tag to highlight Red review from Zornitza (lack of published information) vs multiple Green GLH reviews.; to: In agreement with Helen Brittain (Genomics England Clinical Team), added 'for-review' tag to highlight Red review from Zornitza (lack of published information) vs multiple Green GLH reviews.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.168 MYO5B Rebecca Foulger commented on gene: MYO5B
Primary immunodeficiency or monogenic inflammatory bowel disease v2.168 MYO5B Rebecca Foulger Tag for-review tag was added to gene: MYO5B.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.168 HAVCR2 Sarah Leigh Classified gene: HAVCR2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.168 HAVCR2 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in at least 20 families. PMID 30374066 haplotype analysis identified at least 12 distinct chromosome backgrounds within 7 families homozygous for rs184868814, suggestive of recurrant occurrence.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.168 HAVCR2 Sarah Leigh Gene: havcr2 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.167 HAVCR2 Sarah Leigh Phenotypes for gene: HAVCR2 were changed from Tim-3 deficiency; T-cell lymphoma, subcutaneous panniculitis-like, HLH; T-cell lymphoma, subcutaneous panniculitis-like, 618398; Autoinflammatory Disorders to T-cell lymphoma, subcutaneous panniculitis-like, 618398; Tim-3 deficiency; Autoinflammatory Disorders
Primary immunodeficiency or monogenic inflammatory bowel disease v2.166 ICOSLG Sarah Leigh Classified gene: ICOSLG as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.166 ICOSLG Sarah Leigh Gene: icoslg has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.165 ICOSLG Sarah Leigh Classified gene: ICOSLG as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.165 ICOSLG Sarah Leigh Added comment: Comment on list classification: Not associated with phenotype in OMIM or in Gen2Phen. One homozygous variant reported in one case of Combined Immunodeficiency. Supportive functional evidence was presented. This variant in this French Canadian case has been reported twice in PMID 30498080 & 31532372.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.165 ICOSLG Sarah Leigh Gene: icoslg has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.164 ICOSLG Sarah Leigh Publications for gene: ICOSLG were set to 32086639; 32048120; 30498080; 31532372
Primary immunodeficiency or monogenic inflammatory bowel disease v2.163 ICOSLG Sarah Leigh Publications for gene: ICOSLG were set to 32086639; 32048120; 30498080
Primary immunodeficiency or monogenic inflammatory bowel disease v2.162 IL2RB Sarah Leigh Classified gene: IL2RB as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.162 IL2RB Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 4 variants reported in at least 5 unrelated families (two families with the same variant had shared ethnic heritage PMID 31040185).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.162 IL2RB Sarah Leigh Gene: il2rb has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.161 IL6R Sarah Leigh Classified gene: IL6R as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.161 IL6R Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 4 variants reported in at least 3 unrelated cases, together with supportive functional studies.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.161 IL6R Sarah Leigh Gene: il6r has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.160 IL6R Sarah Leigh Phenotypes for gene: IL6R were changed from Hyper-IgE; Eczema; Recurrent infections; Recurrent pyogenic infections, cold abscesses, high circulating IL-6 levels; Combined immunodeficiencies with associated or syndromic features to [Interleukin 6, serum level of, QTL] 614752; [Interleukin-6 receptor, soluble, serum level of, QTL] 614689; Hyper-IgE; Eczema; Recurrent infections; Recurrent pyogenic infections, cold abscesses, high circulating IL-6 levels; Combined immunodeficiencies with associated or syndromic features
Primary immunodeficiency or monogenic inflammatory bowel disease v2.159 FCHO1 Sarah Leigh Classified gene: FCHO1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.159 FCHO1 Sarah Leigh Added comment: Comment on list classification: Not associated with phenotype in OMIM or in Gen2Phen. At least 5 biallelic variants reported in at least 5 unrelated cases, together with supportive functional studies.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.159 FCHO1 Sarah Leigh Gene: fcho1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.158 IL6ST Sarah Leigh Classified gene: IL6ST as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.158 IL6ST Sarah Leigh Added comment: Comment on list classification: Based on expert review and the reporting of additional variants.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.158 IL6ST Sarah Leigh Gene: il6st has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.157 IL6ST Sarah Leigh Added comment: Comment on phenotypes: Eosinophilia;Eczema;Bacterial infections, boiles, eczema, pulmonary abscesses, pneumatoceles, bone fractures, scoliosis, retention of primary teeth, craniosynostosis;Abnormal acute-phase responses;Recurrent infections;Elevated IgE;Combined immunodeficiencies with associated or syndromic features
Primary immunodeficiency or monogenic inflammatory bowel disease v2.157 IL6ST Sarah Leigh Phenotypes for gene: IL6ST were changed from Eosinophilia; Eczema; Bacterial infections, boiles, eczema, pulmonary abscesses, pneumatoceles, bone fractures, scoliosis, retention of primary teeth, craniosynostosis; Abnormal acute-phase responses; Recurrent infections; Elevated IgE; Combined immunodeficiencies with associated or syndromic features to Hyper-IgE recurrent infection syndrome 4, autosomal recessive 618523; Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response.; Hyper-IgE syndrome, autosomal dominant
Primary immunodeficiency or monogenic inflammatory bowel disease v2.156 IL6ST Sarah Leigh Publications for gene: IL6ST were set to 31235509; 32086639; 30309848; 28747427; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.155 CD4 Ivone Leong Classified gene: CD4 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.155 CD4 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber based on expert review.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.155 CD4 Ivone Leong Gene: cd4 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.154 CD4 Ivone Leong Mode of inheritance for gene: CD4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.153 CDC42 Ivone Leong Classified gene: CDC42 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.153 CDC42 Ivone Leong Added comment: Comment on list classification: Gene added by Zornitza Stark (Australian Genomics) with a suggested Green rating based on evidence she has provided.

As well as the listed cases there is another paper (PMID: 31271789) describing 4 unrelated cases with de novo variants in CDC42 (p.C188Y, p.R186C, p.*192C*24). The patients predominantly had systemic autoinflammatory disease and development of HLH.

Therefore there is enough evidence to rate this gene as Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.153 CDC42 Ivone Leong Gene: cdc42 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.152 CDC42 Ivone Leong Publications for gene: CDC42 were set to 31601675; 32303876; 32231661
Primary immunodeficiency or monogenic inflammatory bowel disease v2.151 PIK3CG Ivone Leong Classified gene: PIK3CG as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.151 PIK3CG Ivone Leong Added comment: Comment on list classification: Gene added by Zornitza Stark (Australian Genomics) with recommended Green status based on provided evidence. There is enough evidence for this gene to be rated Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.151 PIK3CG Ivone Leong Gene: pik3cg has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.150 RIPK1 Ivone Leong Publications for gene: RIPK1 were set to 30026316; 30591564; 31213653; 31827280
Primary immunodeficiency or monogenic inflammatory bowel disease v2.149 RIPK1 Ivone Leong Added comment: Comment on mode of inheritance: MOI updated from Biallelic to Both monoallelic and biallelic based on new evidence provided by Zornitza Stark (Australian Genomics). PMID: 31827280.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.149 RIPK1 Ivone Leong Mode of inheritance for gene: RIPK1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.148 RIPK1 Ivone Leong Publications for gene: RIPK1 were set to 30026316
Primary immunodeficiency or monogenic inflammatory bowel disease v2.147 ITPKB Ivone Leong Classified gene: ITPKB as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.147 ITPKB Ivone Leong Added comment: Comment on list classification: Gene added by Zornitza Stark (Australian Genomics) with a recommended Red gene rating based on evidence provided. PMID: 31987846 describes a patient born of consanguineous Egyptian parents. The patient failed to thrive and had persistent thrush shortly after birth, recurrent pneumonias beginning at age 2 months, and Klebsiella pneumoniae skin abscesses at age 6 and 10 months. She had severe SCID.

PMID: 14517551 is a itpkb-/- mouse. Knockout of the gene caused a severe T cell deficiency. Based on these 2 pieces of information the gene has been given an Amber gene rating.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.147 ITPKB Ivone Leong Gene: itpkb has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.146 ITPKB Ivone Leong Publications for gene: ITPKB were set to 31987846
Primary immunodeficiency or monogenic inflammatory bowel disease v2.145 NOS2 Ivone Leong Classified gene: NOS2 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.145 NOS2 Ivone Leong Added comment: Comment on list classification: Gene was added to panel by Zornitza Stark (Australian Genomics). The gene was given the suggested Red rating based on evidence provided by expert reviewer.

PMID: 31995689 describes a 51 year old man from Iran who had an acute cytomegalovirus (CMV) infection which progressed to CMV disease and later died from it. The researchers found a homozygous variant that causes a frameshift mutation in NOS2 that caused NOS2 deficiency, which might cause the patient to be more susceptible to lethal CMV infection. The patient was otherwise healthy until the CMV infection.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.145 NOS2 Ivone Leong Gene: nos2 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.144 NOS2 Ivone Leong Publications for gene: NOS2 were set to 12433515; 31995689
Primary immunodeficiency or monogenic inflammatory bowel disease v2.143 IFNG Ivone Leong Classified gene: IFNG as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.143 IFNG Ivone Leong Added comment: Comment on list classification: This gene has been given Red status based on expert review. PMID: 32163377 does have some functional data; however, it is cellular-based work.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.143 IFNG Ivone Leong Gene: ifng has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.142 CD4 Ivone Leong Phenotypes for gene: CD4 were changed from Selective CD4 cell deficiency; OKT4 epitope deficiency, 613949 to Selective CD4 cell deficiency; OKT4 epitope deficiency, 613949; Absence of CD4+ T cells; exuberant, relapsing, treatment-refractory warts
Primary immunodeficiency or monogenic inflammatory bowel disease v2.141 CD4 Ivone Leong Publications for gene: CD4 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v2.140 CD4 Ivone Leong Phenotypes for gene: CD4 were changed from Selective CD4 cell deficiency to Selective CD4 cell deficiency; OKT4 epitope deficiency, 613949
Primary immunodeficiency or monogenic inflammatory bowel disease v2.139 CD4 Zornitza Stark changed review comment from: Single individual reported, functional data, emerging gene.; to: Single individual reported, functional data, emerging gene.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.139 CD4 Zornitza Stark reviewed gene: CD4: Rating: AMBER; Mode of pathogenicity: None; Publications: 31781092; Phenotypes: Absence of CD4+ T cells, exuberant, relapsing, treatment-refractory warts; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.139 IFNG Zornitza Stark gene: IFNG was added
gene: IFNG was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: IFNG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFNG were set to 32163377
Phenotypes for gene: IFNG were set to Mendelian susceptibility to mycobacterial disease
Review for gene: IFNG was set to RED
Added comment: Two cousins with MSMD and homozygous intragenic deletion, some functional data.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.139 NOS2 Zornitza Stark gene: NOS2 was added
gene: NOS2 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: NOS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NOS2 were set to 12433515; 31995689
Phenotypes for gene: NOS2 were set to {Malaria, resistance to} 611162; Disseminated CMV disease
Review for gene: NOS2 was set to RED
Added comment: Promoter polymorphisms linked to malarial resistance. Single individual reported with homozygous NOS2 LOF variant and disseminated, progressive CMV disease.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.139 ITPKB Zornitza Stark gene: ITPKB was added
gene: ITPKB was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: ITPKB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITPKB were set to 31987846
Phenotypes for gene: ITPKB were set to Severe combined immunodeficiency, absent T cells, present B cells and NK cells
Review for gene: ITPKB was set to RED
Added comment: Single individual with homozygous bi-allelic LoF variant reported.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.139 CDC42 Zornitza Stark gene: CDC42 was added
gene: CDC42 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: CDC42 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDC42 were set to 31601675; 32303876; 32231661
Phenotypes for gene: CDC42 were set to Neonatal-onset cytopaenia with dyshaematopoiesis; autoinflammation; rash; HLH
Review for gene: CDC42 was set to GREEN
Added comment: PMID 31601675: four unrelated individuals with superimposable features, including neonatal-onset cytopenia with dyshematopoiesis, autoinflammation, rash, and HLH. All shared the same de novo CDC42 variant (Chr1:22417990C>T, p.R186C). Another pair of sibs reported in PMID 32303876 with infantile myelofibrosis and myeloproliferation and same variant (parental mosaicism). Yet another individual in PMID 32231661 with different de novo variant, p.Cys81Tyr who in addition developed haematological malignancy and also had syndromic features, including ID. Note other missense variants in this gene cause Takenouchi-Kosaki syndrome, MIM# 616737
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.139 RIPK1 Zornitza Stark edited their review of gene: RIPK1: Added comment: Please note recent report of mono-allelic variants in two families.; Changed publications: 30026316, 30591564, 31213653, 31827280; Changed phenotypes: Severe immunodeficiency, arthritis, and intestinal inflammation, Immunodeficiency 57, MIM#618108; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.139 PIK3CG Zornitza Stark gene: PIK3CG was added
gene: PIK3CG was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: PIK3CG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIK3CG were set to 32001535; 31554793
Phenotypes for gene: PIK3CG were set to Immune dysregulation; HLH-like; childhood-onset antibody defects; cytopenias; T lymphocytic pneumonitis and colitis
Review for gene: PIK3CG was set to GREEN
Added comment: Two individuals with complex immunological phenotypes reported and a mouse model.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.139 LIG1 Rebecca Foulger Classified gene: LIG1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.139 LIG1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green. Red review pre-dates paper PMID:30395541 which provides 5 patients (3 kindreds) for evidence of association with immunodeficiency. Although severity of phenotype is variable, just sufficient cases for inclusion.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.139 LIG1 Rebecca Foulger Gene: lig1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.138 LIG1 Rebecca Foulger commented on gene: LIG1
Primary immunodeficiency or monogenic inflammatory bowel disease v2.138 NLRP1 Rebecca Foulger commented on gene: NLRP1: PMID:27662089: Zhong et al., 2016 report germline GOF variants in NLRP1 which cause two overlapping skin disorders (MSPC and FKLC), linking NLRP1 to skin inflammatory syndromes.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.138 NLRP1 Rebecca Foulger commented on gene: NLRP1
Primary immunodeficiency or monogenic inflammatory bowel disease v2.138 OAS1 Rebecca Foulger Classified gene: OAS1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.138 OAS1 Rebecca Foulger Added comment: Comment on list classification: Updated from Red to Amber, awaiting clinical review.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.138 OAS1 Rebecca Foulger Gene: oas1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.137 OAS1 Rebecca Foulger commented on gene: OAS1
Primary immunodeficiency or monogenic inflammatory bowel disease v2.137 PAX1 Rebecca Foulger Classified gene: PAX1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.137 PAX1 Rebecca Foulger Added comment: Comment on list classification: Added to panel and rated Green by Zornitza Stark. Updated rating from Grey to Green based on 2 papers (PMID:28657137 and PMID:32111619): 8 individuals from 4 unrelated families with SCID.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.137 PAX1 Rebecca Foulger Gene: pax1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.136 PAX1 Rebecca Foulger Phenotypes for gene: PAX1 were changed from Syndromic SCID; dysmorphism; ear abnormalities; otofaciocervical syndrome to Otofaciocervical syndrome 2, 615560; Syndromic SCID; dysmorphism; ear abnormalities; otofaciocervical syndrome
Primary immunodeficiency or monogenic inflammatory bowel disease v2.135 PAX1 Rebecca Foulger Publications for gene: PAX1 were set to 32111619
Primary immunodeficiency or monogenic inflammatory bowel disease v2.134 PAX1 Rebecca Foulger commented on gene: PAX1: PMID:28657137. Paganini et al., 2017 report a North African family with AR Otofaciocervical syndrome (OFCS). Two of the children died from severe combined immunodeficiency (SCID) and had nonsense homozygous variants in PAX1. Functional studies were not performed.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.134 PAX1 Rebecca Foulger commented on gene: PAX1
Primary immunodeficiency or monogenic inflammatory bowel disease v2.134 POLE Rebecca Foulger changed review comment from: PMID:23230001: 1 large consanguineous family with FILS syndrome (including immunodeficiency) and homozygous single bp substitution in POLE1.; to: PMID:23230001: 1 large consanguineous family with FILS syndrome (all but 2 patients suffered from immunodeficiency) and homozygous single bp substitution in POLE1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.134 POLE Rebecca Foulger Classified gene: POLE as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.134 POLE Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following review by Zornitza Stark: >3 cases from 3 separate papers of individuals with biallelic POLE variants and a phenotype that includes immunodeficiency.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.134 POLE Rebecca Foulger Gene: pole has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.133 POLE Rebecca Foulger commented on gene: POLE: PMID:23230001: 1 large consanguineous family with FILS syndrome (including immunodeficiency) and homozygous single bp substitution in POLE1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.133 POLE Rebecca Foulger commented on gene: POLE: PMID:25948378 (Thiffault et al., 2015) report a girl with immune deficiency amongst her phenotypes. She was homozygous for a splice variant in POLE1 (c.4444 + 3A > G).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.133 POLE Rebecca Foulger commented on gene: POLE
Primary immunodeficiency or monogenic inflammatory bowel disease v2.133 DNASE1L3 Catherine Snow Classified gene: DNASE1L3 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.133 DNASE1L3 Catherine Snow Added comment: Comment on list classification: Identified by expert review as Green. PMID: 30008451 reports a SLE patient with (c.289_290delAC/p.Thr97Ilefs*2) in DNASE1L3 in 1 patient. This variant had previously been reported in PMID: 23666765 for Hypocomplementemic Urticarial Vasculitis (HUVs) - Systemic lupus erythematosus (SLE) develops in >50% of patients with HUVS
Primary immunodeficiency or monogenic inflammatory bowel disease v2.133 DNASE1L3 Catherine Snow Gene: dnase1l3 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.132 DBR1 Catherine Snow Classified gene: DBR1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.132 DBR1 Catherine Snow Added comment: Comment on list classification: DBR1 identified by expert review. DBR1 variants identified in unrelated patients from different ethnicities, each had brainstem infection due to herpes simplex virus 1 (HSV1), influenza virus, or norovirus
Primary immunodeficiency or monogenic inflammatory bowel disease v2.132 DBR1 Catherine Snow Gene: dbr1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.131 DEF6 Catherine Snow Classified gene: DEF6 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.131 DEF6 Catherine Snow Added comment: Comment on list classification: Comment on list classification: Promoted from Red to Amber based on expert review. Insufficient individuals for DEF6 to be rated as Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.131 DEF6 Catherine Snow Gene: def6 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.130 EFL1 Catherine Snow Classified gene: EFL1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.130 EFL1 Catherine Snow Added comment: Comment on list classification: EFL1 identified by expert review. Promoting from Grey to Green, sufficient number of unrelated individuals with Shwachman-Diamond like syndrome.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.130 EFL1 Catherine Snow Gene: efl1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.129 ERBIN Catherine Snow Classified gene: ERBIN as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.129 ERBIN Catherine Snow Added comment: Comment on list classification: Promoted from Red to Amber based on expert review. Only one family identified and functional studies so will remain Amber.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.129 ERBIN Catherine Snow Gene: erbin has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.128 ALPI Eleanor Williams Classified gene: ALPI as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.128 ALPI Eleanor Williams Added comment: Comment on list classification: Changing rating from red to amber. 2 cases reported plus some functional data.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.128 ALPI Eleanor Williams Gene: alpi has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.127 ALPI Eleanor Williams changed review comment from: Not associated with a phenotype in OMIM or Gene2Phenotype.

PMID: 29567797 - report ALPI mutations in two unrelated patients with severe intestinal inflammation and autoimmunity. WES was used. Patient 1 - non‐consanguineous parents. At 2 years old was diagnosed with coeliac disease from HLA-typing. At age 3 had recurrent abdominal pain, rectal bleeding and severe diarrhoea. Patient 2 - non‐consanguineous parents of Jewish Ashkenazi origin. Age 15 he was diagnosed with ileocolonic Crohn's disease. Compound heterozygous mutations in the ALPI gene were found in both patients. Three variants result in the substitution of residues highly conserved across species (A97T, A350V and A360) and one variant (Q439X) introducing a premature stop codon. Functional studies in HEK293T cells showed that all ALPI mutations were loss of function. ALPI expression was reduced in patients’ biopsies.; to: Not associated with a phenotype in OMIM or Gene2Phenotype.

PMID: 29567797 - Parlato et al 2018- report ALPI mutations in two unrelated patients with severe intestinal inflammation and autoimmunity. WES was used. Patient 1 - non‐consanguineous parents. At 2 years old was diagnosed with coeliac disease from HLA-typing. At age 3 had recurrent abdominal pain, rectal bleeding and severe diarrhoea. Patient 2 - non‐consanguineous parents of Jewish Ashkenazi origin. Age 15 he was diagnosed with ileocolonic Crohn's disease. Compound heterozygous mutations in the ALPI gene were found in both patients. Three variants result in the substitution of residues highly conserved across species (A97T, A350V and A360) and one variant (Q439X) introducing a premature stop codon. Functional studies in HEK293T cells showed that all ALPI mutations were loss of function. ALPI expression was reduced in patients’ biopsies.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.127 ALPI Eleanor Williams commented on gene: ALPI
Primary immunodeficiency or monogenic inflammatory bowel disease v2.127 ADAM17 Eleanor Williams Classified gene: ADAM17 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.127 ADAM17 Eleanor Williams Added comment: Comment on list classification: Changing rating from amber to green. 3 cases plus mouse model.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.127 ADAM17 Eleanor Williams Gene: adam17 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.126 ADAM17 Eleanor Williams Phenotypes for gene: ADAM17 were changed from inflammatory skin; Inflammatory skin and bowel disease, neonatal, 1; Inflammatory skin and bowel disease, neonatal 1, 614328; ADAM17 deficiency; Autoinflammatory Disorders; IBD-1; Early onset diarrhea and skin lesions to inflammatory skin; Inflammatory skin and bowel disease, neonatal, 1; Inflammatory skin and bowel disease, neonatal 1, 614328; ADAM17 deficiency; Autoinflammatory Disorders; IBD-1; Early onset diarrhea and skin lesions; Recurrent infections
Primary immunodeficiency or monogenic inflammatory bowel disease v2.125 ADAM17 Eleanor Williams Publications for gene: ADAM17 were set to 22010916; 28930861; 20603312; 32048120; 25171914; 11149563; 25058236; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.124 ADAM17 Eleanor Williams commented on gene: ADAM17
Primary immunodeficiency or monogenic inflammatory bowel disease v2.124 BCL11B Eleanor Williams changed review comment from: Associated with Immunodeficiency 49 #617237 (AD) in OMIM.

PMID: 29985992 - Lessel et al 2018 - identified de novo heterozygous germline mutations in BCL11B in nine unrelated patients, namely six frameshift, two nonsense and one missense mutation. A further patient inherited a heterozygous frameshift mutation, p.(Asp534Thrfs*29), transmitted from an affected mother with. All analysed individuals exhibited developmental delay and intellectual disability and a severe reduction of peripheral ILC2s and impaired T cell development, but no overt immune deficiency. Patient E:II-1 was the only patient with suspected immunodeficiency diagnosed upon newborn screening. Other de-novo variants were also detected in some patients.

PMID: 27959755 - Punwani et al 2016 - an infant with "leaky" SCID as well as craniofacial and dermal abnormalities and the absence of a corpus callosum. Exome sequencing revealed a heterozygous de novo missense mutation, p.N441K, in BCL11B. The mutant protein had dominant negative activity, which prevented the wild-type BCL11B to bind DNA, thereby arresting development of the T-cell lineage and disrupting hematopoietic stem-cell migration. bcl11ba-deficient zebrafish recapitulated the phenotype.; to: Associated with Immunodeficiency 49 #617237 (AD) in OMIM.

PMID: 29985992 - Lessel et al 2018 - identified de novo heterozygous germline mutations in BCL11B in nine unrelated patients, namely six frameshift, two nonsense and one missense mutation. A further patient inherited a heterozygous frameshift mutation, p.(Asp534Thrfs*29), transmitted from an affected mother with. All analysed individuals exhibited developmental delay and intellectual disability and a severe reduction of peripheral ILC2s and impaired T cell development, but no overt immune deficiency. Patient E:II-1, with a missense variant, was the only patient with suspected immunodeficiency diagnosed upon newborn screening. Other de-novo variants were also detected in some patients.

PMID: 27959755 - Punwani et al 2016 - an infant with "leaky" SCID as well as craniofacial and dermal abnormalities and the absence of a corpus callosum. Exome sequencing revealed a heterozygous de novo missense mutation, p.N441K, in BCL11B. The mutant protein had dominant negative activity, which prevented the wild-type BCL11B to bind DNA, thereby arresting development of the T-cell lineage and disrupting hematopoietic stem-cell migration. bcl11ba-deficient zebrafish recapitulated the phenotype.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.124 BCL11B Eleanor Williams commented on gene: BCL11B
Primary immunodeficiency or monogenic inflammatory bowel disease v2.124 BLOC1S6 Eleanor Williams changed review comment from: Provisionally associated with ?Hermansky-pudlak syndrome 9 #614171 (AR) in OMIM.
BLOC1S6 is also known as PLDN and HPS9.

PMID: 32245340 - Michaud et al 2020 - report 1 patient presenting with ocular features of albinism. Genetic analysis revealed two compound heterozygous variants in the BLOC1S6 gene. Extended hematological studies confirmed the platelet storage pool disease with absence of dense granules and abnormal platelet aggregation. (Abstract only accessed).

PMID: 22461475 - Badolato et al 2012 - report a northern Italian girl with oculocutaneous albinism, nystagmus, and normal neurologic development who presented with recurrent cutaneous infections but without hemorrhagic episodes. She had thrombocytopenia and leukopenia, with normal platelet aggregation. WES found a homozygous nonsense mutation, c.232C > T (p.Q78X) in PLDN (BLOC1S6). This variant was confirmed homozygous in the patient and heterozygous in her parents by Sanger sequencing, and was associated with absent PLDN protein expression

PMID: 26575419 - Yousaf et al 2016 - report a Pakistani family in which the proband had a nonsense mutation is the HPS9/PLDN gene (c.232C>T, p.Gln78*). The 4-year-old female patient reported here, had Oculocutaneous albinism, photophobia, nystagmus, prolonged bleeding and clotting times, which indicate platelet dysfunction.

PMID: 21665000 - Cullinane et al 2011 - RETRACTED PAPER - report 1 9-month old male patient of Indian ancestry with a homozygous c.232C>T; p.Gln78Och mutation and HPS-like phenotype. This paper has been retracted due to falsified and/or fabricated gel images which represent expression of PLDN in fibroblasts and melanocytes.

Summary: 3 reports + retracted paper. 2 out of the 3 patients had abnormal platelet aggregation.; to: Provisionally associated with ?Hermansky-pudlak syndrome 9 #614171 (AR) in OMIM.
BLOC1S6 is also known as PLDN and HPS9.

PMID: 32245340 - Michaud et al 2020 - report 1 patient presenting with ocular features of albinism. Genetic analysis revealed two compound heterozygous variants in the BLOC1S6 gene. Extended hematological studies confirmed the platelet storage pool disease with absence of dense granules and abnormal platelet aggregation. (Abstract only accessed).

PMID: 22461475 - Badolato et al 2012 - report a northern Italian girl with oculocutaneous albinism, nystagmus, and normal neurologic development who presented with recurrent cutaneous infections but without hemorrhagic episodes. She had thrombocytopenia and leukopenia, with normal platelet aggregation. WES found a homozygous nonsense mutation, c.232C > T (p.Q78X) in PLDN (BLOC1S6). This variant was confirmed homozygous in the patient and heterozygous in her parents by Sanger sequencing, and was associated with absent PLDN protein expression

PMID: 26575419 - Yousaf et al 2016 - report a Pakistani family in which the proband had a nonsense mutation is the HPS9/PLDN gene (c.232C>T, p.Gln78*). The 4-year-old female patient reported here, had Oculocutaneous albinism, photophobia, nystagmus, prolonged bleeding and clotting times, which indicate platelet dysfunction.

PMID: 21665000 - Cullinane et al 2011 - RETRACTED PAPER - report 1 9-month old male patient of Indian ancestry with a homozygous c.232C>T; p.Gln78Och mutation and HPS-like phenotype. This paper has been retracted due to falsified and/or fabricated gel images which represent expression of PLDN in fibroblasts and melanocytes.

Summary: 3 reports + retracted paper. 2 out of the 3 patients had abnormal platelet aggregation. The 3rd had thrombocytopenia and leukopenia, with normal platelet aggregation.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.124 BLOC1S6 Eleanor Williams Publications for gene: BLOC1S6 were set to 22461475,20301464,26575419
Primary immunodeficiency or monogenic inflammatory bowel disease v2.123 BLOC1S6 Eleanor Williams reviewed gene: BLOC1S6: Rating: ; Mode of pathogenicity: None; Publications: 32245340, 22461475, 26575419, 21665000; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.123 C17orf62 Eleanor Williams Classified gene: C17orf62 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.123 C17orf62 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green. 6 Icelandic related cases with same variant, another variant identified in Saudia Arabian individual with related phenotype. Mouse model and functional studies support the role of this gene in Chronic granulomatous disease
Primary immunodeficiency or monogenic inflammatory bowel disease v2.123 C17orf62 Eleanor Williams Gene: c17orf62 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.122 C17orf62 Eleanor Williams Phenotypes for gene: C17orf62 were changed from Autosomal recessive CGD EROS; Congenital defects of phagocyte number or function to Autosomal recessive CGD EROS; Congenital defects of phagocyte number or function; Chronic granulomatous disease
Primary immunodeficiency or monogenic inflammatory bowel disease v2.121 C17orf62 Eleanor Williams Publications for gene: C17orf62 were set to 30312704; 30361506; 32086639; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.120 C17orf62 Eleanor Williams commented on gene: C17orf62
Primary immunodeficiency or monogenic inflammatory bowel disease v2.120 CIB1 Eleanor Williams Classified gene: CIB1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.120 CIB1 Eleanor Williams Added comment: Comment on list classification: Promoting this gene from Grey to Green. There are more than 3 cases with plausible disease causing variants.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.120 CIB1 Eleanor Williams Gene: cib1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.119 CIB1 Eleanor Williams reviewed gene: CIB1: Rating: ; Mode of pathogenicity: None; Publications: 30068544; Phenotypes: Epidermodysplasia verruciformis 3 #618267; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.119 IL18BP Ivone Leong Classified gene: IL18BP as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.119 IL18BP Ivone Leong Added comment: Comment on list classification: Gene given Red gene status based on expert review. This gene is also found in the IUIS 2019 paper (PMID: 31953710)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.119 IL18BP Ivone Leong Gene: il18bp has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.118 IL18BP Ivone Leong Publications for gene: IL18BP were set to 31213488
Primary immunodeficiency or monogenic inflammatory bowel disease v2.117 IL12RB2 Ivone Leong Publications for gene: IL12RB2 were set to 30578351; 31953710
Primary immunodeficiency or monogenic inflammatory bowel disease v2.117 IL12RB2 Ivone Leong Publications for gene: IL12RB2 were set to 30578351
Primary immunodeficiency or monogenic inflammatory bowel disease v2.116 IL12RB2 Ivone Leong Classified gene: IL12RB2 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.116 IL12RB2 Ivone Leong Added comment: Comment on list classification: Gene given Red gene status based on expert review. This gene is also found in the IUIS 2019 paper (PMID: 31953710)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.116 IL12RB2 Ivone Leong Gene: il12rb2 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.115 IL23R Ivone Leong Classified gene: IL23R as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.115 IL23R Ivone Leong Added comment: Comment on list classification: Gene given Red gene status based on expert review. This gene is also found in the IUIS 2019 paper (PMID: 31953710)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.115 IL23R Ivone Leong Gene: il23r has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.114 IL23R Ivone Leong Publications for gene: IL23R were set to 30578351
Primary immunodeficiency or monogenic inflammatory bowel disease v2.113 POLR3F Ivone Leong Classified gene: POLR3F as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.113 POLR3F Ivone Leong Added comment: Comment on list classification: Gene given Red gene status based on expert review. This gene is also found in the IUIS 2019 paper (PMID: 31953710)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.113 POLR3F Ivone Leong Gene: polr3f has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.112 POLR3F Ivone Leong Publications for gene: POLR3F were set to 30211253
Primary immunodeficiency or monogenic inflammatory bowel disease v2.111 IRF4 Ivone Leong Publications for gene: IRF4 were set to 29537367
Primary immunodeficiency or monogenic inflammatory bowel disease v2.110 IRF4 Ivone Leong Classified gene: IRF4 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.110 IRF4 Ivone Leong Added comment: Comment on list classification: Gene given Red gene status based on expert review. This gene is also found in the IUIS 2019 paper (PMID: 31953710)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.110 IRF4 Ivone Leong Gene: irf4 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.109 CD247 Ivone Leong Publications for gene: CD247 were set to 16672702; 26690594; 17170122; 27555457; 25688246; https://doi.org/10.14785/lpsn-2014-0012
Primary immunodeficiency or monogenic inflammatory bowel disease v2.108 SLC7A7 Ivone Leong Classified gene: SLC7A7 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.108 SLC7A7 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Green. SLC7A7 causes lysinuric protein intolerance (LPI) and immunodeficiency is one of the phenotypes. There are >3 unrelated cases reported on OMIM.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.108 SLC7A7 Ivone Leong Gene: slc7a7 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.107 RELA Ivone Leong Classified gene: RELA as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.107 RELA Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber based on expert review. As there are only 2 cases and because the phenotype are slightly different, this gene will be rated Amber until more cases emerge.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.107 RELA Ivone Leong Gene: rela has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.106 RAC2 Ivone Leong Classified gene: RAC2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.106 RAC2 Ivone Leong Added comment: Comment on list classification: Promoted from Amber to Green based on expert review (Zornitza Stark) and evidence.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.106 RAC2 Ivone Leong Gene: rac2 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.105 RAC2 Ivone Leong Publications for gene: RAC2 were set to 21167572; 30654050; 30723080; 31071452; 25512081; 10758162; 31382036; 10961859
Primary immunodeficiency or monogenic inflammatory bowel disease v2.104 POLD1 Ivone Leong Classified gene: POLD1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.104 POLD1 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber based on expert review and evidence.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.104 POLD1 Ivone Leong Gene: pold1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.103 HYOU1 Ivone Leong Phenotypes for gene: HYOU1 were changed from Hypoglycemia, inflammatory complications; Congenital defects of phagocyte number or function to Hypoglycemia, inflammatory complications; Congenital defects of phagocyte number or function; Immunodeficiency 59 and hypoglycemia, 233600
Primary immunodeficiency or monogenic inflammatory bowel disease v2.102 HYOU1 Ivone Leong Publications for gene: HYOU1 were set to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.101 MKL1 Ivone Leong Classified gene: MKL1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.101 MKL1 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber based on expert review and additional of second case.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.101 MKL1 Ivone Leong Gene: mkl1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.100 MKL1 Ivone Leong Publications for gene: MKL1 were set to 32048120; 26224645; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.99 POLD2 Ivone Leong Phenotypes for gene: POLD2 were changed from Polymerase d 2 deficiency; Recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability; Immunodeficiencies affecting cellular and humoral immunity to Polymerase d 2 deficiency; Recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability; Immunodeficiencies affecting cellular and humoral immunity; Low CD4 T cells; Low B cells, normal maturation
Primary immunodeficiency or monogenic inflammatory bowel disease v2.98 POLR3A Ivone Leong Classified gene: POLR3A as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.98 POLR3A Ivone Leong Added comment: Comment on list classification: Amber rating given based on expert review.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.98 POLR3A Ivone Leong Gene: polr3a has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.97 POLR3C Ivone Leong Classified gene: POLR3C as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.97 POLR3C Ivone Leong Added comment: Comment on list classification: Rating given based on expert review.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.97 POLR3C Ivone Leong Gene: polr3c has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.96 RNF31 Ivone Leong Classified gene: RNF31 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.96 RNF31 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber based on expert review and evidence of a second case.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.96 RNF31 Ivone Leong Gene: rnf31 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.95 RNF31 Ivone Leong Publications for gene: RNF31 were set to 32048120; 26008899; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.94 SEC61A1 Ivone Leong Publications for gene: SEC61A1 were set to 28782633; 32086639; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.93 SH3BP2 Ivone Leong Publications for gene: SH3BP2 were set to 29669173; 22640988; 32048120; 28914985; 11381256; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.92 SH3KBP1 Ivone Leong Publications for gene: SH3KBP1 were set to 32086639; 32048120; 29636373
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 Added comment: Comment on list classification: Promoted from Red to Green based on expert reviews and 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 v2.90 PARP1 Sarah Leigh gene: PARP1 was added
gene: PARP1 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: PARP1 was set to Unknown
Publications for gene: PARP1 were set to 31915279
Review for gene: PARP1 was set to RED
Added comment: PARP1 Enhances Influenza A Virus Propagation by Facilitating Degradation of Host Type I Interferon Receptor. Therefore, activiation of PARP1 could promote Influenza infection, by interfering with the IFNAR1.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.89 RECQL4 Sarah Leigh Classified gene: RECQL4 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.89 RECQL4 Sarah Leigh Gene: recql4 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.88 RECQL4 Sarah Leigh Publications for gene: RECQL4 were set to 16630167
Primary immunodeficiency or monogenic inflammatory bowel disease v2.87 RECQL4 Sarah Leigh Classified gene: RECQL4 as Amber List (moderate 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 v2.87 RECQL4 Sarah Leigh Gene: recql4 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.86 IL18BP Zornitza Stark gene: IL18BP was added
gene: IL18BP was added to Primary immunodeficiency. Sources: Expert list
Mode of inheritance for gene: IL18BP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL18BP were set to 31213488
Phenotypes for gene: IL18BP were set to {?Hepatitis, fulminant viral, susceptibility to} 618549
Review for gene: IL18BP was set to RED
Added comment: Single individual reported with homozygous 40bp deletion in this gene and fulminant Hep A hepatitis.
Sources: Expert list
Primary immunodeficiency or monogenic inflammatory bowel disease v2.86 IRF4 Zornitza Stark gene: IRF4 was added
gene: IRF4 was added to Primary immunodeficiency. Sources: Expert list
Mode of inheritance for gene: IRF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IRF4 were set to 29537367
Phenotypes for gene: IRF4 were set to Whipple's disease; [Skin/hair/eye pigmentation, variation in, 8] 611724
Review for gene: IRF4 was set to RED
Added comment: Single family reported with Whipple's disease and a rare missense in IRF4. Younger healthy carrier members of the family had the same variant as older affected individuals, leading the authors to speculate about age-dependent penetrance. GWAS indicates separate link with skin/hair/eye pigmentation.
Sources: Expert list
Primary immunodeficiency or monogenic inflammatory bowel disease v2.86 POLR3F Zornitza Stark gene: POLR3F was added
gene: POLR3F was added to Primary immunodeficiency. Sources: Expert list
Mode of inheritance for gene: POLR3F was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR3F were set to 30211253
Phenotypes for gene: POLR3F were set to Severe VZV infection
Review for gene: POLR3F was set to RED
Added comment: Missense variant identified in a pair of monozygotic twins. Variant was paternally inherited.
Sources: Expert list
Primary immunodeficiency or monogenic inflammatory bowel disease v2.86 IL23R Zornitza Stark gene: IL23R was added
gene: IL23R was added to Primary immunodeficiency. Sources: Expert list
Mode of inheritance for gene: IL23R was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL23R were set to 30578351
Phenotypes for gene: IL23R were set to Susceptibility to mycobacteria and Salmonella
Review for gene: IL23R was set to RED
Added comment: Single family reported.
Sources: Expert list
Primary immunodeficiency or monogenic inflammatory bowel disease v2.86 IL12RB2 Zornitza Stark gene: IL12RB2 was added
gene: IL12RB2 was added to Primary immunodeficiency. Sources: Expert list
Mode of inheritance for gene: IL12RB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL12RB2 were set to 30578351
Phenotypes for gene: IL12RB2 were set to Susceptibility to mycobacteria and Salmonella
Review for gene: IL12RB2 was set to RED
Added comment: Single individual reported, some functional data.
Sources: Expert list
Primary immunodeficiency or monogenic inflammatory bowel disease v2.86 SMARCD2 Ivone Leong Phenotypes for gene: SMARCD2 were changed from Neutropenia, developmental aberrations, skeletal abnormalities, hematopoietic stem cells, myelodysplasia; Congenital defects of phagocyte number or function to Neutropenia, developmental aberrations, skeletal abnormalities, hematopoietic stem cells, myelodysplasia; Congenital defects of phagocyte number or function; Specific granule deficiency 2, 617475
Primary immunodeficiency or monogenic inflammatory bowel disease v2.85 SMARCD2 Ivone Leong Classified gene: SMARCD2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.85 SMARCD2 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Green based on expert review.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.85 SMARCD2 Ivone Leong Gene: smarcd2 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.84 SMARCD2 Ivone Leong Publications for gene: SMARCD2 were set to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.83 SRP54 Ivone Leong Classified gene: SRP54 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.83 SRP54 Ivone Leong Added comment: Comment on list classification: Promoted Red to Green based on expert review and evidence.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.83 SRP54 Ivone Leong Gene: srp54 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.82 SRP54 Ivone Leong Phenotypes for gene: SRP54 were changed from Congenital defects of phagocyte number or function; Schwachman Diamond features to Congenital defects of phagocyte number or function; Schwachman Diamond features; Neutropenia, severe congenital, 8, autosomal dominant, 618752
Primary immunodeficiency or monogenic inflammatory bowel disease v2.81 TFRC Ivone Leong Classified gene: TFRC as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.81 TFRC Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber based on expert review and evidence.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.81 TFRC Ivone Leong Gene: tfrc has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.80 TFRC Ivone Leong Phenotypes for gene: TFRC were changed from Recurrent infections, neutropenia, thrombocytopenia; Recurrent infections, thrombocytopenia; Immunodeficiencies affecting cellular and humoral immunity to Recurrent infections, neutropenia, thrombocytopenia; Recurrent infections, thrombocytopenia; Immunodeficiencies affecting cellular and humoral immunity; Immunodeficiency 46, 616740; T cells: normal number, poor proliferation; B cells: normal number, low memory B cells; recurrent infections, neutorpaenia; thrombocytopaenia
Primary immunodeficiency or monogenic inflammatory bowel disease v2.79 TFRC Ivone Leong Publications for gene: TFRC were set to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.78 TGFB1 Ivone Leong Classified gene: TGFB1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.78 TGFB1 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber based on expert review and evidence.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.78 TGFB1 Ivone Leong Gene: tgfb1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.77 NFE2L2 Ivone Leong Classified gene: NFE2L2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.77 NFE2L2 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Green based on exper review.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.77 NFE2L2 Ivone Leong Gene: nfe2l2 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.76 NFE2L2 Ivone Leong Phenotypes for gene: NFE2L2 were changed from white matter cerebral lesions, increased level of homocysteine; Recurrent respiratory and skin infections, growth retardation, , developmental delay; Immunodeficiency, developmental delay, and hypohomocysteinemia, 617744; NFE2L2 GOF; increased expression of stress response genes; Combined immunodeficiencies with associated or syndromic features to white matter cerebral lesions, increased level of homocysteine; Recurrent respiratory and skin infections, growth retardation, , developmental delay; Immunodeficiency, developmental delay, and hypohomocysteinemia, 617744; NFE2L2 GOF; increased expression of stress response genes; Combined immunodeficiencies with associated or syndromic features; mmunodeficiency, developmental delay, and hypohomocysteinemia, 617744; Recurrent respiratory and skin infection; Growth retardation; Developmental delay, borderline ID; White matter cerebral lesions
Primary immunodeficiency or monogenic inflammatory bowel disease v2.75 TNFRSF9 Ivone Leong Classified gene: TNFRSF9 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.75 TNFRSF9 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Green based on expert review and evidence.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.75 TNFRSF9 Ivone Leong Gene: tnfrsf9 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.74 TOP2B Ivone Leong Classified gene: TOP2B as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.74 TOP2B Ivone Leong Added comment: Comment on list classification: Promoted from Red to Green based on expert review and evidence.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.74 TOP2B Ivone Leong Gene: top2b has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.73 TRAF3IP2 Ivone Leong Classified gene: TRAF3IP2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.73 TRAF3IP2 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber based on expert review and evidence.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.73 TRAF3IP2 Ivone Leong Gene: traf3ip2 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.72 TRIM22 Ivone Leong Classified gene: TRIM22 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.72 TRIM22 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Green based on expert review and evidence.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.72 TRIM22 Ivone Leong Gene: trim22 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.71 TRIM22 Ivone Leong Phenotypes for gene: TRIM22 were changed from Autoinflammatory Disorders; Granulomatous colitis; Diseases of Immune Dysregulation; TRIM22 to Autoinflammatory Disorders; Granulomatous colitis; Diseases of Immune Dysregulation; TRIM22; Inflammatory bowel disease
Primary immunodeficiency or monogenic inflammatory bowel disease v2.70 USP18 Ivone Leong Classified gene: USP18 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.70 USP18 Ivone Leong Added comment: Comment on list classification: Promoted from Amber to Green based on expert reviews.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.70 USP18 Ivone Leong Gene: usp18 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.69 TRAF3IP2 Ivone Leong Publications for gene: TRAF3IP2 were set to 32048120; 24120361; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.68 USP18 Ivone Leong Publications for gene: USP18 were set to 32048120; 27325888; 31272490; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.67 WDR1 Ivone Leong Classified gene: WDR1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.67 WDR1 Ivone Leong Added comment: Comment on list classification: Promoted from Amber to Green based on expert review.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.67 WDR1 Ivone Leong Gene: wdr1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.66 WDR1 Ivone Leong Publications for gene: WDR1 were set to 32048120; 27557945; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.65 ZNF341 Ivone Leong Classified gene: ZNF341 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.65 ZNF341 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Green based on expert reviews.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.65 ZNF341 Ivone Leong Gene: znf341 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.64 PIK3CD Ivone Leong Added comment: Comment on mode of inheritance: Updated MOI from Monoallelic to Both Monoallelic and biallelic based on expert review and evidence provided by Zornitza Stark (Australian Genomics).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.64 PIK3CD Ivone Leong Mode of inheritance for gene: PIK3CD was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.63 PIK3CD Ivone Leong Publications for gene: PIK3CD were set to 24165795; 24136356; 29226301
Primary immunodeficiency or monogenic inflammatory bowel disease v2.62 TCF3 Ivone Leong Added comment: Comment on mode of inheritance: Updated MOI from Monoallelic to Both Monoallelic and biallelic based on expert review and evidence provided by Zornitza Stark (Australian Genomics).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.62 TCF3 Ivone Leong Mode of inheritance for gene: TCF3 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 v2.61 STAT5B Ivone Leong Publications for gene: STAT5B were set to 13679528; 16920911; 15827093; 16787985; 17030597; 17389811; 20538865; 26703237
Primary immunodeficiency or monogenic inflammatory bowel disease v2.60 STAT5B Ivone Leong Added comment: Comment on mode of inheritance: Changed MOI from Biallelic to Both Monoallelic and biallelic based on expert review and evidence provided by Zornitza Stark (Australian Genomics). It should be noted that the AD has a dominant-negative effect.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.60 STAT5B Ivone Leong Mode of inheritance for gene: STAT5B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.59 TCF3 Ivone Leong Publications for gene: TCF3 were set to 24216514; 28532655; 29114388
Primary immunodeficiency or monogenic inflammatory bowel disease v2.58 BCL10 Ivone Leong Classified gene: BCL10 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.58 BCL10 Ivone Leong Added comment: Comment on list classification: Based on recent expert reviews and evidence, it has been decided that there is now enough evidence to support a gene-disease association. Therefore, this gene has been promoted from Amber to Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.58 BCL10 Ivone Leong Gene: bcl10 has been classified as Green List (High Evidence).
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 Added comment: Comment on list classification: Not associated with phenotype in OMIM (lasted edited 01/27/2017) or in Gen2Phen. PMID 31636267 reports a biallelic nonsense variant (p.R688*), in a case with immune dysregulation syndrome
characterized by severe hyperinflammation in a consanguineous family. The association of this variant with the phenotype is supported by functional studies and mouse model (PMID 15917799).
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 v2.55 PSMB10 Sarah Leigh Classified gene: PSMB10 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.55 PSMB10 Sarah Leigh Added comment: Comment on list classification: Not associated with phenotype in OMIM (last edited on 06/25/2007) or in Gen2Phen. PMID 31783057 reports a case of Proteasome-associated autoinflammatory syndrome in an infant with a biallelic variant (c.41T>C, p.Phe14Ser), together with supporting functional studies.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.55 PSMB10 Sarah Leigh Gene: psmb10 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.54 PSMB10 Sarah Leigh Phenotypes for gene: PSMB10 were changed from Proteasome-associated autoinflammatory syndrome to Proteasome-associated autoinflammatory syndrome (PRAAS)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.53 NFKBID Sarah Leigh Classified gene: NFKBID as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.53 NFKBID Sarah Leigh Added comment: Comment on list classification: Not associated with phenotype in OMIM or in Gen2Phen. The only variants are structural rearrangements that include NFKBID amongst other genes. PMID 26973645 reports "heterozygous mutation in the nfkbid gene encoding the atypical IκB protein IκBNS led to reduced steady state IgM and IgG3 antibody levels and impaired response to vaccination with TI-2 antigens in mice". Thus, variants in human NFKBID may also result in reduced levels of IgM and IgG3 and compromized vaccination responses.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.53 NFKBID Sarah Leigh Gene: nfkbid has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.52 NFKBID Sarah Leigh Publications for gene: NFKBID were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 STAT5B Zornitza Stark reviewed gene: STAT5B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29844444; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 TCF3 Zornitza Stark reviewed gene: TCF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30063982; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 PIK3CD Zornitza Stark reviewed gene: PIK3CD: Rating: GREEN; Mode of pathogenicity: None; Publications: 31073077; Phenotypes: Severe bacterial infections, autoimmunity; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 REL Zornitza Stark reviewed gene: REL: Rating: RED; Mode of pathogenicity: None; Publications: 31103457; Phenotypes: Combined immunodeficiency, T cells: normal, decreased memory CD4, poor proliferation, B cells: low, mostly naive, few switched memory B cells, impaired proliferation, Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms, Defective innate immunity; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 ZNF341 Zornitza Stark reviewed gene: ZNF341: Rating: GREEN; Mode of pathogenicity: None; Publications: 29907691, 29907690; Phenotypes: Hyper-IgE recurrent infection syndrome 3, autosomal recessive, MIM# 618282, Mild facial dysmorphism, Early onset eczema, Recurrent bacterial skin infections, abscesses, Recurrent respiratory infections, lung abscesses and pneumothoraces, Hyperextensible joints, bone fractures, retention of primary teeth; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 WDR1 Zornitza Stark edited their review of gene: WDR1: Changed phenotypes: Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia, Neutropaenia, Poor wound healing, Severe stomatitis, Neutrophil nuclei herniate
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 WDR1 Zornitza Stark reviewed gene: WDR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27994071, 27557945, 29751004; Phenotypes: Autoinflammatory periodic fever, neutrophil dysfunction, immunodeficiency, and thrombocytopenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 USP18 Zornitza Stark reviewed gene: USP18: Rating: GREEN; Mode of pathogenicity: None; Publications: 31940699, 27325888; Phenotypes: Pseudo-TORCH syndrome 2, MIM# 617397; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 TRIM22 Zornitza Stark reviewed gene: TRIM22: Rating: GREEN; Mode of pathogenicity: None; Publications: 26836588; Phenotypes: Inflammatory bowel disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 TRAF3IP2 Zornitza Stark reviewed gene: TRAF3IP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24120361, 31292894, 20660351; Phenotypes: Candidiasis, familial, 8, MIM# 615527; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 TOP2B Zornitza Stark reviewed gene: TOP2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 31409799; Phenotypes: Antibody deficiency, Recurrent infections, Facial dysmorphism, Limb anomalies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 TNFRSF9 Zornitza Stark reviewed gene: TNFRSF9: Rating: GREEN; Mode of pathogenicity: None; Publications: 30872117, 31501153; Phenotypes: EBV lymphoproliferation, B-cell lymphoma, Chronic active EBV infection; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 TNFRSF13B Zornitza Stark changed review comment from: Agree this gene is difficult to categorise. We have decided to include the gene in our panels, but report only the specific variants for which there is published evidence, and to report them as contributory rather than solely causative.; to: 2018: Agree this gene is difficult to categorise. We have decided to include the gene in our panels, but report only the specific variants for which there is published evidence, and to report them as contributory rather than solely causative.

2020: Variants in this gene do not readily fit the monogenic rare disease paradigm, but nevertheless there is evidence they make a contribution to CVID pathogenesis. We have 'whitelisted' specific variants and are reporting them separately as susceptibility alleles. It is unlikely that further evidence will alter this interpretation, this is more of a question about reporting policy.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 NFE2L2 Zornitza Stark reviewed gene: NFE2L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29018201; Phenotypes: Immunodeficiency, developmental delay, and hypohomocysteinemia, MIM# 617744, Recurrent respiratory and skin infection, Growth retardation, Developmental delay, borderline ID, White matter cerebral lesions; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 TGFB1 Zornitza Stark reviewed gene: TGFB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29483653; Phenotypes: Inflammatory bowel disease, immunodeficiency, and encephalopathy MIM# 618213; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 TFRC Zornitza Stark reviewed gene: TFRC: Rating: AMBER; Mode of pathogenicity: None; Publications: 26642240; Phenotypes: Immunodeficiency 46, MIM# 616740, T cells: normal number, poor proliferation, B cells: normal number, low memory B cells, recurrent infections, neutorpaenia, thrombocytopaenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 SRP54 Zornitza Stark reviewed gene: SRP54: Rating: GREEN; Mode of pathogenicity: None; Publications: 29914977, 28972538; Phenotypes: Neutropenia, severe congenital, 8, autosomal dominant, MIM# 618752; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 SPPL2A Zornitza Stark reviewed gene: SPPL2A: Rating: AMBER; Mode of pathogenicity: None; Publications: 30127434; Phenotypes: Susceptibility to mycobacteria and Salmonella; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 SMARCD2 Zornitza Stark reviewed gene: SMARCD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28369036, 28369034; Phenotypes: Specific granule deficiency 2, MIM# 617475, Neutropaenia, Neurodevelopmental abnormalities in some, Myelodysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 SLC7A7 Zornitza Stark reviewed gene: SLC7A7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lysinuric protein intolerance, MIM# 222700, Hyper-inflammatory response of macrophages, Normal NK cell function, Lysinuric protein intolerance, Bleeding tendency, Alverolar proteinosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
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 v2.51 SH3KBP1 Zornitza Stark reviewed gene: SH3KBP1: Rating: RED; Mode of pathogenicity: None; Publications: 29636373, 21708930; Phenotypes: Immunodeficiency 61, MIM# 300310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 SH3BP2 Zornitza Stark reviewed gene: SH3BP2: Rating: RED; Mode of pathogenicity: None; Publications: 26152156, 25705883, 25470448, 25220465; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 SEC61A1 Zornitza Stark reviewed gene: SEC61A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27392076, 28782633; Phenotypes: Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056, Hypogammaglobulinaemia, Severe recurrent respiratory tract infections; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 RNF31 Zornitza Stark reviewed gene: RNF31: Rating: AMBER; Mode of pathogenicity: None; Publications: 26008899, 30936877; Phenotypes: Immune deficiency, Autoinflammation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 RELA Zornitza Stark reviewed gene: RELA: Rating: AMBER; Mode of pathogenicity: None; Publications: 28600438, 29305315; Phenotypes: Mucocutaneous ulceration, chronic, MIM# 618287, Impaired NFkB activation, reduced production of inflammatory cytokines, autoimmune cytopaenias; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 RAC2 Zornitza Stark edited their review of gene: RAC2: Changed phenotypes: SCID, recurrent bacterial and viral infections, lymphoproliferation, neutropaenia, reticular dysgenesis, deafness, selective IgA deficiency, Reduced Ab responses following vaccination, Neutrophil immunodeficiency syndrome, MIM# 608203, Common variable immunodeficiency
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 RAC2 Zornitza Stark reviewed gene: RAC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32198141, 31919089, 31382036, 31071452, 30723080, 30654050, 25512081; Phenotypes: SCID, recurrent bacterial and viral infections, lymphoproliferation, neutropaenia, reticular dysgenesis, deafness, selective IgA deficiency, Reduced Ab responses following vaccination; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 PSMG2 Zornitza Stark reviewed gene: PSMG2: Rating: RED; Mode of pathogenicity: None; Publications: 30664889; Phenotypes: CANDLE syndrome, Chronic atypical neutrophilic dermatitis with lipodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 POLR3C Zornitza Stark gene: POLR3C was added
gene: POLR3C was added to Primary immunodeficiency. Sources: Expert list
Mode of inheritance for gene: POLR3C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR3C were set to 28783042
Phenotypes for gene: POLR3C were set to Severe VZV infection
Review for gene: POLR3C was set to AMBER
Added comment: One individual with POLR3C variant and another individual with both POL3RA and POL3RC variants.
Sources: Expert list
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 POLR3A Zornitza Stark gene: POLR3A was added
gene: POLR3A was added to Primary immunodeficiency. Sources: Expert list
Mode of inheritance for gene: POLR3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR3A were set to 28783042; 29728610
Phenotypes for gene: POLR3A were set to Severe VZV infection
Review for gene: POLR3A was set to AMBER
Added comment: Two individuals with mono allelic POLR3A variants and another individual with both POLR3A and a POLR3C variants reported.
Sources: Expert list
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 POLE Zornitza Stark reviewed gene: POLE: Rating: GREEN; Mode of pathogenicity: None; Publications: 30503519, 23230001, 25948378; Phenotypes: FILS syndrome, MIM# 615139, IMAGE-I syndrome, MIM# 618336; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 POLD2 Zornitza Stark reviewed gene: POLD2: Rating: RED; Mode of pathogenicity: None; Publications: 31449058; Phenotypes: Low CD4 T cells, Low B cells, normal maturation, recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 POLD1 Zornitza Stark reviewed gene: POLD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31629014, 31449058; Phenotypes: Low CD4 T cells, Low B cells, normal maturation, recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 PAX1 Zornitza Stark gene: PAX1 was added
gene: PAX1 was added to Primary immunodeficiency. Sources: Expert list
Mode of inheritance for gene: PAX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAX1 were set to 32111619
Phenotypes for gene: PAX1 were set to Syndromic SCID; dysmorphism; ear abnormalities; otofaciocervical syndrome
Review for gene: PAX1 was set to GREEN
gene: PAX1 was marked as current diagnostic
Added comment: 6 individuals from three unrelated families.
Sources: Expert list
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 OAS1 Zornitza Stark reviewed gene: OAS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29455859; Phenotypes: infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 NOP10 Zornitza Stark reviewed gene: NOP10: Rating: RED; Mode of pathogenicity: None; Publications: 17507419; Phenotypes: Dyskeratosis congenita, autosomal recessive 1, MIM#224230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 NLRP1 Zornitza Stark reviewed gene: NLRP1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27965258, 31484767, 27662089; Phenotypes: Autoinflammation with arthritis and dyskeratosis, MIM# 617388, Palmoplantar carcinoma, multiple self-healing 615225, Recurrent respiratory papillomatosis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 MYO5B Zornitza Stark reviewed gene: MYO5B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Microvillus inclusion disease, MIM# 251850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 MKL1 Zornitza Stark reviewed gene: MKL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 32128589, 26224645; Phenotypes: Neutropaenia with combined immune deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 LIG1 Zornitza Stark reviewed gene: LIG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30395541; Phenotypes: Combined immunodeficiency, Lymphopaenia, Hypogammaglobulinaemia, Recurrent bacterial and viral infections, Growth retardation, Sun sensitivity, radiation sensitivity, Macrocytosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 PSMA3 Abdelazeem Elhabyan reviewed gene: PSMA3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 PSMA3 Abdelazeem Elhabyan Deleted their review
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 PSMA3 Abdelazeem Elhabyan reviewed gene: PSMA3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 IRF9 Zornitza Stark reviewed gene: IRF9: Rating: AMBER; Mode of pathogenicity: None; Publications: 30826365, 30143481; Phenotypes: Immunodeficiency 65, susceptibility to viral infections 618648; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 IL6ST Zornitza Stark reviewed gene: IL6ST: Rating: GREEN; Mode of pathogenicity: None; Publications: 32207811, 28747427, 30309848, 12370259, 16041381, 31914175; Phenotypes: Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523, Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response., Hyper-IgE syndrome, autosomal dominant; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 IL6R Zornitza Stark reviewed gene: IL6R: Rating: AMBER; Mode of pathogenicity: None; Publications: 31235509; Phenotypes: Recurrent pyogenic infections, cold abscesses, High circulating IL-6 levels, High IgE; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 IL2RB Zornitza Stark reviewed gene: IL2RB: Rating: GREEN; Mode of pathogenicity: None; Publications: 31040184, 31040185; Phenotypes: Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM# 618495, Lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune haemolytic anaemia, dermatitis, enteropathy, hypergammaglobulinaemia, recurrent viral (EBV, CMV) infections; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 IL17F Zornitza Stark reviewed gene: IL17F: Rating: RED; Mode of pathogenicity: None; Publications: 21350122; Phenotypes: Candidiasis, familial, 6, autosomal dominant, MIM# 613956; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 ICOSLG Zornitza Stark reviewed gene: ICOSLG: Rating: AMBER; Mode of pathogenicity: None; Publications: 31532372, 30498080; Phenotypes: Combined immunodeficiency, recurrent bacterial and viral infections, neutropaenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 HYOU1 Zornitza Stark reviewed gene: HYOU1: Rating: RED; Mode of pathogenicity: None; Publications: 27913302; Phenotypes: Immunodeficiency 59 and hypoglycemia, MIM# 233600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 HAVCR2 Zornitza Stark reviewed gene: HAVCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30374066, 30792187; Phenotypes: T-cell lymphoma, subcutaneous panniculitis-like, MIM# 618398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 FCHO1 Zornitza Stark reviewed gene: FCHO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32098969, 30822429; Phenotypes: Combined immunodeficiency, T cells: low, poor proliferation, B cells: normal number, Recurrent infections (viral, mycobacteria, bacterial, fungal), lymphoproliferation, Failure to thrive, Increased activation-induced T-cell death, Defective clathrin-mediated endocytosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 ERBIN Zornitza Stark reviewed gene: ERBIN: Rating: AMBER; Mode of pathogenicity: None; Publications: 28126831; Phenotypes: Recurrent respiratory infections, Susceptibility to S.aureus, Eczema, Hyperextensible joints, Scoliosis, Arterial dilatation in some; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 EFL1 Zornitza Stark gene: EFL1 was added
gene: EFL1 was added to Primary immunodeficiency. Sources: Expert list
Mode of inheritance for gene: EFL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EFL1 were set to 28331068; 31151987
Phenotypes for gene: EFL1 were set to Shwachman-Diamond syndrome 2, MIM# 617941
Review for gene: EFL1 was set to GREEN
gene: EFL1 was marked as current diagnostic
Added comment: Six unrelated families reported, two had the same homozygous variant, one family single variant plus 'expression defect' identified. Neutropaenia is part of the phenotype, and other SDS genes are part of the PID panel.
Sources: Expert list
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 DNASE1L3 Zornitza Stark reviewed gene: DNASE1L3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22019780, 30008451; Phenotypes: Systemic lupus erythematosus 16, MIM# 614420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 DEF6 Zornitza Stark reviewed gene: DEF6: Rating: AMBER; Mode of pathogenicity: None; Publications: 31308374; Phenotypes: Systemic autoimmunity; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 DBR1 Zornitza Stark reviewed gene: DBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29474921; Phenotypes: Viral infections of the brainstem; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 CSF2RB Zornitza Stark reviewed gene: CSF2RB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 CIB1 Zornitza Stark gene: CIB1 was added
gene: CIB1 was added to Primary immunodeficiency. Sources: Expert list
Mode of inheritance for gene: CIB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CIB1 were set to 30068544
Phenotypes for gene: CIB1 were set to Epidermodysplasia verruciformis 3 618267; HPV infections and cancer of the skin
Review for gene: CIB1 was set to GREEN
Added comment: Underlying defect of innate immunity, though phenotype is dermatological. 24 individuals from 6 families reported. Part of IUIS classification 2019.
Sources: Expert list
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 C17orf62 Zornitza Stark reviewed gene: C17orf62: Rating: GREEN; Mode of pathogenicity: None; Publications: 30361506, 30312704, 28351984; Phenotypes: Chronic granulomatous disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 BLOC1S6 Zornitza Stark edited their review of gene: BLOC1S6: Changed rating: AMBER
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 MRE11 Sarah Leigh Publications for gene: MRE11 were set to 8445618; 10612394; 15574463; 32212377
Primary immunodeficiency or monogenic inflammatory bowel disease v2.50 MRE11 Sarah Leigh changed review comment from: Comment on list classification: Immunodeficiency does not appear to be a feature of Ataxia-telangiectasia-like disorder 1 604391. However, as part of the MRE11-RAD50-NBS1 Complex it is part of the core conductor for the initial and sustained responses to DNA double-strand breaks, stalled replication forks, dysfunctional telomeres, and viral DNA infection. Hence, variants in MRE11, could reduce the response to viral DNA integration in host cells,allowing infections to be propogated. ; to: Comment on list classification: Immunodeficiency does not appear to be a feature of Ataxia-telangiectasia-like disorder 1 604391. However, as part of the MRE11-RAD50-NBS1 Complex it is part of the core conductor for the initial and sustained responses to DNA double-strand breaks, stalled replication forks, dysfunctional telomeres, and viral DNA infection (pmid 29709199). Hence, variants in MRE11, could reduce the response to viral DNA integration in host cells,allowing infections to be propogated.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.50 MRE11 Sarah Leigh changed review comment from: Comment on list classification: Immunodeficiency does not appear to be a feature of Ataxia-telangiectasia-like disorder 1 604391; to: Comment on list classification: Immunodeficiency does not appear to be a feature of Ataxia-telangiectasia-like disorder 1 604391. However, as part of the MRE11-RAD50-NBS1 Complex it is part of the core conductor for the initial and sustained responses to DNA double-strand breaks, stalled replication forks, dysfunctional telomeres, and viral DNA infection. Hence, variants in MRE11, could reduce the response to viral DNA integration in host cells,allowing infections to be propogated.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.50 MRE11 Sarah Leigh Classified gene: MRE11 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.50 MRE11 Sarah Leigh Added comment: Comment on list classification: Immunodeficiency does not appear to be a feature of Ataxia-telangiectasia-like disorder 1 604391
Primary immunodeficiency or monogenic inflammatory bowel disease v2.50 MRE11 Sarah Leigh Gene: mre11 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.49 MRE11 Sarah Leigh Publications for gene: MRE11 were set to 8445618; 10612394; 15574463
Primary immunodeficiency or monogenic inflammatory bowel disease v2.48 MRE11 Sarah Leigh Publications for gene: MRE11 were set to 8445618; 10612394; 15574463
Primary immunodeficiency or monogenic inflammatory bowel disease v2.47 SNORA31 Catherine Snow Classified gene: SNORA31 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.47 SNORA31 Catherine Snow Added comment: Comment on list classification: Rating as Green following external review
Primary immunodeficiency or monogenic inflammatory bowel disease v2.47 SNORA31 Catherine Snow Gene: snora31 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.46 BLOC1S6 Zornitza Stark reviewed gene: BLOC1S6: Rating: RED; Mode of pathogenicity: None; Publications: 32245340; Phenotypes: Hermansky-Pudlak syndrome 9, MIM# 614171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.46 BCL11B Zornitza Stark reviewed gene: BCL11B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29985992, 27959755; Phenotypes: Immunodeficiency 49, MIM# 617237, Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, MIM# 618092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v2.46 BCL10 Zornitza Stark reviewed gene: BCL10: Rating: GREEN; Mode of pathogenicity: None; Publications: 25365219, 32008135, 11163238, 12910267; Phenotypes: Immunodeficiency 37, MIM# 616098; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.46 ARHGEF1 Zornitza Stark reviewed gene: ARHGEF1: Rating: RED; Mode of pathogenicity: None; Publications: 30521495; Phenotypes: Immunodeficiency 62, MIM#618459; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.46 ALPI Zornitza Stark reviewed gene: ALPI: Rating: AMBER; Mode of pathogenicity: None; Publications: 29567797; Phenotypes: Inflammatory bowel disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.46 ADAM17 Zornitza Stark reviewed gene: ADAM17: Rating: GREEN; Mode of pathogenicity: None; Publications: 22010916, 29560122, 26683521, 25804906; Phenotypes: Inflammatory skin and bowel disease, neonatal, 1, MIM# 614328, Recurrent infections; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.46 MRE11 Sarah Leigh Publications for gene: MRE11 were set to 8445618; 10612394
Primary immunodeficiency or monogenic inflammatory bowel disease v2.45 CD247 Sophie Hambleton edited their review of gene: CD247: Added comment: There are at least 2 separate published reports of SCID caused by biallelic mutations in this gene, in keeping with understanding of its role in T cell biology.; Changed rating: GREEN; Changed publications: 16672702, 17170122; Changed phenotypes: T-B+ SCID
Primary immunodeficiency or monogenic inflammatory bowel disease v2.45 BCL10 Sophie Hambleton edited their review of gene: BCL10: Added comment: Additional case report describes recurrent infections with same cellular and immunological phenotypes in a child with homozygous null mutation, hence upgrade from amber to green gene status; Changed rating: GREEN; Changed publications: 25365219, 32008135
Primary immunodeficiency or monogenic inflammatory bowel disease v2.45 IL6 Ellen McDonagh gene: IL6 was added
gene: IL6 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: IL6 was set to Unknown
Publications for gene: IL6 were set to medRxiv 2020.04.01.20047381; doi: https://doi.org/10.1101/2020.04.01.20047381
Phenotypes for gene: IL6 were set to Potential marker for respiratory failure when infected with COVID-19
Review for gene: IL6 was set to RED
Added comment: Not yet peer-reviewed study available in medRxiv: https://www.medrxiv.org/content/10.1101/2020.04.01.20047381v1
reports an association between elevated interleukin-6 (IL-6) in COVID-19 infected patients with the need for mechanical ventilation (p=1.2.10-5). The maximal IL-6 level (cutoff 80 pg/ml) for each patient during disease predicted respiratory failure with high accuracy (p=1.7.10-8, AUC=0.98). The risk of respiratory failure for patients with IL-6 levels of ≥ 80 pg/ml was 22 times higher compared to patients with lower IL-6 levels.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.44 IL6R Ellen McDonagh reviewed gene: IL6R: Rating: ; Mode of pathogenicity: None; Publications: medRxiv 2020.04.01.20047381, doi: https://doi.org/10.1101/2020.04.01.20047381; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.44 MPO Sarah Leigh Classified gene: MPO as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.44 MPO Sarah Leigh Added comment: Comment on list classification: Comment on list classification: PMID 3208230 outlines the role of neutrophil extracellular traps (NETs) in the control of some pathogens including viruses, by virus capture and neutralization. In vivo treatment of the mice with DNase resulted in the enhanced susceptibility of IFNAR-/- mice to the CHIKV virus. Furthermore, the levels of MPO-DNA complex in acutely CHIKV-infected patients, were correlated with the levels of NETs and the viral load in the blood, suggesting that NETs are also released in natural human infection cases. Therefore, variants that result in myeloperoxidase deficiency, may well contribute to an increased susceptiblity to viral infection. At least 9 variants have been reported in Myeloperoxidase deficiency 254600 and these could well be contributing to increased viral susceptibily.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.44 MPO Sarah Leigh Gene: mpo has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.43 MPO Sarah Leigh Publications for gene: MPO were set to 15108282; 9354683; 9637725
Primary immunodeficiency or monogenic inflammatory bowel disease v2.42 IFNAR1 Sarah Leigh Classified gene: IFNAR1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.42 IFNAR1 Sarah Leigh Added comment: Comment on list classification: Not associated with phenotype in OMIM or in Gen2Phen. However, the publications listed below give evidence that the three LOF variants in two unrelated cases are associated with an adverse reaction to attenuated virus vaccines, which are rescued by wt IFNAR1 protein in vitro.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.42 IFNAR1 Sarah Leigh Gene: ifnar1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.41 IFNAR1 Sarah Leigh Added comment: Comment on publications: PMID 31270247: reports two cases of healthy children with adverse reactions to live attuated virus vaccines. Each had biallelic loss-of-function IFNAR1 variations and the effects of these was demonstrated by the patient-derived fibroblasts being susceptible to viruses. This effect was recused by the WT IFNAR1.
PMID 26676772: reports the tageted degradation of IFNAR1 protein by
Influenza A virus (IAV), allowing the virus to escape the powerful innate immune system. Thus the loss of function of IFNAR1 would increase the susceptability to viral infection.
PMID 20020050: reports the tageted degradation of IFNAR1 protein by Severe Acute Respiratory Syndrome Coronavirus (SARS-CoV). Confocal microscopic analysis showed increased translocation of IFNAR1 into the lysosomal compartment and flow cytometry showed reduced levels of IFNAR1 in 3a-expressing cells.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.41 IFNAR1 Sarah Leigh Publications for gene: IFNAR1 were set to 31270247; 26676772; 20020050
Primary immunodeficiency or monogenic inflammatory bowel disease v2.40 IFNAR1 Sarah Leigh gene: IFNAR1 was added
gene: IFNAR1 was added to Primary immunodeficiency. Sources: Expert Review,Literature
Mode of inheritance for gene: IFNAR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFNAR1 were set to 31270247; 26676772; 20020050
Phenotypes for gene: IFNAR1 were set to IFNAR1 associated adverse reactions to certain live attenuated viral vaccines
Review for gene: IFNAR1 was set to AMBER
Added comment: Hypothesis from Abdelazeem Elhabyan (Tanta University Hospitals): this gene is involved in the interferon-mediated immune response to viruses of those is SARS Coronavirus (2003) which down-regulates the IFNAR1 receptors through its 3a protein. Additionally, Influenzavirus A suppress immune response by downregulation of this gene. It has been also linked to adverse reactions to measles and yellow fever vaccines in healthy individuals.
Sources: Expert Review, Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.39 IRF9 Catherine Snow Classified gene: IRF9 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.39 IRF9 Catherine Snow Gene: irf9 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.38 IRF9 Catherine Snow gene: IRF9 was added
gene: IRF9 was added to Primary immunodeficiency. Sources: Expert Review
Mode of inheritance for gene: IRF9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IRF9 were set to 30143481; 30826365
Phenotypes for gene: IRF9 were set to Immunodeficiency 65, susceptibility to viral infections, 618648
Review for gene: IRF9 was set to AMBER
Added comment: Identified by external reviewer as not present in the Primary immunodeficiency (version 2.37) or the research Viral susceptibility panel (version 0.35).

PMID:30143481 - Life-threatening Influenza Pneumonitis in a Child With Inherited IRF9 Deficiency. 5 year old Algerian girl homozygous for LOF variant c.991G>A and was hospitalized for severe infection with IAV requiring mechanical ventilation and Tamiflu treatment, and who had a history of recurrent benign bronchiolitis, biliary perforation following measles-mumps-rubella (MMR) vaccination at 1 yr of age, and recurrent fevers without a causative pathogen identified.

PMID:30826365 - identifies a homozygous splicing mutation in the IRF9 gene in a family of Portugese origin. The variant, c.577+1G>T (NM_006084), which is located in the donor splice site of introns 5 and 6. The proband is was a 10-year-old boy born at term to healthy consanguineous parents (first cousins of Portuguese origin and residents of Venezuela). From the first year of life, the child displayed a marked susceptibility to viral infections with moderate-to-severe symptoms of disease that resulted in persistent neurological impairment and bronchiectasis. A six month old sibling who has the same homozygous variant has had preventative treatment with IVIG and cotrimoxazole and has not presented with infections.

PMID: 28878077 - During early viral infection, overwhelming antigen exposure can cause functional exhaustion of CD8+ T cells and lead to chronic infection this paper reports on a mouse study which demonstrates that IRF9 plays a role in preventing CD8+ T cell exhaustion.
Sources: Expert Review
Primary immunodeficiency or monogenic inflammatory bowel disease v2.37 TMEM173 Ellen McDonagh Added comment: Comment on publications: Additional evidence added to the publication list, provided by Abdelazeem Elhabyan. Comments from Abdelazeem Elhabyan: GenBank - https://www.ncbi.nlm.nih.gov/gene?term=(human%5BOrganism%5D)%20AND%20TMEM173%5BGene%20Name%5D) This gene encodes a five transmembrane protein that functions as a major regulator of the innate immune response to viral and bacterial infections. The encoded protein is a pattern recognition receptor that detects cytosolic nucleic acids and transmits signals that activate type I interferon responses.

Hypothesis:
This gene is involved in interferon 1 pathway which is directly related to viral innate immune response. Upregulation may be associated with a protective effect or autoinflammatory response with aggravating effect. This is to be determined by clinical trials.

Highest organ of expression is the lung in genbank (Pneumonia caused by corona) RPKM ,\mean is 37

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7069765/

Extracellular vesicles released by virally infected cells(HSV) that carry STING can induce protective effect against viral replication in neighbouring non infected cells
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6146713/

Virulent Poxviruses Inhibit DNA Sensing by Preventing STING Activation
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5923072/
The gene is involved in acute pancreatitis in mice
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6112120/
Primary immunodeficiency or monogenic inflammatory bowel disease v2.37 TMEM173 Ellen McDonagh Publications for gene: TMEM173 were set to 25029335; 25401470
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 ZNF341 Louise Daugherty edited their review of gene: ZNF341: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 29907691, 29907690
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 TRIM22 Louise Daugherty reviewed gene: TRIM22: Rating: AMBER; Mode of pathogenicity: ; Publications: 26836588; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 TOP2B Louise Daugherty reviewed gene: TOP2B: Rating: AMBER; Mode of pathogenicity: ; Publications: 31409799; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 TNFRSF9 Louise Daugherty reviewed gene: TNFRSF9: Rating: AMBER; Mode of pathogenicity: ; Publications: 31537641, 30872117, 31501153; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 TGFBR2 Louise Daugherty reviewed gene: TGFBR2: Rating: AMBER; Mode of pathogenicity: ; Publications: 29392890; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 TGFBR1 Louise Daugherty reviewed gene: TGFBR1: Rating: AMBER; Mode of pathogenicity: ; Publications: 29392890; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 TGFB1 Louise Daugherty reviewed gene: TGFB1: Rating: AMBER; Mode of pathogenicity: ; Publications: 29483653; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 SRP54 Louise Daugherty edited their review of gene: SRP54: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 28972538, 29914977
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 SLC7A7 Louise Daugherty reviewed gene: SLC7A7: Rating: AMBER; Mode of pathogenicity: ; Publications: 28057010; Phenotypes: ; Mode of inheritance:
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 v2.36 SH3KBP1 Louise Daugherty reviewed gene: SH3KBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 29636373; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 SEC61A1 Louise Daugherty reviewed gene: SEC61A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 28782633; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 RELA Louise Daugherty reviewed gene: RELA: Rating: AMBER; Mode of pathogenicity: ; Publications: 28600438, 29305315; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 REL Louise Daugherty reviewed gene: REL: Rating: AMBER; Mode of pathogenicity: ; Publications: 31103457; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 RAC2 Louise Daugherty edited their review of gene: RAC2: Added comment: Added publication referenced by IUIS december 2019 update; Changed publications: 25512081, 30723080, 30654050, 31071452, 31382036
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 PSMG2 Louise Daugherty reviewed gene: PSMG2: Rating: AMBER; Mode of pathogenicity: ; Publications: 30664889; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 POLD2 Louise Daugherty reviewed gene: POLD2: Rating: AMBER; Mode of pathogenicity: ; Publications: 31449058; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 POLD1 Louise Daugherty reviewed gene: POLD1: Rating: AMBER; Mode of pathogenicity: ; Publications: 31449058, 31629014; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 OAS1 Louise Daugherty reviewed gene: OAS1: Rating: AMBER; Mode of pathogenicity: ; Publications: 29455859; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 NLRP1 Louise Daugherty edited their review of gene: NLRP1: Added comment: Added publication referenced by IUIS december 2019 update; Changed publications: 27662089, 31484767
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 NFE2L2 Louise Daugherty reviewed gene: NFE2L2: Rating: AMBER; Mode of pathogenicity: ; Publications: 29018201; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 LIG1 Louise Daugherty edited their review of gene: LIG1: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 30395541
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 IL6ST Louise Daugherty edited their review of gene: IL6ST: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 30309848, 28747427
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 IL6R Louise Daugherty edited their review of gene: IL6R: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 31235509, 31778705
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 IL2RB Louise Daugherty reviewed gene: IL2RB: Rating: AMBER; Mode of pathogenicity: ; Publications: 31040184, 31040185; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 IKZF1 Louise Daugherty edited their review of gene: IKZF1: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 29889099
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 IKBKB Louise Daugherty edited their review of gene: IKBKB: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 30337470, 24369075
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 ICOSLG Louise Daugherty edited their review of gene: ICOSLG: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 30498080
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 HAVCR2 Louise Daugherty reviewed gene: HAVCR2: Rating: AMBER; Mode of pathogenicity: ; Publications: 30374066, 30792187; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 FOXN1 Louise Daugherty edited their review of gene: FOXN1: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 31447097
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 FERMT1 Louise Daugherty reviewed gene: FERMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: 21936020; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 FCHO1 Louise Daugherty reviewed gene: FCHO1: Rating: AMBER; Mode of pathogenicity: ; Publications: 30822429; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 ERBIN Louise Daugherty edited their review of gene: ERBIN: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 28126831
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 DNASE2 Louise Daugherty edited their review of gene: DNASE2: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 29259162
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 DNASE1L3 Louise Daugherty edited their review of gene: DNASE1L3: Added comment: Added publication referenced by IUIS december 2019 update; Changed publications: 22019780, 23666765, 27821515
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 DNAJC21 Louise Daugherty edited their review of gene: DNAJC21: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 28062395
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 DEF6 Louise Daugherty reviewed gene: DEF6: Rating: AMBER; Mode of pathogenicity: ; Publications: 31308374; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 C17orf62 Louise Daugherty edited their review of gene: C17orf62: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 30361506, 30312704
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 CARD11 Louise Daugherty edited their review of gene: CARD11: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 30170123, 29074947
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 C1S Louise Daugherty edited their review of gene: C1S: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 27745832
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 C1R Louise Daugherty edited their review of gene: C1R: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 27745832
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 ARHGEF1 Louise Daugherty reviewed gene: ARHGEF1: Rating: AMBER; Mode of pathogenicity: ; Publications: 30521495; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 ALPI Louise Daugherty reviewed gene: ALPI: Rating: AMBER; Mode of pathogenicity: ; Publications: 29567797; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 ZNF341 Louise Daugherty Publications for gene ZNF341 were updated from 32048120; 29907691; 29907690; 32086639 to 32086639; 29907691; 32048120; 29907690
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 TRIM22 Louise Daugherty Publications for gene TRIM22 were updated from 32048120; 32086639 to 26836588; 32086639; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 TOP2B Louise Daugherty Publications for gene TOP2B were updated from 32048120; 32086639 to 31409799; 32086639; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 TNFRSF9 Louise Daugherty Publications for gene TNFRSF9 were updated from 32048120; 32086639 to 30872117; 32086639; 31537641; 31501153; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 TGFBR2 Louise Daugherty Publications for gene TGFBR2 were updated from 32048120; 32086639 to 32086639; 32048120; 29392890
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 TGFBR1 Louise Daugherty Publications for gene TGFBR1 were updated from 32048120; 32086639 to 32086639; 32048120; 29392890
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 TGFB1 Louise Daugherty Publications for gene TGFB1 were updated from 32048120; 32086639 to 32086639; 32048120; 29483653
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 SRP54 Louise Daugherty Publications for gene SRP54 were updated from 32048120; 32086639 to 32086639; 28972538; 29914977; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 SLC7A7 Louise Daugherty Publications for gene SLC7A7 were updated from 32086639; 32048120 to 28057010; 32086639; 32048120
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 v2.35 SH3KBP1 Louise Daugherty Publications for gene SH3KBP1 were updated from 32048120; 32086639 to 32086639; 32048120; 29636373
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 SEC61A1 Louise Daugherty Publications for gene SEC61A1 were updated from 32048120; 32086639 to 28782633; 32086639; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 RELA Louise Daugherty Publications for gene RELA were updated from 32048120; 32086639 to 28600438; 32086639; 32048120; 29305315
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 REL Louise Daugherty Publications for gene REL were updated from 32048120; 32086639 to 32086639; 31103457; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 RAC2 Louise Daugherty Publications for gene RAC2 were updated from 10961859; 10758162; 21167572; 25512081 to 21167572; 30654050; 30723080; 31071452; 25512081; 10758162; 31382036; 10961859
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 PSMG2 Louise Daugherty Publications for gene PSMG2 were updated from 32048120; 32086639 to 30664889; 32086639; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 POLD2 Louise Daugherty Publications for gene POLD2 were updated from 32086639; 32048120 to 31449058; 32086639; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 POLD1 Louise Daugherty Publications for gene POLD1 were updated from 32048120; 32086639 to 31449058; 32086639; 32048120; 31629014
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 OAS1 Louise Daugherty Publications for gene OAS1 were updated from 32048120; 32086639 to 32086639; 29455859; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 NLRP1 Louise Daugherty Publications for gene NLRP1 were updated from 27965258; 29850521 to 29850521; 27662089; 31484767; 27965258
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 NFE2L2 Louise Daugherty Publications for gene NFE2L2 were updated from 32048120; 32086639 to 32086639; 32048120; 29018201
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 LIG1 Louise Daugherty Publications for gene LIG1 were updated from 32048120; 1581963; 32086639 to 30395541; 1581963; 32086639; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 IL6ST Louise Daugherty Publications for gene IL6ST were updated from 32048120; 31235509; 32086639 to 31235509; 32086639; 30309848; 28747427; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 IL6R Louise Daugherty Publications for gene IL6R were updated from 32048120; 31235509; 32086639 to 31235509; 32086639; 32048120; 31778705
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 IL2RB Louise Daugherty Publications for gene IL2RB were updated from 32086639; 32048120 to 32086639; 31040185; 32048120; 31040184
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 IKZF1 Louise Daugherty Publications for gene IKZF1 were updated from 21548011; 26981933 to 29889099; 21548011; 26981933
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 IKBKB Louise Daugherty Publications for gene IKBKB were updated from 24369075; 25216719 to 25216719; 24369075; 30337470
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 ICOSLG Louise Daugherty Publications for gene ICOSLG were updated from 32048120; 32086639 to 32086639; 32048120; 30498080
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 HAVCR2 Louise Daugherty Publications for gene HAVCR2 were updated from 32086639; 32048120 to 30792187; 32086639; 32048120; 30374066
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 FOXN1 Louise Daugherty Publications for gene FOXN1 were updated from 15180707; 10206641; 21507891; 28636882; 28077132; 29593714; 11159512 to 28636882; 15180707; 21507891; 11159512; 31447097; 10206641; 28077132; 29593714
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 FERMT1 Louise Daugherty Publications for gene FERMT1 were updated from 32048120; 32086639 to 32086639; 32048120; 21936020
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 FCHO1 Louise Daugherty Publications for gene FCHO1 were updated from 32048120; 32086639 to 32086639; 30822429; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 ERBIN Louise Daugherty Publications for gene ERBIN were updated from 32086639; 32048120 to 28126831; 32086639; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 DNASE1L3 Louise Daugherty Publications for gene DNASE1L3 were updated from 32048120; 22019780; 32086639 to 27821515; 23666765; 22019780; 32086639; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 DNAJC21 Louise Daugherty Publications for gene DNAJC21 were updated from 27346687; 28062395; 29700810 to 27346687; 29700810; 28062395
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 DEF6 Louise Daugherty Publications for gene DEF6 were updated from 32086639; 32048120 to 32086639; 31308374; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 C17orf62 Louise Daugherty Publications for gene C17orf62 were updated from 32086639; 32048120 to 30312704; 30361506; 32086639; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 CARD11 Louise Daugherty Publications for gene CARD11 were updated from 23374270; 23561803; 28628108; 28826773; 23129749; 25352053 to 25352053; 23374270; 29074947; 23561803; 23129749; 30170123; 28628108; 28826773
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 C1S Louise Daugherty Publications for gene C1S were updated from 11390518; 9856483; 20727163 to 27745832; 11390518; 20727163; 9856483
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 C1R Louise Daugherty Publications for gene C1R were updated from 27745832; 29795138; 28711143; 21784777; 28544690 to 28544690; 21784777; 27745832; 29795138; 28711143
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 ARHGEF1 Louise Daugherty Publications for gene ARHGEF1 were updated from 32086639; 32048120 to 32086639; 30521495; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 ALPI Louise Daugherty Publications for gene ALPI were updated from 32086639; 32048120 to 32086639; 32048120; 29567797
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 ZNF341 Louise Daugherty Source IUIS Classification December 2019 was added to ZNF341.
Added phenotypes Bacterial infections, mild facial dysmorphism, pneumatoceles, hyperextensible joints, bone fractures, retention of primary teeth; Combined immunodeficiencies with associated or syndromic features for gene: ZNF341
Publications for gene ZNF341 were updated from 29907690; 29907691 to 32048120; 29907691; 29907690; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 WRAP53 Louise Daugherty Source IUIS Classification December 2019 was added to WRAP53.
Mode of inheritance for gene WRAP53 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay; Bone marrow failure for gene: WRAP53
Publications for gene WRAP53 were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 WDR1 Louise Daugherty Source IUIS Classification December 2019 was added to WDR1.
Added phenotypes Mild neutropenia, poor wound healing, severe stomatitis, neutrophil nuclei herniate; Congenital defects of phagocyte number or function for gene: WDR1
Publications for gene WDR1 were updated from 27557945 to 32048120; 27557945; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 USP18 Louise Daugherty Source IUIS Classification December 2019 was added to USP18.
Added phenotypes Autoinflammatory Disorders; TORCH like syndrome for gene: USP18
Publications for gene USP18 were updated from 31272490; 27325888 to 32048120; 27325888; 31272490; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 TRAF3IP2 Louise Daugherty Source IUIS Classification December 2019 was added to TRAF3IP2.
Added phenotypes CMC, blepharitis, folliculitis and macroglossia; Defects in intrinsic and innate immunity for gene: TRAF3IP2
Publications for gene TRAF3IP2 were updated from 24120361 to 32048120; 24120361; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 TRAF3 Louise Daugherty Source IUIS Classification December 2019 was added to TRAF3.
Added phenotypes Defects in intrinsic and innate immunity; Herpes simplex virus 1 encephalitis for gene: TRAF3
Publications for gene TRAF3 were updated from 20832341; 11296228; 24378539 to 24378539; 20832341; 32048120; 11296228; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 TNFSF12 Louise Daugherty Source IUIS Classification December 2019 was added to TNFSF12.
Added phenotypes Predominantly Antibody Deficiencies; Pneumonia, bacterial infections, warts, thrombocytopenia for gene: TNFSF12
Publications for gene TNFSF12 were updated from 23493554 to 32048120; 23493554; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 TNFSF11 Louise Daugherty Source IUIS Classification December 2019 was added to TNFSF11.
Mode of inheritance for gene TNFSF11 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Osteopetrosis with severe growth retardation; Defects in intrinsic and innate immunity for gene: TNFSF11
Publications for gene TNFSF11 were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 TNFRSF4 Louise Daugherty Source IUIS Classification December 2019 was added to TNFRSF4.
Added phenotypes Impaired immunity to HHV8, Kaposis sarcoma; Immunodeficiencies affecting cellular and humoral immunity for gene: TNFRSF4
Publications for gene TNFRSF4 were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 TNFRSF13C Louise Daugherty Source IUIS Classification December 2019 was added to TNFRSF13C.
Added phenotypes Variable clinical expression; Predominantly Antibody Deficiencies for gene: TNFRSF13C
Publications for gene TNFRSF13C were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 TNFRSF13B Louise Daugherty Source IUIS Classification December 2019 was added to TNFRSF13B.
Added phenotypes Variable clinical expression; Predominantly Antibody Deficiencies for gene: TNFRSF13B
Publications for gene TNFRSF13B were updated from 16007086; 16007087; 18981294; 28834165; 29114388 to 16007086; 18981294; 29114388; 16007087; 32048120; 28834165; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 TNFRSF11A Louise Daugherty Source IUIS Classification December 2019 was added to TNFRSF11A.
Added phenotypes Osteopetrosis; Defects in intrinsic and innate immunity for gene: TNFRSF11A
Publications for gene TNFRSF11A were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 TIRAP Louise Daugherty Source IUIS Classification December 2019 was added to TIRAP.
Mode of inheritance for gene TIRAP was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Defects in intrinsic and innate immunity; Staphylococcal disease during childhood for gene: TIRAP
Publications for gene TIRAP were updated from 28235196 to 32048120; 28235196; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 THBD Louise Daugherty Source IUIS Classification December 2019 was added to THBD.
Mode of inheritance for gene THBD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Atypical hemolytic-uremic syndrome; Complement Deficiencies for gene: THBD
Publications for gene THBD were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 TFRC Louise Daugherty Source IUIS Classification December 2019 was added to TFRC.
Mode of inheritance for gene TFRC was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Recurrent infections, thrombocytopenia; Immunodeficiencies affecting cellular and humoral immunity for gene: TFRC
Publications for gene TFRC were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 TERC Louise Daugherty Source IUIS Classification December 2019 was added to TERC.
Added phenotypes Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay; Bone marrow failure for gene: TERC
Publications for gene TERC were updated from 16332973; 11574891; 12525685 to 32048120; 12525685; 16332973; 11574891; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 TCIRG1 Louise Daugherty Source IUIS Classification December 2019 was added to TCIRG1.
Mode of inheritance for gene TCIRG1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Defects in intrinsic and innate immunity; Osteopetrosis with hypocalcemia for gene: TCIRG1
Publications for gene TCIRG1 were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 TBX1 Louise Daugherty Source IUIS Classification December 2019 was added to TBX1.
Added phenotypes Hypoparathyroidism, conotruncal cardiac malformation, velopalatal insufficiency, abnormal facies, intellectual disability; Combined immunodeficiencies with associated or syndromic features for gene: TBX1
Publications for gene TBX1 were updated from 24198816; 14585638; 11242110 to 11242110; 14585638; 24198816; 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 TAPBP Louise Daugherty Source IUIS Classification December 2019 was added to TAPBP.
Added phenotypes Vasculitis,pyoderma gangrenosum; Immunodeficiencies affecting cellular and humoral immunity for gene: TAPBP
Publications for gene TAPBP were updated from 12149238 to 32048120; 12149238; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 STN1 Louise Daugherty Source IUIS Classification December 2019 was added to STN1.
Mode of inheritance for gene STN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Intrauterine growth retardation, premature aging, pancytopenia, hypocellular bone marrow, gastrointestinal hemorrhage due to vascular ectasia, intracranial calcification, abnormal telomeres; Bone marrow failure for gene: STN1
Publications for gene STN1 were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 SRP54 Louise Daugherty Source IUIS Classification December 2019 was added to SRP54.
Mode of inheritance for gene SRP54 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Congenital defects of phagocyte number or function; Schwachman Diamond features for gene: SRP54
Publications for gene SRP54 were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 SNX10 Louise Daugherty Source IUIS Classification December 2019 was added to SNX10.
Mode of inheritance for gene SNX10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Osteopetrosis with visual impairment; Defects in intrinsic and innate immunity for gene: SNX10
Publications for gene SNX10 were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 SMARCD2 Louise Daugherty Source IUIS Classification December 2019 was added to SMARCD2.
Mode of inheritance for gene SMARCD2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Neutropenia, developmental aberrations, skeletal abnormalities, hematopoietic stem cells, myelodysplasia; Congenital defects of phagocyte number or function for gene: SMARCD2
Publications for gene SMARCD2 were updated from to 32048120; 32086639
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 v2.34 SH3BP2 Louise Daugherty Source IUIS Classification December 2019 was added to SH3BP2.
Added phenotypes Bone degeneration in jaws; Autoinflammatory Disorders for gene: SH3BP2
Publications for gene SH3BP2 were updated from 22640988; 28914985; 11381256; 29669173 to 29669173; 22640988; 32048120; 28914985; 11381256; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 SEMA3E Louise Daugherty Source IUIS Classification December 2019 was added to SEMA3E.
Added phenotypes Coloboma, heart anomaly, choanal atresia, intellectual retardation, genital and ear anomalies, CNS malformation, some are SCID-like and have low TRECs; Combined immunodeficiencies with associated or syndromic features for gene: SEMA3E
Publications for gene SEMA3E were updated from 1735828; 21055784; 12144540 to 12144540; 1735828; 32048120; 21055784; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 SAMD9L Louise Daugherty Source IUIS Classification December 2019 was added to SAMD9L.
Added phenotypes Bone marrow failure; MDS, neurological features for gene: SAMD9L
Publications for gene SAMD9L were updated from 28202457 to 32048120; 28202457; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 SAMD9 Louise Daugherty Source IUIS Classification December 2019 was added to SAMD9.
Mode of inheritance for gene SAMD9 was changed from Other - please specifiy in evaluation comments to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes IUGR with gonadal abnormalities, adrenal failure, MDS with chromosome 7 aberrations, predisposition to infections, enteropathy, absent spleen; Bone marrow failure for gene: SAMD9
Publications for gene SAMD9 were updated from 28487541; 29175836; 29266745; 29535429 to 28487541; 29535429; 32048120; 29266745; 29175836; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 RNU4ATAC Louise Daugherty Source IUIS Classification December 2019 was added to RNU4ATAC.
Mode of inheritance for gene RNU4ATAC was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Recurrent bacterial infections, lymphadenopathy, Spondyloepiphyseal dysplasia, extreme intrauterine growth retardation, retinal dystrophy, facial dysmorphism, may present with microcephaly, short stature for gene: RNU4ATAC
Publications for gene RNU4ATAC were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 RNF31 Louise Daugherty Source IUIS Classification December 2019 was added to RNF31.
Added phenotypes Bacterial infections, autoinflammation, amylopectinosis, lymphangiectasia; Combined immunodeficiencies with associated or syndromic features for gene: RNF31
Publications for gene RNF31 were updated from 26008899 to 32048120; 26008899; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 RHOH Louise Daugherty Source IUIS Classification December 2019 was added to RHOH.
Added phenotypes HPV infection, lung granulomas, molluscum contagiosum, lymphoma; Immunodeficiencies affecting cellular and humoral immunity for gene: RHOH
Publications for gene RHOH were updated from 22850876; 24189071 to 32048120; 22850876; 24189071; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 RELB Louise Daugherty Source IUIS Classification December 2019 was added to RELB.
Added phenotypes Recurrent infectionsImmunodeficiencies affecting cellular and humoral immunity for gene: RELB
Publications for gene RELB were updated from 26385063 to 32048120; 26385063; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 RANBP2 Louise Daugherty Source IUIS Classification December 2019 was added to RANBP2.
Added phenotypes Defects in intrinsic and innate immunity; Fever induces acute encephalopathy for gene: RANBP2
Publications for gene RANBP2 were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 PTEN Louise Daugherty Source IUIS Classification December 2019 was added to PTEN.
Added phenotypes Recurrent infections, Lymphoproliferation, Autoimmunity; developmental delay; Predominantly Antibody Deficiencies for gene: PTEN
Publications for gene PTEN were updated from 27426521 to 32048120; 27426521; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 PSENEN Louise Daugherty Source IUIS Classification December 2019 was added to PSENEN.
Added phenotypes Defects in intrinsic and innate immunity; Hidradenitis suppurativa for gene: PSENEN
Publications for gene PSENEN were updated from 20929727; 21412258; 27900998; 28287404; 28601418; 23439959; 23020871; 28922471 to 21412258; 28601418; 23439959; 32048120; 27900998; 28287404; 20929727; 28922471; 23020871; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 POLE2 Louise Daugherty Source IUIS Classification December 2019 was added to POLE2.
Added phenotypes Recurrent infections, disseminated BCG infections, autoimmunity (type 1 diabetes, hypothyroidism, facial dysmorphism); Combined immunodeficiencies with associated or syndromic features for gene: POLE2
Publications for gene POLE2 were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 PMS2 Louise Daugherty Source IUIS Classification December 2019 was added to PMS2.
Mode of inheritance for gene PMS2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Recurrent infections, cafe-au-lait spots, lymphoma, colorectal carcinoma, brain tumors; Combined immunodeficiencies with associated or syndromic features for gene: PMS2
Publications for gene PMS2 were updated from 7661930; 15077197; 9488480; 10763829; 16507833 to 15077197; 32048120; 7661930; 9488480; 16507833; 10763829; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 PLEKHM1 Louise Daugherty Source IUIS Classification December 2019 was added to PLEKHM1.
Mode of inheritance for gene PLEKHM1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Osteopetrosis; Defects in intrinsic and innate immunity for gene: PLEKHM1
Publications for gene PLEKHM1 were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 OSTM1 Louise Daugherty Source IUIS Classification December 2019 was added to OSTM1.
Added phenotypes Osteopetrosis with hypocalcemia, neurologic features; Defects in intrinsic and innate immunity for gene: OSTM1
Publications for gene OSTM1 were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 NFAT5 Louise Daugherty Source IUIS Classification December 2019 was added to NFAT5.
Added phenotypes IBD, recurrent sinopulmonary infections; Diseases of Immune Dysregulation for gene: NFAT5
Publications for gene NFAT5 were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 NCSTN Louise Daugherty Source IUIS Classification December 2019 was added to NCSTN.
Added phenotypes Defects in intrinsic and innate immunity; Hidradenitis suppurativa with acne for gene: NCSTN
Publications for gene NCSTN were updated from 20929727; 21412258 to 32048120; 20929727; 21412258; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 NBAS Louise Daugherty Source IUIS Classification December 2019 was added to NBAS.
Added phenotypes Defects in intrinsic and innate immunity; Fever induces liver failure for gene: NBAS
Publications for gene NBAS were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 MSH6 Louise Daugherty Source IUIS Classification December 2019 was added to MSH6.
Mode of inheritance for gene MSH6 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Predominantly Antibody Deficiencies; Family or personal history of cancer for gene: MSH6
Publications for gene MSH6 were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 MS4A1 Louise Daugherty Source IUIS Classification December 2019 was added to MS4A1.
Added phenotypes Recurrent infections; Predominantly Antibody Deficiencies for gene: MS4A1
Publications for gene MS4A1 were updated from 20038800; 27250108 to 32048120; 27250108; 20038800; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 MKL1 Louise Daugherty Source IUIS Classification December 2019 was added to MKL1.
Added phenotypes Mild thrombocytopenia; Congenital defects of phagocyte number or function for gene: MKL1
Publications for gene MKL1 were updated from 26224645 to 32048120; 26224645; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 MASP2 Louise Daugherty Source IUIS Classification December 2019 was added to MASP2.
Added phenotypes Pyogenic infections, inflammatory lung disease, autoimmunity; Complement Deficiencies for gene: MASP2
Publications for gene MASP2 were updated from 24658431 to 32048120; 24658431; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 LIG1 Louise Daugherty Source IUIS Classification December 2019 was added to LIG1.
Added phenotypes Recurrent respiratory infections, growth retardation, sun sensitivity, lymphoma, radiation sensitivity; Combined immunodeficiencies with associated or syndromic features for gene: LIG1
Publications for gene LIG1 were updated from 1581963 to 32048120; 1581963; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 KMT2D Louise Daugherty Source IUIS Classification December 2019 was added to KMT2D.
Added phenotypes Typical facial abnormalities, cleft or high arched palate, skeletal abnormalities, short stature, intellectual disability, congenital heart defects, recurrent infections (otitis media, pneumonia) in 50% of patients. Autoimmunity may be present; Combined immunodeficiencies with associated or syndromic features for gene: KMT2D
Publications for gene KMT2D were updated from 15887282; 25142838; 15523604; 26411453 to 25142838; 32048120; 15887282; 15523604; 26411453; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 KMT2A Louise Daugherty Source IUIS Classification December 2019 was added to KMT2A.
Added phenotypes Respiratory infections, short stature, hypertelorism, hairy elbows, developmental delay, intellectual disability; Combined immunodeficiencies with associated or syndromic features for gene: KMT2A
Publications for gene KMT2A were updated from 27320412 to 32048120; 27320412; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 KDM6A Louise Daugherty Source IUIS Classification December 2019 was added to KDM6A.
Added phenotypes Typical facial abnormalities, cleft or high arched palate, skeletal abnormalities, short stature, intellectual disability, congenital heart defects, recurrent infections (otitis media, pneumonia) in 50% of patients. Autoimmunity may be present; Combined immunodeficiencies with associated or syndromic features for gene: KDM6A
Publications for gene KDM6A were updated from 26411453; 25546742; 15887282; 25142838; 15523604 to 25546742; 25142838; 32048120; 15887282; 15523604; 26411453; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 JAK1 Louise Daugherty Source IUIS Classification December 2019 was added to JAK1.
Mode of inheritance for gene JAK1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Diseases of Immune Dysregulation; HSM, eosinophilic enteritis, thyroid disease, poor growth, viral infections for gene: JAK1
Publications for gene JAK1 were updated from 28111307 to 32048120; 28111307; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 IRF7 Louise Daugherty Source IUIS Classification December 2019 was added to IRF7.
Added phenotypes Severe influenza disease for gene: IRF7
Publications for gene IRF7 were updated from 25814066; 26761402; 9315633 to 26761402; 25814066; 9315633; 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 IRF3 Louise Daugherty Source IUIS Classification December 2019 was added to IRF3.
Added phenotypes Herpes simplex virus 1 encephalitis for gene: IRF3
Publications for gene IRF3 were updated from 26216125; 26513235 to 32048120; 26216125; 26513235; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 IRF2BP2 Louise Daugherty Source IUIS Classification December 2019 was added to IRF2BP2.
Added phenotypes Recurrent infections, possible autoimmunity and inflammatory disease; Predominantly Antibody Deficiencies for gene: IRF2BP2
Publications for gene IRF2BP2 were updated from 27016798 to 32048120; 27016798; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 IRAK1 Louise Daugherty Source IUIS Classification December 2019 was added to IRAK1.
Mode of inheritance for gene IRAK1 was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Bacterial infections, X-linked MECP2 deficiency-related syndrome due to a large de novo Xq28 chromosomal deletion encompassing both MECP2 and IRAK1 for gene: IRAK1
Publications for gene IRAK1 were updated from 28069966 to 32048120; 28069966; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 IL6ST Louise Daugherty Source IUIS Classification December 2019 was added to IL6ST.
Added phenotypes Bacterial infections, boiles, eczema, pulmonary abscesses, pneumatoceles, bone fractures, scoliosis, retention of primary teeth, craniosynostosis; Combined immunodeficiencies with associated or syndromic features for gene: IL6ST
Publications for gene IL6ST were updated from 31235509 to 32048120; 31235509; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 IL6R Louise Daugherty Source IUIS Classification December 2019 was added to IL6R.
Added phenotypes Recurrent pyogenic infections, cold abscesses, high circulating IL-6 levels; Combined immunodeficiencies with associated or syndromic features for gene: IL6R
Publications for gene IL6R were updated from 31235509 to 32048120; 31235509; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 IL21 Louise Daugherty Source IUIS Classification December 2019 was added to IL21.
Added phenotypes Severe early onset colitis, recurrent sinopulmonary infections; Immunodeficiencies affecting cellular and humoral immunity for gene: IL21
Publications for gene IL21 were updated from 24746753 to 32048120; 24746753; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 IL17F Louise Daugherty Source IUIS Classification December 2019 was added to IL17F.
Added phenotypes CMC, folliculitis for gene: IL17F
Publications for gene IL17F were updated from 21350122 to 32048120; 21350122; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 IGKC Louise Daugherty Source IUIS Classification December 2019 was added to IGKC.
Added phenotypes Asymptomatic; Predominantly Antibody Deficiencies for gene: IGKC
Publications for gene IGKC were updated from 4185453 to 32048120; 4185453; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 IFNAR2 Louise Daugherty Source IUIS Classification December 2019 was added to IFNAR2.
Added phenotypes Severe viral infections (disseminated vaccine-strain measles, HHV6) for gene: IFNAR2
Publications for gene IFNAR2 were updated from 26424569 to 32048120; 26424569; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 ICOSLG Louise Daugherty Source IUIS Classification December 2019 was added to ICOSLG.
Mode of inheritance for gene ICOSLG was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Recurrent bacterial and viral infections; Immunodeficiencies affecting cellular and humoral immunity for gene: ICOSLG
Publications for gene ICOSLG were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 HYOU1 Louise Daugherty Source IUIS Classification December 2019 was added to HYOU1.
Mode of inheritance for gene HYOU1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hypoglycemia, inflammatory complications; Congenital defects of phagocyte number or function for gene: HYOU1
Publications for gene HYOU1 were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 FPR1 Louise Daugherty Source IUIS Classification December 2019 was added to FPR1.
Added phenotypes Periodontitis only; Congenital defects of phagocyte number or function for gene: FPR1
Publications for gene FPR1 were updated from 10882119; 20203610; 8224916; 2910576; 28371599; 29105764 to 20203610; 29105764; 8224916; 10882119; 32048120; 28371599; 2910576; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 FCN3 Louise Daugherty Source IUIS Classification December 2019 was added to FCN3.
Added phenotypes Respiratory infections, abscesses for gene: FCN3
Publications for gene FCN3 were updated from 19535802; 20971976; 22226667; 25662573 to 22226667; 32048120; 20971976; 19535802; 25662573; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 FCGR3A Louise Daugherty Source IUIS Classification December 2019 was added to FCGR3A.
Added phenotypes severe herpes viral infections, particularly VZV, Epstein Barr virus (EBV), and (HPV) for gene: FCGR3A
Publications for gene FCGR3A were updated from 8608639; 8874200; 23006327; 8609432 to 8874200; 23006327; 32048120; 8609432; 8608639; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 FAAP24 Louise Daugherty Source IUIS Classification December 2019 was added to FAAP24.
Added phenotypes Diseases of Immune Dysregulation; EBV infection-driven lymphoproliferative disease for gene: FAAP24
Publications for gene FAAP24 were updated from 27473539 to 32048120; 27473539; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 DNASE1L3 Louise Daugherty Source IUIS Classification December 2019 was added to DNASE1L3.
Added phenotypes Systemic lupus erythematosus, lupus nephritis, hypocomplementemic urticarial vasculitis; Autoinflammatory Disorders for gene: DNASE1L3
Publications for gene DNASE1L3 were updated from 22019780 to 32048120; 22019780; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 CTC1 Louise Daugherty Source IUIS Classification December 2019 was added to CTC1.
Added phenotypes Intrauterine growth retardation, sparse graying hair, dystrophic nails, trilinear bone marrow failure, osteopenia, gastrointestinal hemorrhage due to vascular ectasia, retinal telangiectasia, intracranial calcification, abnormal telomeres; Bone marrow failure for gene: CTC1
Publications for gene CTC1 were updated from 22267198 to 32048120; 22267198; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 CLCN7 Louise Daugherty Source IUIS Classification December 2019 was added to CLCN7.
Mode of inheritance for gene CLCN7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Osteopetrosis with hypocalcemia, neurologic features for gene: CLCN7
Publications for gene CLCN7 were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 CFTR Louise Daugherty Source IUIS Classification December 2019 was added to CFTR.
Added phenotypes Respiratory infections, pancreatic insufficiency, elevated sweat chloride; Congenital defects of phagocyte number or function for gene: CFTR
Publications for gene CFTR were updated from to 32048120; 32086639
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
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
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
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
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
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 CD8A Louise Daugherty Source IUIS Classification December 2019 was added to CD8A.
Added phenotypes Recurrent infections, may be asymptomatic; Immunodeficiencies affecting cellular and humoral immunity for gene: CD8A
Publications for gene CD8A were updated from 11435463; 17658607 to 32048120; 17658607; 11435463; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 CD81 Louise Daugherty Source IUIS Classification December 2019 was added to CD81.
Added phenotypes Recurrent infections, may have glomerulonephritis; Predominantly Antibody Deficiencies for gene: CD81
Publications for gene CD81 were updated from 20237408; 14530327; 27250108 to 27250108; 14530327; 20237408; 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 C8G Louise Daugherty Source IUIS Classification December 2019 was added to C8G.
Added phenotypes Disseminated neisserial infections for gene: C8G
Publications for gene C8G were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 BCL11B Louise Daugherty Source IUIS Classification December 2019 was added to BCL11B.
Added phenotypes Congenital abnormalities, neonatal teeth, dysmorphic facies, absent corpus callosum, neurocognitive deficits; Combined immunodeficiencies with associated or syndromic features for gene: BCL11B
Publications for gene BCL11B were updated from 29296816; 27959755 to 32048120; 27959755; 29296816; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 BCL10 Louise Daugherty Source IUIS Classification December 2019 was added to BCL10.
Added phenotypes Recurrent bacterial and viral infections, candidiasis, gastroenteritis; Immunodeficiencies affecting cellular and humoral immunity for gene: BCL10
Publications for gene BCL10 were updated from 25365219 to 32048120; 25365219; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 APOL1 Louise Daugherty Source IUIS Classification December 2019 was added to APOL1.
Mode of inheritance for gene APOL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Trypanosomiasis for gene: APOL1
Publications for gene APOL1 were updated from 25100047; 29470556; 16720107; 28537557; 15894515; 28827791; 29077717 to 28827791; 29470556; 32048120; 28537557; 16720107; 15894515; 25100047; 29077717; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 AP3D1 Louise Daugherty Source IUIS Classification December 2019 was added to AP3D1.
Added phenotypes Oculocutaneous albinism, recurrent infections, seizures, hearing loss and neurodevelopmental delay for gene: AP3D1
Publications for gene AP3D1 were updated from 26744459 to 32048120; 26744459; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 AP1S3 Louise Daugherty Source IUIS Classification December 2019 was added to AP1S3.
Added phenotypes Pustular psoriasis; Autoinflammatory Disorders for gene: AP1S3
Publications for gene AP1S3 were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 ADAM17 Louise Daugherty Source IUIS Classification December 2019 was added to ADAM17.
Added phenotypes Early onset diarrhea and skin lesions; Autoinflammatory Disorders for gene: ADAM17
Publications for gene ADAM17 were updated from 25058236; 28930861; 22010916; 25171914; 11149563; 20603312 to 22010916; 28930861; 20603312; 32048120; 25171914; 11149563; 25058236; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 ACTB Louise Daugherty Source IUIS Classification December 2019 was added to ACTB.
Mode of inheritance for gene ACTB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Mental retardation, short stature; Congenital defects of phagocyte number or function for gene: ACTB
Publications for gene ACTB were updated from 10411937 to 32048120; 10411937; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.33 TINF2 Louise Daugherty Phenotypes for gene: TINF2 were changed from DBone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay; Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay exudative retinopathy to Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay; Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay exudative retinopathy
Primary immunodeficiency or monogenic inflammatory bowel disease v2.32 TINF2 Louise Daugherty Phenotypes for gene: TINF2 were changed from Dyskeratosis congenita 3; Dyskeratosis congenita; Hoyeraal-Hreidarsson syndrome; Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients; Combined immunodeficiencies with associated or syndromic features to DBone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay; Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay exudative retinopathy
Primary immunodeficiency or monogenic inflammatory bowel disease v2.31 TERT Louise Daugherty Phenotypes for gene: TERT were changed from Dyskeratosis congenita 2 613989, Dyskeratosis congenita 4 613989; Dyskeratosis congenita; Hoyeraal-Hreidarsson syndrome; Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients; Combined immunodeficiencies with associated or syndromic features to Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay; Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay; Bone marrow failure
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 v2.29 NLRP1 Louise Daugherty Phenotypes for gene: NLRP1 were changed from Dyskeratosis, autoimmunity and arthritis; Autoinflammatory Disorders; Autoinflammation with arthritis and dyskeratosis to Dyskeratosis, autoimmunity and arthritis; Palmoplantar carcinoma, corneal scarring; Autoinflammatory Disorders; Autoinflammation with arthritis and dyskeratosis
Primary immunodeficiency or monogenic inflammatory bowel disease v2.28 TINF2 Louise Daugherty commented on gene: TINF2: OriginaI Metadata from IUIS classification table (December, 2019). IUIS Genetic defect (original gene symbol in IUIS download): TINF2. PanelApp HGNC gene symbol check: TINF2 . IUIS Disease: AD-DKC due to TINF2 deficiency . IUIS Inheritance: AD .T cells: normal to low / normal to low .B cells: normal to low / normal to low, .IUIS Other affected cells: Hematopoietic stem cell / Hematopoietic stem cell. IUIS Associated features: Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay. IUIS Major category: Bone marrow failure IUIS Subcategory: none given
Primary immunodeficiency or monogenic inflammatory bowel disease v2.28 TERT Louise Daugherty commented on gene: TERT: OriginaI Metadata from IUIS classification table (December, 2019). IUIS Genetic defect (original gene symbol in IUIS download): TERT .PanelApp HGNC gene symbol check: TERT . IUIS Disease: AD/AR-DKC due to TERT deficiency . IUIS Inheritance: AD or AR .T cells: normal to low / normal to low, .B cells: Normal to low / normal to low, .IUIS Other affected cells: Hematopoietic stem cell / Hematopoietic stem cell. IUIS Associated features: Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay / Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay. IUIS Major category: Bone marrow failure, UIS Subcategory: none given
Primary immunodeficiency or monogenic inflammatory bowel disease v2.28 RAC2 Louise Daugherty Added comment: Comment on mode of inheritance: changed MOI due to IUIS December 2019 update
Primary immunodeficiency or monogenic inflammatory bowel disease v2.28 RAC2 Louise Daugherty Mode of inheritance for gene: RAC2 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 v2.27 RAC2 Louise Daugherty commented on gene: RAC2: Original Metadata from IUIS classification table (December, 2019). IUIS Genetic defect (original gene symbol in IUIS download): RAC2 .PanelApp HGNC gene symbol check: RAC2 . IUIS Disease: RAC2 deficiency . IUIS Inheritance: AD GOF / AR / AD LOF, T cells: Very low / no data, .B cells: Very low / no data, Immunoglobulin levels: Low / low, Neutrophil count: Low / High.IUIS Other affected cells: N. IUIS Associated features: Reticular dysgenesis / Recurrent sinopulmonary infections, selective IgA defiency; poststreptococcal glomerulonephritis; urticaria Poor wound healing, leukocytosis, IUIS Major category: TImmunodeficiencies affecting cellular and humoral immunity / Predominantly Antibody Deficiencies / Congenital defects of phagocyte number or function. IUIS Subcategory: T-B- SCID / CVID Phenotype/ Defects of Motility
Primary immunodeficiency or monogenic inflammatory bowel disease v2.27 NLRP1 Louise Daugherty commented on gene: NLRP1: Original Metadata from IUIS classification table (December, 2019). IUIS Genetic defect (original gene symbol in IUIS download): NLRP1 .PanelApp HGNC gene symbol check: NLRP1 . IUIS Disease: NLRP1 deficiency . IUIS Inheritance: AR / AD GOF .T cells: Normal / Normal, .B cells: Normal / Normal, Immunoglobulin levels: Normal / Normal, Neutrophil count: Normal / Normal IUIS Other affected cells: leukocytes / Keratinocytes. IUIS Associated features: Dyskeratosis, autoimmunity and arthritis / Palmoplantar carcinoma, corneal scarring, IUIS Major category: Autoinflammatory Disorders. IUIS Subcategory: Defects Affecting the Inflammasome
Primary immunodeficiency or monogenic inflammatory bowel disease v2.27 CFB Louise Daugherty changed review comment from: OriginaI Metadata from IUIS classification table (December, 2019). IUIS Genetic defect (original gene symbol in IUIS download): CFB .PanelApp HGNC gene symbol check: CFB . IUIS Disease: Factor B . IUIS Inheritance: AD .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Atypical Hemolytic-uremic syndrome. IUIS Major category: Complement Deficiencies. IUIS Subcategory: N/A. // OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): CFB .PanelApp HGNC gene symbol check: CFB . IUIS Disease: Factor B . IUIS Inheritance: AD GOF / AR .T cells: Normal / Normal , .B cells: Normal / Normal, Immunoglobulin levels:Normal / Normal, Neutrophil count: Normal / Normal .IUIS Other affected cells: N/A. IUIS Associated features: Infections with encapsulated organisms. IUIS Major category: Complement Deficiencies. IUIS Subcategory: N/A.; to: OriginaI Metadata from IUIS classification table (December, 2019). IUIS Genetic defect (original gene symbol in IUIS download): CFB .PanelApp HGNC gene symbol check: CFB . IUIS Disease: Factor B . IUIS Inheritance: AD .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Atypical Hemolytic-uremic syndrome. IUIS Major category: Complement Deficiencies. IUIS Subcategory: N/A. // OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): CFB .PanelApp HGNC gene symbol check: CFB . IUIS Disease: Factor B . IUIS Inheritance: AD GOF / AR .T cells: Normal / Normal , .B cells: Normal / Normal, Immunoglobulin levels:Normal / Normal, Neutrophil count: Normal / Normal .IUIS Other affected cells: N/A. IUIS Associated features: Infections with encapsulated organisms. IUIS Major category: Complement Deficiencies. IUIS Subcategory: N/A.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.27 CFB Louise Daugherty commented on gene: CFB: OriginaI Metadata from IUIS classification table (December, 2019). IUIS Genetic defect (original gene symbol in IUIS download): CFB .PanelApp HGNC gene symbol check: CFB . IUIS Disease: Factor B . IUIS Inheritance: AD .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Atypical Hemolytic-uremic syndrome. IUIS Major category: Complement Deficiencies. IUIS Subcategory: N/A. // OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): CFB .PanelApp HGNC gene symbol check: CFB . IUIS Disease: Factor B . IUIS Inheritance: AD GOF / AR .T cells: Normal / Normal , .B cells: Normal / Normal, Immunoglobulin levels:Normal / Normal, Neutrophil count: Normal / Normal .IUIS Other affected cells: N/A. IUIS Associated features: Infections with encapsulated organisms. IUIS Major category: Complement Deficiencies. IUIS Subcategory: N/A.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.27 SLC7A7 Louise Daugherty Publications for gene: SLC7A7 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v2.26 SLC7A7 Louise Daugherty Phenotypes for gene: SLC7A7 were changed from to Lysinuric protein intolerance SLC7A7 deficiency; Severe bacterial infections; Predominantly Antibody Deficiencies; Lysinuric protein intolerance, 222700
Primary immunodeficiency or monogenic inflammatory bowel disease v2.25 SLC7A7 Louise Daugherty Mode of inheritance for gene: SLC7A7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.24 POLD2 Louise Daugherty Publications for gene: POLD2 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v2.23 POLD2 Louise Daugherty Phenotypes for gene: POLD2 were changed from to Polymerase d 2 deficiency; Recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability; Immunodeficiencies affecting cellular and humoral immunity
Primary immunodeficiency or monogenic inflammatory bowel disease v2.22 POLD2 Louise Daugherty Mode of inheritance for gene: POLD2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.21 IL2RB Louise Daugherty Publications for gene: IL2RB were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v2.20 IL2RB Louise Daugherty Phenotypes for gene: IL2RB were changed from to CD122 deficiency; Lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune hemolytic anemia, dermatitis, enteropathy, recurrent viral (EBV, CMV) infections; Immunodeficiency 63 with lymphoproliferation and autoimmunity, 618495
Primary immunodeficiency or monogenic inflammatory bowel disease v2.19 IL2RB Louise Daugherty Mode of inheritance for gene: IL2RB was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.18 DEF6 Louise Daugherty Publications for gene: DEF6 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v2.17 DEF6 Louise Daugherty Phenotypes for gene: DEF6 were changed from to DEF6 deficiency; Enteropathy, hepatosplenomegaly, cardiomyopathy, recurrent infections; Diseases of Immune Dysregulation
Primary immunodeficiency or monogenic inflammatory bowel disease v2.16 DEF6 Louise Daugherty Mode of inheritance for gene: DEF6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.15 SLC7A7 Louise Daugherty gene: SLC7A7 was added
gene: SLC7A7 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: SLC7A7 was set to
Primary immunodeficiency or monogenic inflammatory bowel disease v2.15 POLD2 Louise Daugherty gene: POLD2 was added
gene: POLD2 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: POLD2 was set to
Primary immunodeficiency or monogenic inflammatory bowel disease v2.15 IL2RB Louise Daugherty gene: IL2RB was added
gene: IL2RB was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: IL2RB was set to
Primary immunodeficiency or monogenic inflammatory bowel disease v2.15 DEF6 Louise Daugherty gene: DEF6 was added
gene: DEF6 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: DEF6 was set to
Primary immunodeficiency or monogenic inflammatory bowel disease v2.14 TGFB1 Louise Daugherty gene: TGFB1 was added
gene: TGFB1 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: TGFB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TGFB1 were set to 32048120; 32086639
Phenotypes for gene: TGFB1 were set to Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213; IBD, immunodeficiency, recurrent viral infections, microcephaly, and encephalopathy; Diseases of Immune Dysregulation; TGFB1 deficiency
Primary immunodeficiency or monogenic inflammatory bowel disease v2.14 PSMG2 Louise Daugherty gene: PSMG2 was added
gene: PSMG2 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: PSMG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMG2 were set to 32048120; 32086639
Phenotypes for gene: PSMG2 were set to CANDLE (chronic atypical neutrophilic dermatitis with lipodystrophy); Panniculitis, lipodystrophy, autoimmune hemolytic anemia; Autoinflammatory Disorders
Primary immunodeficiency or monogenic inflammatory bowel disease v2.14 NFE2L2 Louise Daugherty gene: NFE2L2 was added
gene: NFE2L2 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: NFE2L2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NFE2L2 were set to 32048120; 32086639
Phenotypes for gene: NFE2L2 were set to white matter cerebral lesions, increased level of homocysteine; Recurrent respiratory and skin infections, growth retardation, , developmental delay; Immunodeficiency, developmental delay, and hypohomocysteinemia, 617744; NFE2L2 GOF; increased expression of stress response genes; Combined immunodeficiencies with associated or syndromic features
Primary immunodeficiency or monogenic inflammatory bowel disease v2.14 FCHO1 Louise Daugherty gene: FCHO1 was added
gene: FCHO1 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: FCHO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FCHO1 were set to 32048120; 32086639
Phenotypes for gene: FCHO1 were set to Recurrent infections, lymphoproliferation, increased activation-induced T-cell death, defective clathrin-mediated endocytosis; FCHO1 deficiency; Immunodeficiencies affecting cellular and humoral immunity
Primary immunodeficiency or monogenic inflammatory bowel disease v2.13 SH3KBP1 Louise Daugherty gene: SH3KBP1 was added
gene: SH3KBP1 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: SH3KBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SH3KBP1 were set to 32048120; 32086639
Phenotypes for gene: SH3KBP1 were set to SH3KBP1 (CIN85) deficiency; Severe bacterial infections; Predominantly Antibody Deficiencies; Immunodeficiency 61, 300310
Primary immunodeficiency or monogenic inflammatory bowel disease v2.13 SEC61A1 Louise Daugherty gene: SEC61A1 was added
gene: SEC61A1 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: SEC61A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SEC61A1 were set to 32048120; 32086639
Phenotypes for gene: SEC61A1 were set to SEC61A1 deficiency; Severe recurrent respiratory tract infections; Hyperuricemic nephropathy, familial juvenile, 4, 617056; Predominantly Antibody Deficiencies
Primary immunodeficiency or monogenic inflammatory bowel disease v2.13 RELA Louise Daugherty gene: RELA was added
gene: RELA was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: RELA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RELA were set to 32048120; 32086639
Phenotypes for gene: RELA were set to Mucocutaneous ulceration, chronic, 618287; RelA haplosufficiency; Mucosal ulceration, impaired NFkB activation; Immunodeficiencies affecting cellular and humoral immunity
Primary immunodeficiency or monogenic inflammatory bowel disease v2.13 REL Louise Daugherty gene: REL was added
gene: REL was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: REL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: REL were set to 32048120; 32086639
Phenotypes for gene: REL were set to Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic infections; c-Rel deficiency; Immunodeficiencies affecting cellular and humoral immunity
Primary immunodeficiency or monogenic inflammatory bowel disease v2.13 POLD1 Louise Daugherty gene: POLD1 was added
gene: POLD1 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: POLD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLD1 were set to 32048120; 32086639
Phenotypes for gene: POLD1 were set to Recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability; Polymerase d 1 deficiency; Immunodeficiencies affecting cellular and humoral immunity
Primary immunodeficiency or monogenic inflammatory bowel disease v2.13 OAS1 Louise Daugherty gene: OAS1 was added
gene: OAS1 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: OAS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: OAS1 were set to 32048120; 32086639
Phenotypes for gene: OAS1 were set to Autoinflammatory Disorders; Pulmonary alveolar proteinosis, skin rash; OAS1 GOF
Primary immunodeficiency or monogenic inflammatory bowel disease v2.13 FERMT1 Louise Daugherty gene: FERMT1 was added
gene: FERMT1 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: FERMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FERMT1 were set to 32048120; 32086639
Phenotypes for gene: FERMT1 were set to Kindler syndrome, 173650; FERMT1 deficiency (Kindler syndrome); Diseases of Immune Dysregulation; Dermatosis characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling
Primary immunodeficiency or monogenic inflammatory bowel disease v2.13 TGFBR1 Louise Daugherty gene: TGFBR1 was added
gene: TGFBR1 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TGFBR1 were set to 32048120; 32086639
Phenotypes for gene: TGFBR1 were set to Recurrent respiratory infectons, eczema, food allergies, hyperextensible joints, scoliosis, retention of primary teeths, aortic anuerysms; Loeys Dietz syndrome due to TGFBR1 deficiency; Loeys-Dietz syndrome 1, 609192; Combined immunodeficiencies with associated or syndromic features
Primary immunodeficiency or monogenic inflammatory bowel disease v2.13 TGFBR2 Louise Daugherty gene: TGFBR2 was added
gene: TGFBR2 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TGFBR2 were set to 32048120; 32086639
Phenotypes for gene: TGFBR2 were set to Recurrent respiratory infections, eczema, food allergies, hyperextensible joints, scoliosis, retention of primary teeths, aortic anuerysms; ALPS-FAS; Combined immunodeficiencies with associated or syndromic features
Primary immunodeficiency or monogenic inflammatory bowel disease v2.13 TNFRSF9 Louise Daugherty gene: TNFRSF9 was added
gene: TNFRSF9 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: TNFRSF9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNFRSF9 were set to 32048120; 32086639
Phenotypes for gene: TNFRSF9 were set to CD137 deficiency (41BB); EBV lymphoproliferation, B-cell lymphoma
Primary immunodeficiency or monogenic inflammatory bowel disease v2.13 TRIM22 Louise Daugherty gene: TRIM22 was added
gene: TRIM22 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: TRIM22 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIM22 were set to 32048120; 32086639
Phenotypes for gene: TRIM22 were set to Autoinflammatory Disorders; Granulomatous colitis; Diseases of Immune Dysregulation; TRIM22
Primary immunodeficiency or monogenic inflammatory bowel disease v2.13 TOP2B Louise Daugherty gene: TOP2B was added
gene: TOP2B was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: TOP2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TOP2B were set to 32048120; 32086639
Phenotypes for gene: TOP2B were set to Recurrent infections, facial dysmorphism, limb anomalies; Predominantly Antibody Deficiencies; Hoffman syndrome/TOP2B deficiency
Primary immunodeficiency or monogenic inflammatory bowel disease v2.12 PIK3CD Louise Daugherty Publications for gene: PIK3CD were set to 24165795; 24136356
Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 ERBIN Louise Daugherty commented on gene: ERBIN
Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 ERBIN Louise Daugherty Tag new-gene-name tag was added to gene: ERBIN.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 C17orf62 Louise Daugherty commented on gene: C17orf62
Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 C17orf62 Louise Daugherty Tag new-gene-name tag was added to gene: C17orf62.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 HAVCR2 Louise Daugherty gene: HAVCR2 was added
gene: HAVCR2 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: HAVCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAVCR2 were set to 32086639; 32048120
Phenotypes for gene: HAVCR2 were set to Tim-3 deficiency; T-cell lymphoma, subcutaneous panniculitis-like, HLH; T-cell lymphoma, subcutaneous panniculitis-like, 618398; Autoinflammatory Disorders
Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 FANCM Louise Daugherty gene: FANCM was added
gene: FANCM was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: FANCM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCM were set to 32086639; 32048120
Phenotypes for gene: FANCM were set to Bone marrow failure; Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage; Fanconi Anemia Type M
Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 FANCI Louise Daugherty gene: FANCI was added
gene: FANCI was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCI were set to 32086639; 32048120
Phenotypes for gene: FANCI were set to Fanconi anemia, complementation group I, 609053; Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage; Fanconi Anemia Type I; Bone marrow failure
Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 FANCF Louise Daugherty gene: FANCF was added
gene: FANCF was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCF were set to 32086639; 32048120
Phenotypes for gene: FANCF were set to Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage; Fanconi Anemia Type F; Fanconi anemia, complementation group F, 603467; Bone marrow failure
Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 ERCC4 Louise Daugherty gene: ERCC4 was added
gene: ERCC4 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC4 were set to 32086639; 32048120
Phenotypes for gene: ERCC4 were set to Fanconi anemia, complementation group Q, 615272; Bone marrow failure; Fanconi Anemia Type Q; Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage
Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 ERBIN Louise Daugherty gene: ERBIN was added
gene: ERBIN was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: ERBIN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ERBIN were set to 32086639; 32048120
Phenotypes for gene: ERBIN were set to ERBIN deficiency; Combined immunodeficiencies with associated or syndromic features; Recurrent respiratory infections, susceptibility to S. aureus, eczema, hyperextensible joints, scoliosis, arterial dilatation in some
Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 DBR1 Louise Daugherty gene: DBR1 was added
gene: DBR1 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: DBR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DBR1 were set to 32086639; 32048120
Phenotypes for gene: DBR1 were set to DBR1 deficiency; Defects in intrinsic and innate immunity; HSE of the brainstem. Other viral infections of the brainstem
Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 C17orf62 Louise Daugherty gene: C17orf62 was added
gene: C17orf62 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: C17orf62 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C17orf62 were set to 32086639; 32048120
Phenotypes for gene: C17orf62 were set to Autosomal recessive CGD EROS; Congenital defects of phagocyte number or function
Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 BRCA2 Louise Daugherty gene: BRCA2 was added
gene: BRCA2 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRCA2 were set to 32086639; 32048120
Phenotypes for gene: BRCA2 were set to Fanconi anemia, complementation group D1, 605724; Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage; Bone marrow failure; Fanconi Anemia Type D1
Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 BRCA1 Louise Daugherty gene: BRCA1 was added
gene: BRCA1 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: BRCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRCA1 were set to 32086639; 32048120
Phenotypes for gene: BRCA1 were set to Fanconi anemia, complementation group S, 617883; normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage; Bone marrow failure; Fanconi Anemia Type S
Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 ARHGEF1 Louise Daugherty gene: ARHGEF1 was added
gene: ARHGEF1 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: ARHGEF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARHGEF1 were set to 32086639; 32048120
Phenotypes for gene: ARHGEF1 were set to Predominantly Antibody Deficiencies; Recurrent infections, bronchiectasis; Immunodeficiency 62, 618459; ARHGEF1 deficiency
Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 ALPI Louise Daugherty gene: ALPI was added
gene: ALPI was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: ALPI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALPI were set to 32086639; 32048120
Phenotypes for gene: ALPI were set to Autoinflammatory Disorders; ALPI deficiency; Inflammatory bowel disease
Primary immunodeficiency or monogenic inflammatory bowel disease v2.10 ZNF341 Louise Daugherty Classified gene: ZNF341 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.10 ZNF341 Louise Daugherty Added comment: Comment on list classification: New gene added for review
Primary immunodeficiency or monogenic inflammatory bowel disease v2.10 ZNF341 Louise Daugherty Gene: znf341 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.9 SNORA31 Louise Daugherty Classified gene: SNORA31 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.9 SNORA31 Louise Daugherty Added comment: Comment on list classification: New gene added for review
Primary immunodeficiency or monogenic inflammatory bowel disease v2.9 SNORA31 Louise Daugherty Gene: snora31 has been classified as Red List (Low Evidence).
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 Added comment: Comment on list classification: New gene added for review
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 Added comment: Comment on list classification: New gene for review. Single case recommend further discussion, suggest Amber
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 v2.6 PSMB10 Louise Daugherty Classified gene: PSMB10 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.6 PSMB10 Louise Daugherty Added comment: Comment on list classification: New gene for review. Single case recommend Red rating
Primary immunodeficiency or monogenic inflammatory bowel disease v2.6 PSMB10 Louise Daugherty Gene: psmb10 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.5 IL6ST Louise Daugherty Classified gene: IL6ST as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.5 IL6ST Louise Daugherty Added comment: Comment on list classification: New gene added for review
Primary immunodeficiency or monogenic inflammatory bowel disease v2.5 IL6ST Louise Daugherty Gene: il6st has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.4 IL6R Louise Daugherty Classified gene: IL6R as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.4 IL6R Louise Daugherty Added comment: Comment on list classification: New gene added for review
Primary immunodeficiency or monogenic inflammatory bowel disease v2.4 IL6R Louise Daugherty Gene: il6r has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.3 Louise Daugherty Panel version has been signed off
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 PSMB10 Louise Daugherty reviewed gene: PSMB10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 SNORA31 Louise Daugherty reviewed gene: SNORA31: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 IL6ST Louise Daugherty reviewed gene: IL6ST: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 IL6R Louise Daugherty reviewed gene: IL6R: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 ZNF341 Louise Daugherty reviewed gene: ZNF341: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 ZNF341 Owen Siggs gene: ZNF341 was added
gene: ZNF341 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: ZNF341 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF341 were set to 29907690; 29907691
Phenotypes for gene: ZNF341 were set to Hyper-IgE syndrome
Review for gene: ZNF341 was set to GREEN
Added comment: Ten unrelated families with nonsense or frameshift variants.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 IL6R Owen Siggs gene: IL6R was added
gene: IL6R was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: IL6R was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL6R were set to 31235509
Phenotypes for gene: IL6R were set to Recurrent infections; Hyper-IgE; Eczema
Review for gene: IL6R was set to GREEN
Added comment: Two unrelated cases with homozygous variants (frameshift or missense) and compelling functional evidence.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 IL6ST Owen Siggs reviewed gene: IL6ST: Rating: GREEN; Mode of pathogenicity: None; Publications: 28747427, 30309848; Phenotypes: Hyper-IgE syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 IL6ST Owen Siggs Deleted their review
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 IL6ST Owen Siggs gene: IL6ST was added
gene: IL6ST was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: IL6ST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL6ST were set to 31235509
Phenotypes for gene: IL6ST were set to Recurrent infections; Abnormal acute-phase responses; Elevated IgE; Eczema; Eosinophilia
Review for gene: IL6ST was set to GREEN
Added comment: Two unrelated cases with homozygous variants (nonsense or missense), with functional evidence of causation.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 SNORA31 Owen Siggs gene: SNORA31 was added
gene: SNORA31 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: SNORA31 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SNORA31 were set to 31806906
Phenotypes for gene: SNORA31 were set to Herpes simplex encephalitis
Review for gene: SNORA31 was set to GREEN
Added comment: Five unrelated families, four heterozygous variants in small nucleolar RNA gene.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 PSMB10 Owen Siggs gene: PSMB10 was added
gene: PSMB10 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: PSMB10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMB10 were set to 31783057
Phenotypes for gene: PSMB10 were set to Proteasome-associated autoinflammatory syndrome
Review for gene: PSMB10 was set to AMBER
Added comment: Single case, homozygous missense variant, good functional experimental support.
Sources: Literature
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 v2.0 CDCA7 Louise Daugherty Tag watchlist was removed from gene: CDCA7.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 CDCA7 Louise Daugherty commented on gene: CDCA7: As a result of watchlist tag audit the watchlist tag was removed from CDCA7- this is now a green gene with sufficient evidence/review
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 Louise Daugherty promoted panel to version 2.0
Primary immunodeficiency or monogenic inflammatory bowel disease v1.138 Louise Daugherty Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS signed-off
Primary immunodeficiency or monogenic inflammatory bowel disease v1.137 USP18 Louise Daugherty commented on gene: USP18: Gene was flagged as requiring further clinical input from the Immunology Test Group, but no additional information was submitted to support the Green rating. In view of a lack of clear evidence the current recommendation is Amber.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.137 PSMB9 Louise Daugherty commented on gene: PSMB9: Gene was flagged as requiring further clinical input from the Immunology Test Group, but no additional information was submitted to support the Green rating. In view of a lack of clear evidence the current recommendation is Amber.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.137 PSMB4 Louise Daugherty commented on gene: PSMB4: Gene was flagged as requiring further clinical input from the Immunology Test Group, but no additional information was submitted to support the Green rating. In view of a lack of clear evidence the current recommendation is Amber.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.137 PSMA3 Louise Daugherty commented on gene: PSMA3: Gene was flagged as requiring further clinical input from the Immunology Test Group, but no additional information was submitted to support the Green rating. In view of a lack of clear evidence the current recommendation is Amber.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.137 NRAS Louise Daugherty commented on gene: NRAS: Gene was flagged as requiring further clinical input from the Immunology Test Group, but no additional information was submitted to support the Green rating. In view of a lack of clear evidence the current recommendation is Amber.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.137 NLRP1 Louise Daugherty commented on gene: NLRP1: Gene was flagged as requiring further clinical input from the Immunology Test Group, but no additional information was submitted to support the Green rating. In view of a lack of clear evidence the current recommendation is Amber.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.137 CFB Louise Daugherty commented on gene: CFB: Gene was flagged as requiring further clinical input from the Immunology Test Group, but no additional information was submitted to support the Green rating. In view of a lack of clear evidence the current recommendation is Amber.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.137 CSF2RA Louise Daugherty Added comment: Comment on mode of inheritance: Changed MOI due to MOI checks carried out by PanelApp team. This gene is on the pseudoautosomal region of chromosome X which is shared with chromoseome Y, so MOI affected cases are biallelic.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.137 CSF2RA Louise Daugherty Mode of inheritance for gene: CSF2RA was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v1.136 RASGRP1 Louise Daugherty Phenotypes for gene: RASGRP1 were changed from Recurrent pneumonia, herpesvirus infections, EBV associated lymphoma; Diseases of Immune Dysregulation; EBV-induced lymphoma; Immunodeficiency; Immunodeficiency 64, 618534 to Recurrent pneumonia, herpesvirus infections, EBV associated lymphoma; Diseases of Immune Dysregulation; EBV-induced lymphoma; Immunodeficiency; Immunodeficiency 64, 618534; Immunodeficiency; immunde dysregulation; EBV-induced lymphoma
Primary immunodeficiency or monogenic inflammatory bowel disease v1.135 POMP Louise Daugherty Phenotypes for gene: POMP were changed from CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome); Proteasome-associated autoinflammatory syndrome 2, 618048 to CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome); Proteasome-associated autoinflammatory syndrome 2, 618048; combined immunodeficiency with autoinflammation
Primary immunodeficiency or monogenic inflammatory bowel disease v1.134 POMP Louise Daugherty Publications for gene: POMP were set to 26524591
Primary immunodeficiency or monogenic inflammatory bowel disease v1.133 POMP Louise Daugherty Mode of inheritance for gene: POMP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 TNFRSF11A Sophie Hambleton commented on gene: TNFRSF11A
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 SAMD9L Sophie Hambleton commented on gene: SAMD9L
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 PTEN Sophie Hambleton reviewed gene: PTEN: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 MBL2 Sophie Hambleton reviewed gene: MBL2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 LYZ Sophie Hambleton reviewed gene: LYZ: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 SPPL2A Sophie Hambleton reviewed gene: SPPL2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 RIPK1 Sophie Hambleton reviewed gene: RIPK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30026316; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 POMP Sophie Hambleton reviewed gene: POMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 29805043; Phenotypes: combined immunodeficiency with autoinflammation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 RASGRP1 Sophie Hambleton reviewed gene: RASGRP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 WDR1 Sophie Hambleton reviewed gene: WDR1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 USP18 Sophie Hambleton reviewed gene: USP18: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 ORAI1 Sophie Hambleton edited their review of gene: ORAI1: Added comment: As stated below, there is good evidence that AR mutations in this gene cause immunodeficiency; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 ISCA-37433-Loss Sophie Hambleton reviewed Region: ISCA-37433-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 ISCA-37446-Loss Sophie Hambleton reviewed Region: ISCA-37446-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 CSF3R Sophie Hambleton commented on gene: CSF3R: Agree there is good evidence that biallelic variation in this gene causes SCN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 PIK3CD Ilenia Simeoni reviewed gene: PIK3CD: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29226301; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 STAT4 Louise Daugherty changed review comment from: New gene added after review of potential new genes for PID by the Immunology Test Group. This gene was noted as being only theoretical for PID so was rated as Red by the group.; to: Potential risk allele for SLE. New gene added after review of potential new genes for PID by the Immunology Test Group. This gene was noted as being only theoretical for PID so was rated as Red by the group.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 STAT4 Louise Daugherty reviewed gene: STAT4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 SAMD3 Louise Daugherty reviewed gene: SAMD3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 PTPN22 Louise Daugherty reviewed gene: PTPN22: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 POMP Louise Daugherty reviewed gene: POMP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 IL31RA Louise Daugherty changed review comment from: Not clearly a primary immunodeficiency. New gene added after review of potential new genes for PID by the Immunology Test Group. This gene was noted as being only theoretical for PID.; to: Not clearly a primary immunodeficiency. New gene added after review of potential new genes for PID by the Immunology Test Group. This gene was noted as being only theoretical for PID so was rated as Red by the group.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 LYZ Louise Daugherty reviewed gene: LYZ: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 IL31RA Louise Daugherty changed review comment from: New gene added after review of potential new genes for PID by the Immunology Test Group. This gene was noted as being only theoretical for PID.; to: Not clearly a primary immunodeficiency. New gene added after review of potential new genes for PID by the Immunology Test Group. This gene was noted as being only theoretical for PID.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 IL31RA Louise Daugherty changed review comment from: New gene added after review of potential new genes for PID by the Immunology Test Group. This gene was noted as being only theoretical for PID.; to: New gene added after review of potential new genes for PID by the Immunology Test Group. This gene was noted as being only theoretical for PID.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 IL31RA Louise Daugherty commented on gene: IL31RA
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 STAT4 Louise Daugherty Source London North GLH was added to STAT4.
Source Expert Review Red was added to STAT4.
Source NHS GMS was added to STAT4.
Rating Changed from No List (delete) to Red List (low evidence)