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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 v4.195 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 v4.193 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 v4.190 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 v4.179 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 v4.174 ANKZF1 Achchuthan Shanmugasundram Tag watchlist_moi tag was added to gene: ANKZF1.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.174 ANKZF1 Achchuthan Shanmugasundram 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 v4.171 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 v4.170 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 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 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 v4.166 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 v4.163 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 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 v4.162 CNBP Sarah Leigh Tag currently-ngs-unreportable was removed from gene: CNBP.
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 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 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 v4.152 MCTS1 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: MCTS1.
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 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 v4.149 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 v4.146 STAT6 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: STAT6.
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 v4.134 IL23R Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: IL23R.
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 v4.132 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 v4.127 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 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 v4.117 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 v4.113 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 v4.110 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 v4.101 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 v4.97 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 v4.94 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 v4.91 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 v4.83 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 v4.80 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 v4.79 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 v4.77 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 v4.76 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 v4.70 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 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 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 v4.64 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 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 v4.62 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 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 v4.57 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 v4.55 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 v4.54 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 v4.50 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 C2orf69 Achchuthan Shanmugasundram Tag gene-checked tag was added to 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 v4.49 TNFRSF9 Arina Puzriakova Tag gene-checked was removed from gene: TNFRSF9.
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 v4.45 HYOU1 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: HYOU1.
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 v4.40 IRF2BP2 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: IRF2BP2.
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 v4.39 CXCR2 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: CXCR2.
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 v4.37 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 v4.36 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 v4.32 DIAPH1 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: DIAPH1.
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 v4.29 OTULIN Achchuthan Shanmugasundram Tag Q3_23_MOI tag was added to gene: OTULIN.
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 v4.26 ARPC5 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: ARPC5.
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 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 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 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 v4.16 IRF7 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: IRF7.
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 v4.6 C2orf69 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: C2orf69.
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 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 v3.6 TBX1 Arina Puzriakova Tag Q1_23_promote_green tag was added to gene: TBX1.
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 v3.4 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 v3.3 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 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 Tag gene-checked was removed from gene: SASH3.
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 v2.577 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 v2.575 IFNAR2 Arina Puzriakova Tag Q3_22_rating tag was added to gene: IFNAR2.
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 v2.571 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 v2.568 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 v2.564 TLR8 Arina Puzriakova Tag Q3_22_rating tag was added to gene: TLR8.
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 v2.558 ANGPT1 Arina Puzriakova Tag watchlist tag was added to gene: ANGPT1.
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 TTC37 Sarah Leigh Tag new-gene-name tag was added to gene: TTC37.
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 v2.555 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 v2.554 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 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 v2.552 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 v2.550 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 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 v2.549 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 v2.548 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 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 v2.546 DCLRE1B Arina Puzriakova Tag gene-checked tag was added to gene: DCLRE1B.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.546 FASLG Eleanor Williams 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 v2.542 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 v2.537 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 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 v2.535 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 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 v2.532 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 v2.531 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 Tag to_be_confirmed_NHSE tag was added to gene: STAT5B.
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 TCF3 Arina Puzriakova Tag for-review was removed from gene: TCF3.
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 RIPK1 Arina Puzriakova Tag for-review was removed from gene: RIPK1.
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 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 v2.528 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 Tag to_be_confirmed_NHSE tag was added to gene: DCLRE1B.
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 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 v2.503 AGR2 Arina Puzriakova Tag Q1_22_rating tag was added to gene: AGR2.
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 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 v2.496 CLPB Arina Puzriakova Tag Q4_21_MOI tag was added to gene: CLPB.
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 v2.492 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 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 v2.489 IKZF3 Arina Puzriakova Tag Q4_21_rating tag was added to gene: IKZF3.
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 v2.485 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 CSF2RA Ivone Leong Tag Pseudoautosomal region 1 tag was added to gene: CSF2RA.
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 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 v2.473 KMT2A Arina Puzriakova Tag Q3_21_rating tag was added to gene: KMT2A.
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 v2.465 KDM6A Arina Puzriakova Tag Q3_21_expert_review tag was added to 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 v2.462 DCLRE1B Arina Puzriakova Tag Q3_21_expert_review tag was added to gene: DCLRE1B.
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 v2.459 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 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 v2.455 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 v2.454 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 v2.452 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 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 v2.450 PLG Arina Puzriakova Tag founder-effect was removed from gene: PLG.
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 v2.444 IPO8 Ivone Leong Tag Q3_21_expert_review tag was added to gene: IPO8.
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 v2.441 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 v2.440 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 v2.438 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 v2.434 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 v2.432 MYOF Arina Puzriakova Penetrance for gene MYOF was set from to None
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 v2.426 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 v2.423 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 v2.421 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 SASH3 Arina Puzriakova Tag Q2_21_rating tag was added to gene: SASH3.
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 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 v2.417 MPEG1 Arina Puzriakova Tag Q2_21_rating tag was added to gene: MPEG1.
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 SYK Arina Puzriakova Tag Q2_21_rating tag was added to gene: SYK.
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 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 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 v2.412 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 v2.405 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 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 v2.402 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 v2.401 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 v2.397 NPC1 Ivone Leong Tag for-review tag was added to gene: NPC1.
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 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 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 v2.391 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 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 v2.388 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 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 v2.387 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 v2.385 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 v2.384 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 v2.383 RNU7-1 Arina Puzriakova Tag watchlist tag was added to gene: RNU7-1.
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 v2.378 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 v2.376 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 v2.372 UBA1 Arina Puzriakova Tag somatic tag was added to gene: UBA1.
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 v2.369 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 v2.368 STAT5B Arina Puzriakova Tag for-review tag was added to 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 PIK3CD Arina Puzriakova Tag for-review tag was added to gene: PIK3CD.
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 v2.367 SNORA31 Arina Puzriakova Tag for-review tag was added to gene: SNORA31.
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 v2.365 ZNF341 Arina Puzriakova Tag for-review tag was added to gene: ZNF341.
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 v2.363 USP18 Arina Puzriakova Tag for-review tag was added to gene: USP18.
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 v2.361 TOP2B Arina Puzriakova Tag for-review tag was added to gene: TOP2B.
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 v2.359 NFE2L2 Arina Puzriakova Tag for-review tag was added to gene: NFE2L2.
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 v2.357 SMARCD2 Arina Puzriakova Tag for-review tag was added to gene: SMARCD2.
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 v2.355 SLC39A7 Arina Puzriakova Tag for-review tag was added to gene: SLC39A7.
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 v2.353 SLC7A7 Arina Puzriakova Tag for-review tag was added to gene: SLC7A7.
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 v2.351 C17orf62 Arina Puzriakova Tag for-review tag was added to gene: C17orf62.
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 v2.349 EFL1 Arina Puzriakova Tag for-review tag was added to gene: EFL1.
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 v2.347 DNASE1L3 Arina Puzriakova Tag for-review tag was added to gene: DNASE1L3.
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 v2.345 PAX1 Arina Puzriakova Tag for-review tag was added to gene: PAX1.
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 v2.342 CDC42 Arina Puzriakova Tag for-review tag was added to gene: CDC42.
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 v2.340 FCHO1 Arina Puzriakova Tag for-review tag was added to gene: FCHO1.
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 v2.338 IL2RB Arina Puzriakova Tag for-review tag was added to gene: IL2RB.
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 v2.336 OAS1 Arina Puzriakova Tag for-review tag was added to gene: OAS1.
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 v2.333 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 v2.332 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 v2.331 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 v2.330 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 v2.329 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 v2.328 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 v2.327 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 v2.326 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 v2.325 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 v2.324 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 v2.323 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 v2.322 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 v2.321 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 v2.320 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 v2.319 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 v2.318 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 v2.317 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 v2.316 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 v2.315 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 v2.314 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 v2.313 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 v2.312 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 v2.311 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 v2.310 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 v2.309 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 v2.308 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 v2.307 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 v2.306 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 v2.305 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 v2.304 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 v2.303 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 v2.302 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 v2.301 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 v2.300 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 v2.299 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 v2.298 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 v2.297 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 v2.296 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 v2.295 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 v2.294 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 v2.293 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 v2.292 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 v2.291 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 v2.290 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 v2.289 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 v2.288 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 v2.287 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 v2.286 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 v2.285 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 v2.284 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 v2.283 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 v2.282 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 v2.281 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 v2.280 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 v2.279 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 v2.278 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 v2.277 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 v2.276 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 v2.275 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 v2.274 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 v2.273 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 v2.272 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 v2.271 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 v2.270 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 v2.269 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 v2.268 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 v2.267 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 v2.266 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 v2.265 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 v2.264 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 v2.263 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 v2.262 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 v2.261 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 v2.260 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 v2.259 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 v2.258 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 v2.257 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 v2.256 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 v2.255 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 v2.254 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 v2.253 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 v2.252 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 v2.251 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 v2.250 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 v2.249 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 v2.248 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 v2.247 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 v2.246 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 v2.245 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 v2.244 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 v2.243 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 v2.242 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 v2.241 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 v2.240 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 v2.239 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 v2.238 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 v2.237 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 v2.236 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 v2.235 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 v2.234 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 v2.233 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 v2.232 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 v2.231 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 v2.230 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 v2.229 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 v2.228 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 v2.227 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 v2.226 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 v2.225 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 v2.224 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 v2.223 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 v2.222 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 v2.221 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 v2.220 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 v2.219 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 v2.218 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 v2.217 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 v2.216 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 v2.215 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 v2.214 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 v2.213 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 v2.212 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 v2.211 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 v2.210 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 v2.209 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 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 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 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 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 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 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 v2.204 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 v2.201 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 v2.190 FNIP1 Arina Puzriakova Tag for-review tag was added to gene: FNIP1.
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 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 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 IVNS1ABP Arina Puzriakova Tag watchlist tag was added to gene: IVNS1ABP.
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 v2.181 NCKAP1L Arina Puzriakova Tag for-review tag was added to gene: NCKAP1L.
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 v2.177 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 v2.175 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 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 v2.174 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 v2.172 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 v2.171 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 v2.170 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 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 v2.169 SEC61A1 Ivone Leong Tag watchlist tag was added to gene: SEC61A1.
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 v2.165 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 v2.154 CD4 Ivone Leong Mode of inheritance for gene: CD4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.149 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 v2.145 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 v2.139 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 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 v2.133 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 v2.127 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 v2.124 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 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 v2.90 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 v2.87 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 v2.86 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 v2.64 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 v2.62 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 v2.60 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 v2.51 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 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 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 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 v2.45 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 v2.41 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 v2.40 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 v2.38 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 v2.34 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 v2.28 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 v2.25 SLC7A7 Louise Daugherty Mode of inheritance for gene: SLC7A7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.22 POLD2 Louise Daugherty Mode of inheritance for gene: POLD2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.19 IL2RB Louise Daugherty Mode of inheritance for gene: IL2RB was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.16 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 v2.11 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 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 v2.0 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 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 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 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 v1.133 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 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 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 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 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)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 SAMD3 Louise Daugherty Source London North GLH was added to SAMD3.
Source Expert Review Red was added to SAMD3.
Source NHS GMS was added to SAMD3.
Rating Changed from No List (delete) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 PTPN22 Louise Daugherty Source London North GLH was added to PTPN22.
Source Expert Review Red was added to PTPN22.
Source NHS GMS was added to PTPN22.
Source North West GLH was added to PTPN22.
Rating Changed from No List (delete) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 POMP Louise Daugherty Source London North GLH was added to POMP.
Source NHS GMS was added to POMP.
Source North West GLH was added to POMP.
Source Expert Review Green was added to POMP.
Rating Changed from No List (delete) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 LYZ Louise Daugherty Source London North GLH was added to LYZ.
Source Expert Review Red was added to LYZ.
Source NHS GMS was added to LYZ.
Rating Changed from No List (delete) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 IL31RA Louise Daugherty Source London North GLH was added to IL31RA.
Source Expert Review Red was added to IL31RA.
Source NHS GMS was added to IL31RA.
Rating Changed from No List (delete) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.131 STAT4 Louise Daugherty gene: STAT4 was added
gene: STAT4 was added to Primary immunodeficiency. Sources:
Mode of inheritance for gene: STAT4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: STAT4 were set to {Systemic lupus erythematosus, susceptibility to, 11}, 612253
Primary immunodeficiency or monogenic inflammatory bowel disease v1.131 SAMD3 Louise Daugherty gene: SAMD3 was added
gene: SAMD3 was added to Primary immunodeficiency. Sources:
Mode of inheritance for gene: SAMD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SAMD3 were set to HLH, abnormal GRA
Primary immunodeficiency or monogenic inflammatory bowel disease v1.131 PTPN22 Louise Daugherty gene: PTPN22 was added
gene: PTPN22 was added to Primary immunodeficiency. Sources:
Mode of inheritance for gene: PTPN22 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PTPN22 were set to {Systemic lupus erythematosus susceptibility to}; Lupus susceptibility
Primary immunodeficiency or monogenic inflammatory bowel disease v1.131 POMP Louise Daugherty gene: POMP was added
gene: POMP was added to Primary immunodeficiency. Sources:
Mode of inheritance for gene: POMP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: POMP were set to 26524591
Phenotypes for gene: POMP were set to CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome); Proteasome-associated autoinflammatory syndrome 2, 618048
Primary immunodeficiency or monogenic inflammatory bowel disease v1.131 LYZ Louise Daugherty gene: LYZ was added
gene: LYZ was added to Primary immunodeficiency. Sources:
Mode of inheritance for gene: LYZ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: LYZ were set to Amyloidosis, renal, 105200
Primary immunodeficiency or monogenic inflammatory bowel disease v1.131 IL31RA Louise Daugherty gene: IL31RA was added
gene: IL31RA was added to Primary immunodeficiency. Sources:
Mode of inheritance for gene: IL31RA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: IL31RA were set to ?Amyloidosis, primary localized cutaneous 2, 613955
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 USP18 Louise Daugherty commented on gene: USP18: Pseudo TORCH syndrome: Aicardi-Goutiere like - severe intracranial haemorrhage, thrombocytopaenia, seizures, liver failure caused by interferon activation - probable green association, is it a relevant phenotype?
2 families (one homozygous, one compound het where one variant was the same as the first family with possible common ancestor) - borderline, with lack of USP18 expression - abnormal activation of the immune system (interferon) - is this a likely presentation in immunology clinic?
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 ERCC2 Louise Daugherty Source North West GLH was added to ERCC2.
Source NHS GMS was added to ERCC2.
Source London North GLH was added to ERCC2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 BLOC1S6 Louise Daugherty Source Expert Review Red was added to BLOC1S6.
Source GRID V2.0North West GLH was added to BLOC1S6.
Source GRID V2.0 was added to BLOC1S6.
Source NHS GMS was added to BLOC1S6.
Source Victorian Clinical Genetics Services, London North GLH was added to BLOC1S6.
Rating Changed from No List (delete) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.128 ERCC3 Louise Daugherty Source Expert Review Red was added to ERCC3.
Source Victorian Clinical Genetics Services was added to ERCC3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.128 ERCC2 Louise Daugherty Source Expert Review Red was added to ERCC2.
Source Victorian Clinical Genetics Services was added to ERCC2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.128 BLOC1S6 Louise Daugherty Source GRID V2.0 was added to BLOC1S6.
Source Expert Review Red was added to BLOC1S6.
Source Victorian Clinical Genetics Services, London North GLH, NHS GMS was added to BLOC1S6.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 MBL2 Louise Daugherty Tag curated-variant-list tag was added to gene: MBL2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.109 ERCC2 Louise Daugherty gene: ERCC2 was added
gene: ERCC2 was added to Primary immunodeficiency. Sources: Other
Mode of inheritance for gene: ERCC2 was set to Unknown
Phenotypes for gene: ERCC2 were set to Combined immunodeficiency (CID) in a child affected by trichothiodystrophy (TTD); CD4 + lymphopenia
Review for gene: ERCC2 was set to RED
Added comment: Sources: Other
Primary immunodeficiency or monogenic inflammatory bowel disease v1.107 BLOC1S6 Louise Daugherty Source North West GLH was added to BLOC1S6.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.103 BLOC1S6 Louise Daugherty gene: BLOC1S6 was added
gene: BLOC1S6 was added to Primary immunodeficiency. Sources: Other
Mode of inheritance for gene: BLOC1S6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLOC1S6 were set to Hermansky-pudlak syndrome 9, 614171; HPS9, palladin deficiency (NK cell defect); Immune Dysregulation
Review for gene: BLOC1S6 was set to RED
Added comment: 2 reviews
Sophie Hambleton (Newcastle University)
[email protected]
Red List (low evidence)

Only 1 reported patient (a previous report had to be retracted).
Created: 19 Jun 2018, 5:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 19 Jun 2018, 5:47 a.m.

Panel version: 0.1006
Delete
Your review
Louise Daugherty (Genomics England Curator)
[email protected]
I don't know

Comment on list classification: Changed from Amber to Red after external clinical review, only one bonafide case
Created: 20 Jun 2018, 3:10 p.m.

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After review decided to keep as Amber- currently there is only one case for HPS9 need more individuals to determine if immunodeficiency is a feature of BLOC-1 deficiency
Created: 11 May 2018, 4:31 p.m.

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Comment on publications: one one affected reported to date (2012). Added HPS gene review PMID: 20301464 (2017)
Created: 11 May 2018, 4:25 p.m.

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Comment on phenotypes: added PID phenotype
Created: 11 May 2018, 4:24 p.m.

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This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 20 Apr 2018, 12:25 p.m.

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Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: BLOC1S6, GRID_Gene_Symbol: BLOC1S6, GRID_Transcript_ENS_Community submitted: ENST00000220531, GRID_Transcript_RefSeq: NM_012388.3, GRID_Transcript_ENS_used_on_Production: ENST00000220531
Created: 17 Apr 2018, 12:12 p.m.

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Created: 17 Apr 2018, 12:12 p.m.

Panel version: 0.679
Sources: Other
Primary immunodeficiency or monogenic inflammatory bowel disease v1.99 HPS1 Louise Daugherty changed review comment from: Comment on list classification: Changed rating from Red to Green. There is strong evidence for gene:disease association, the query previously for this gene was the phenotype, however The Immunology Specialist Test Group during webex call 28th March 2019 recommended Green rating, the phenotype was relevant to the panel for GMS, and further confirmed in follow up email on 20th June (North West GLH) and 6th September (LNGLH).
The Specialist Test Group all agreed that there is enough evidence to rate this gene Green.; to: Comment on list classification: Changed rating from Red to Green. There is strong evidence for gene:disease association, the query previously for this gene was the phenotype, however The Immunology Specialist Test Group during webex call 28th March 2019 recommended Green rating, the phenotype was relevant to the panel for GMS, and further confirmed in follow up email on 20th June (North West GLH) and 6th September (London North GLH).
The Specialist Test Group all agreed that there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.99 HPS4 Louise Daugherty changed review comment from: Comment on list classification: Changed rating from Red to Green. There is strong evidence for gene:disease association, the query previously for this gene was the phenotype, however The Immunology Specialist Test Group during webex call 28th March 2019 recommended Green rating, the phenotype was relevant to the panel for GMS, and further confirmed in follow up email on 20th June (North West GLH) and 6th September (LNGLH).
The Specialist Test Group all agreed that there is enough evidence to rate this gene Green.; to: Comment on list classification: Changed rating from Red to Green. There is strong evidence for gene:disease association, the query previously for this gene was the phenotype, however The Immunology Specialist Test Group during webex call 28th March 2019 recommended Green rating, the phenotype was relevant to the panel for GMS, and further confirmed in follow up email on 20th June (North West GLH) and 6th September (London North GLH).
The Specialist Test Group all agreed that there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.99 HPS6 Louise Daugherty Added comment: Comment on list classification: Changed rating from Red to Green. There is strong evidence for gene:disease association, the query previously for this gene was the phenotype, however The Immunology Specialist Test Group during webex call 28th March 2019 recommended Green rating, the phenotype was relevant to the panel for GMS, and further confirmed in follow up email on 20th June (North West GLH) and 6th September (London North GLH).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.98 HPS1 Louise Daugherty changed review comment from: Comment on list classification: Changed rating from Red to Green. There is strong evidence for gene:disease association, the query previously for this gene was the phenotype, however Immunology Specialist Test Group during webex call 28th March 2019 recommended Green rating and phenotype was relevant to the panel for GMS, and further confirmed in follow up email on 20th June (North West GLH) and 6th September (LNGLH).
The Specialist Test Group all agreed that there is enough evidence to rate this gene Green.; to: Comment on list classification: Changed rating from Red to Green. There is strong evidence for gene:disease association, the query previously for this gene was the phenotype, however The Immunology Specialist Test Group during webex call 28th March 2019 recommended Green rating, the phenotype was relevant to the panel for GMS, and further confirmed in follow up email on 20th June (North West GLH) and 6th September (LNGLH).
The Specialist Test Group all agreed that there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.98 HPS4 Louise Daugherty Added comment: Comment on list classification: Changed rating from Red to Green. There is strong evidence for gene:disease association, the query previously for this gene was the phenotype, however The Immunology Specialist Test Group during webex call 28th March 2019 recommended Green rating, the phenotype was relevant to the panel for GMS, and further confirmed in follow up email on 20th June (North West GLH) and 6th September (LNGLH).
The Specialist Test Group all agreed that there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.96 HPS1 Louise Daugherty Added comment: Comment on list classification: Changed rating from Red to Green. There is strong evidence for gene:disease association, the query previously for this gene was the phenotype, however Immunology Specialist Test Group during webex call 28th March 2019 recommended Green rating and phenotype was relevant to the panel for GMS, and further confirmed in follow up email on 20th June (North West GLH) and 6th September (LNGLH).
The Specialist Test Group all agreed that there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 WAS Louise Daugherty commented on gene: WAS: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 WAS Louise Daugherty commented on gene: WAS: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 WAS Kimberly Gilmour reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 WAS Tracy Briggs commented on gene: WAS: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.93 SH3BP2 Louise Daugherty Source GRID V2.0 was added to SH3BP2.
Source Expert Review Red was added to SH3BP2.
Source Victorian Clinical Genetics Services was added to SH3BP2.
Source ESID Registry 20171117 was added to SH3BP2.
Source IUIS Classification February 2018 was added to SH3BP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.93 RET Louise Daugherty Source Expert Review Red was added to RET.
Source GOSH PID v.8.0 was added to RET.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.93 RANBP2 Louise Daugherty Source IUIS Classification February 2018 was added to RANBP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.93 MBL2 Louise Daugherty Source Inherited complement deficiency v0.11 was added to MBL2.
Source Expert Review Amber was added to MBL2.
Source ESID Registry 20171117 was added to MBL2.
Source GRID V2.0 was added to MBL2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.90 SH3BP2 Louise Daugherty Mode of inheritance for gene: SH3BP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary immunodeficiency or monogenic inflammatory bowel disease v1.87 RET Louise Daugherty Mode of inheritance for gene: RET was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary immunodeficiency or monogenic inflammatory bowel disease v1.85 RANBP2 Louise Daugherty Mode of inheritance for gene: RANBP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary immunodeficiency or monogenic inflammatory bowel disease v1.82 MBL2 Louise Daugherty Mode of inheritance for gene: MBL2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v1.81 MASP2 Louise Daugherty Source GRID V2.0 was added to MASP2.
Source Expert Review Red was added to MASP2.
Source Victorian Clinical Genetics Services was added to MASP2.
Source ESID Registry 20171117 was added to MASP2.
Source IUIS Classification February 2018 was added to MASP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.78 MASP2 Louise Daugherty Mode of inheritance for gene: MASP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v1.73 ERCC3 Louise Daugherty Mode of inheritance for gene: ERCC3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v1.68 BLOC1S6 Louise Daugherty Mode of inheritance for gene: BLOC1S6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v1.67 SH3BP2 Louise Daugherty Source London North GLH was added to SH3BP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.67 RET Louise Daugherty Source London North GLH was added to RET.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.67 RANBP2 Louise Daugherty Source London North GLH was added to RANBP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.67 MBL2 Louise Daugherty Source London North GLH was added to MBL2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.67 MASP2 Louise Daugherty Source London North GLH was added to MASP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.67 GTF2H5 Louise Daugherty Source London North GLH was added to GTF2H5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.67 ERCC3 Louise Daugherty Source London North GLH was added to ERCC3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.67 ERCC2 Louise Daugherty Source London North GLH was added to ERCC2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.67 BLOC1S6 Louise Daugherty Source London North GLH was added to BLOC1S6.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.66 SH3BP2 Louise Daugherty Source NHS GMS was added to SH3BP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.66 RET Louise Daugherty Source NHS GMS was added to RET.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.66 RANBP2 Louise Daugherty Source NHS GMS was added to RANBP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.66 MBL2 Louise Daugherty Source NHS GMS was added to MBL2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.66 MASP2 Louise Daugherty Source NHS GMS was added to MASP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.66 GTF2H5 Louise Daugherty Source NHS GMS was added to GTF2H5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.66 ERCC3 Louise Daugherty Source NHS GMS was added to ERCC3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.66 ERCC2 Louise Daugherty Source NHS GMS was added to ERCC2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.66 BLOC1S6 Louise Daugherty Source NHS GMS was added to BLOC1S6.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.65 SH3BP2 Louise Daugherty gene: SH3BP2 was added
gene: SH3BP2 was added to Primary immunodeficiency. Sources: North West GLH
Mode of inheritance for gene: SH3BP2 was set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.65 RET Louise Daugherty gene: RET was added
gene: RET was added to Primary immunodeficiency. Sources: North West GLH
Mode of inheritance for gene: RET was set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.65 RANBP2 Louise Daugherty gene: RANBP2 was added
gene: RANBP2 was added to Primary immunodeficiency. Sources: North West GLH
Mode of inheritance for gene: RANBP2 was set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.65 MBL2 Louise Daugherty gene: MBL2 was added
gene: MBL2 was added to Primary immunodeficiency. Sources: North West GLH
Mode of inheritance for gene: MBL2 was set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.65 MASP2 Louise Daugherty gene: MASP2 was added
gene: MASP2 was added to Primary immunodeficiency. Sources: North West GLH
Mode of inheritance for gene: MASP2 was set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.65 GTF2H5 Louise Daugherty gene: GTF2H5 was added
gene: GTF2H5 was added to Primary immunodeficiency. Sources: North West GLH
Mode of inheritance for gene: GTF2H5 was set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.65 ERCC3 Louise Daugherty gene: ERCC3 was added
gene: ERCC3 was added to Primary immunodeficiency. Sources: North West GLH
Mode of inheritance for gene: ERCC3 was set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.65 ERCC2 Louise Daugherty gene: ERCC2 was added
gene: ERCC2 was added to Primary immunodeficiency. Sources: North West GLH
Mode of inheritance for gene: ERCC2 was set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.65 BLOC1S6 Louise Daugherty gene: BLOC1S6 was added
gene: BLOC1S6 was added to Primary immunodeficiency. Sources: North West GLH
Mode of inheritance for gene: BLOC1S6 was set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 PSMB9 Louise Daugherty SH3BP2 was changed to PSMB9
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 SH3BP2 Louise Daugherty Source North West GLH was added to SH3BP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 PSMB4 Louise Daugherty RET was changed to PSMB4
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 RET Louise Daugherty Source North West GLH was added to RET.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 PSMA3 Louise Daugherty RANBP2 was changed to PSMA3
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 RANBP2 Louise Daugherty Source North West GLH was added to RANBP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 GUCY2C Louise Daugherty MBL2 was changed to GUCY2C
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 MBL2 Louise Daugherty Source North West GLH was added to MBL2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 DNASE1L3 Louise Daugherty MASP2 was changed to DNASE1L3
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 MASP2 Louise Daugherty Source North West GLH was added to MASP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 CTC1 Louise Daugherty GTF2H5 was changed to CTC1
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 GTF2H5 Louise Daugherty Source North West GLH was added to GTF2H5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 CFHR5 Louise Daugherty ERCC3 was changed to CFHR5
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 ERCC3 Louise Daugherty Source North West GLH was added to ERCC3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 AP1S3 Louise Daugherty ERCC2 was changed to AP1S3
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 ERCC2 Louise Daugherty Source North West GLH was added to ERCC2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 ADAM17 Louise Daugherty BLOC1S6 was changed to ADAM17
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 BLOC1S6 Louise Daugherty Source North West GLH was added to BLOC1S6.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.63 WDR1 Louise Daugherty Source North West GLH was added to WDR1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.63 USP18 Louise Daugherty Source North West GLH was added to USP18.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.63 TNFRSF11A Louise Daugherty Source North West GLH was added to TNFRSF11A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.63 SAMD9L Louise Daugherty Source North West GLH was added to SAMD9L.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.63 PTEN Louise Daugherty Source North West GLH was added to PTEN.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.63 PSMB9 Louise Daugherty Source North West GLH was added to PSMB9.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.63 PSMB4 Louise Daugherty Source North West GLH was added to PSMB4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.63 PSMA3 Louise Daugherty Source North West GLH was added to PSMA3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.63 GUCY2C Louise Daugherty Source North West GLH was added to GUCY2C.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.63 DNASE1L3 Louise Daugherty Source North West GLH was added to DNASE1L3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.63 CTC1 Louise Daugherty Source North West GLH was added to CTC1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.63 CFHR5 Louise Daugherty Source North West GLH was added to CFHR5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.63 AP1S3 Louise Daugherty Source North West GLH was added to AP1S3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.63 ADAM17 Louise Daugherty Source North West GLH was added to ADAM17.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.62 WDR1 Louise Daugherty Source London North GLH was added to WDR1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.62 USP18 Louise Daugherty Source London North GLH was added to USP18.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.62 TNFRSF11A Louise Daugherty Source London North GLH was added to TNFRSF11A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.62 SAMD9L Louise Daugherty Source London North GLH was added to SAMD9L.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.62 PTEN Louise Daugherty Source London North GLH was added to PTEN.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.62 PSMB9 Louise Daugherty Source London North GLH was added to PSMB9.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.62 PSMB4 Louise Daugherty Source London North GLH was added to PSMB4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.62 PSMA3 Louise Daugherty Source London North GLH was added to PSMA3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.62 GUCY2C Louise Daugherty Source London North GLH was added to GUCY2C.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.62 DNASE1L3 Louise Daugherty Source London North GLH was added to DNASE1L3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.62 CTC1 Louise Daugherty Source London North GLH was added to CTC1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.62 CFHR5 Louise Daugherty Source London North GLH was added to CFHR5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.62 AP1S3 Louise Daugherty Source London North GLH was added to AP1S3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.62 ADAM17 Louise Daugherty Source London North GLH was added to ADAM17.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.61 WDR1 Louise Daugherty Source NHS GMS was added to WDR1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.61 USP18 Louise Daugherty Source NHS GMS was added to USP18.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.61 TNFRSF11A Louise Daugherty Source NHS GMS was added to TNFRSF11A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.61 SAMD9L Louise Daugherty Source NHS GMS was added to SAMD9L.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.61 PTEN Louise Daugherty Source NHS GMS was added to PTEN.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.61 PSMB9 Louise Daugherty Source NHS GMS was added to PSMB9.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.61 PSMB4 Louise Daugherty Source NHS GMS was added to PSMB4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.61 PSMA3 Louise Daugherty Source NHS GMS was added to PSMA3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.61 GUCY2C Louise Daugherty Source NHS GMS was added to GUCY2C.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.61 DNASE1L3 Louise Daugherty Source NHS GMS was added to DNASE1L3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.61 CTC1 Louise Daugherty Source NHS GMS was added to CTC1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.61 CFHR5 Louise Daugherty Source NHS GMS was added to CFHR5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.61 AP1S3 Louise Daugherty Source NHS GMS was added to AP1S3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.61 ADAM17 Louise Daugherty Source NHS GMS was added to ADAM17.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 ZBTB24 Louise Daugherty Source NHS GMS was added to ZBTB24.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 ZAP70 Louise Daugherty Source NHS GMS was added to ZAP70.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 XIAP Louise Daugherty Source NHS GMS was added to XIAP.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 WIPF1 Louise Daugherty Source NHS GMS was added to WIPF1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 WAS Louise Daugherty Source NHS GMS was added to WAS.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 VPS45 Louise Daugherty Source NHS GMS was added to VPS45.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 VPS13B Louise Daugherty Source NHS GMS was added to VPS13B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 USB1 Louise Daugherty Source NHS GMS was added to USB1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 UNG Louise Daugherty Source NHS GMS was added to UNG.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 UNC93B1 Louise Daugherty Source NHS GMS was added to UNC93B1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 UNC13D Louise Daugherty Source NHS GMS was added to UNC13D.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 TYK2 Louise Daugherty Source NHS GMS was added to TYK2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 TTC7A Louise Daugherty Source NHS GMS was added to TTC7A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 TTC37 Louise Daugherty Source NHS GMS was added to TTC37.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 TRNT1 Louise Daugherty Source NHS GMS was added to TRNT1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 TREX1 Louise Daugherty Source NHS GMS was added to TREX1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 TRAC Louise Daugherty Source NHS GMS was added to TRAC.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 TPP2 Louise Daugherty Source NHS GMS was added to TPP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 TNFRSF1A Louise Daugherty Source NHS GMS was added to TNFRSF1A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 TNFAIP3 Louise Daugherty Source NHS GMS was added to TNFAIP3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 TMEM173 Louise Daugherty Source NHS GMS was added to TMEM173.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 TMC8 Louise Daugherty Source NHS GMS was added to TMC8.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 TMC6 Louise Daugherty Source NHS GMS was added to TMC6.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 TLR3 Louise Daugherty Source NHS GMS was added to TLR3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 TICAM1 Louise Daugherty Source NHS GMS was added to TICAM1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 TCN2 Louise Daugherty Source NHS GMS was added to TCN2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 TCF3 Louise Daugherty Source NHS GMS was added to TCF3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 TBK1 Louise Daugherty Source NHS GMS was added to TBK1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 TAZ Louise Daugherty Source NHS GMS was added to TAZ.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 TAP2 Louise Daugherty Source NHS GMS was added to TAP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 TAP1 Louise Daugherty Source NHS GMS was added to TAP1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 STXBP2 Louise Daugherty Source NHS GMS was added to STXBP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 STX11 Louise Daugherty Source NHS GMS was added to STX11.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 STK4 Louise Daugherty Source NHS GMS was added to STK4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 STIM1 Louise Daugherty Source NHS GMS was added to STIM1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 STAT5B Louise Daugherty Source NHS GMS was added to STAT5B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 STAT3 Louise Daugherty Source NHS GMS was added to STAT3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 STAT2 Louise Daugherty Source NHS GMS was added to STAT2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 STAT1 Louise Daugherty Source NHS GMS was added to STAT1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 SPPL2A Louise Daugherty Source NHS GMS was added to SPPL2A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 SPINK5 Louise Daugherty Source NHS GMS was added to SPINK5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 SP110 Louise Daugherty Source NHS GMS was added to SP110.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 SMARCAL1 Louise Daugherty Source NHS GMS was added to SMARCAL1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 SLC46A1 Louise Daugherty Source NHS GMS was added to SLC46A1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 SLC37A4 Louise Daugherty Source NHS GMS was added to SLC37A4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 SLC35C1 Louise Daugherty Source NHS GMS was added to SLC35C1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 SLC29A3 Louise Daugherty Source NHS GMS was added to SLC29A3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 SKIV2L Louise Daugherty Source NHS GMS was added to SKIV2L.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 SH2D1A Louise Daugherty Source NHS GMS was added to SH2D1A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 SGPL1 Louise Daugherty Source NHS GMS was added to SGPL1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 SERPING1 Louise Daugherty Source NHS GMS was added to SERPING1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 SBDS Louise Daugherty Source NHS GMS was added to SBDS.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 SAMHD1 Louise Daugherty Source NHS GMS was added to SAMHD1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 RTEL1 Louise Daugherty Source NHS GMS was added to RTEL1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 RPSA Louise Daugherty Source NHS GMS was added to RPSA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 RORC Louise Daugherty Source NHS GMS was added to RORC.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 RNF168 Louise Daugherty Source NHS GMS was added to RNF168.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 RNASEH2C Louise Daugherty Source NHS GMS was added to RNASEH2C.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 RNASEH2B Louise Daugherty Source NHS GMS was added to RNASEH2B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 RNASEH2A Louise Daugherty Source NHS GMS was added to RNASEH2A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 RMRP Louise Daugherty Source NHS GMS was added to RMRP.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 RIPK1 Louise Daugherty Source NHS GMS was added to RIPK1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 RFXAP Louise Daugherty Source NHS GMS was added to RFXAP.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 RFXANK Louise Daugherty Source NHS GMS was added to RFXANK.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 RFX5 Louise Daugherty Source NHS GMS was added to RFX5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 RBCK1 Louise Daugherty Source NHS GMS was added to RBCK1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 RASGRP1 Louise Daugherty Source NHS GMS was added to RASGRP1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 RAG2 Louise Daugherty Source NHS GMS was added to RAG2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 RAG1 Louise Daugherty Source NHS GMS was added to RAG1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 RAB27A Louise Daugherty Source NHS GMS was added to RAB27A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 PTPRC Louise Daugherty Source NHS GMS was added to PTPRC.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 PSTPIP1 Louise Daugherty Source NHS GMS was added to PSTPIP1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 PSMB8 Louise Daugherty Source NHS GMS was added to PSMB8.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 PRKDC Louise Daugherty Source NHS GMS was added to PRKDC.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 PRKCD Louise Daugherty Source NHS GMS was added to PRKCD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 PRF1 Louise Daugherty Source NHS GMS was added to PRF1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 POLA1 Louise Daugherty Source NHS GMS was added to POLA1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 PNP Louise Daugherty Source NHS GMS was added to PNP.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 PLCG2 Louise Daugherty Source NHS GMS was added to PLCG2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 PIK3R1 Louise Daugherty Source NHS GMS was added to PIK3R1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 PIK3CD Louise Daugherty Source NHS GMS was added to PIK3CD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 PGM3 Louise Daugherty Source NHS GMS was added to PGM3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 PEPD Louise Daugherty Source NHS GMS was added to PEPD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 PARN Louise Daugherty Source NHS GMS was added to PARN.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 OTULIN Louise Daugherty Source NHS GMS was added to OTULIN.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 ORAI1 Louise Daugherty Source NHS GMS was added to ORAI1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 NSMCE3 Louise Daugherty Source NHS GMS was added to NSMCE3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 NRAS Louise Daugherty Source NHS GMS was added to NRAS.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 NOD2 Louise Daugherty Source NHS GMS was added to NOD2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 NLRP3 Louise Daugherty Source NHS GMS was added to NLRP3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 NLRP12 Louise Daugherty Source NHS GMS was added to NLRP12.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 NLRP1 Louise Daugherty Source NHS GMS was added to NLRP1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 NLRC4 Louise Daugherty Source NHS GMS was added to NLRC4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 NHP2 Louise Daugherty Source NHS GMS was added to NHP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 NHEJ1 Louise Daugherty Source NHS GMS was added to NHEJ1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 NFKBIA Louise Daugherty Source NHS GMS was added to NFKBIA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 NFKB2 Louise Daugherty Source NHS GMS was added to NFKB2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 NFKB1 Louise Daugherty Source NHS GMS was added to NFKB1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 NCF4 Louise Daugherty Source NHS GMS was added to NCF4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 NCF2 Louise Daugherty Source NHS GMS was added to NCF2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 NCF1 Louise Daugherty Source NHS GMS was added to NCF1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 NBN Louise Daugherty Source NHS GMS was added to NBN.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 MYSM1 Louise Daugherty Source NHS GMS was added to MYSM1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 MYO5B Louise Daugherty Source NHS GMS was added to MYO5B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 MYD88 Louise Daugherty Source NHS GMS was added to MYD88.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 MVK Louise Daugherty Source NHS GMS was added to MVK.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 MTHFD1 Louise Daugherty Source NHS GMS was added to MTHFD1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 MSN Louise Daugherty Source NHS GMS was added to MSN.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 MOGS Louise Daugherty Source NHS GMS was added to MOGS.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 MEFV Louise Daugherty Source NHS GMS was added to MEFV.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 MCM4 Louise Daugherty Source NHS GMS was added to MCM4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 MAP3K14 Louise Daugherty Source NHS GMS was added to MAP3K14.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 MALT1 Louise Daugherty Source NHS GMS was added to MALT1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 MAGT1 Louise Daugherty Source NHS GMS was added to MAGT1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 LYST Louise Daugherty Source NHS GMS was added to LYST.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 LRBA Louise Daugherty Source NHS GMS was added to LRBA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 LPIN2 Louise Daugherty Source NHS GMS was added to LPIN2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 LIG4 Louise Daugherty Source NHS GMS was added to LIG4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 LCK Louise Daugherty Source NHS GMS was added to LCK.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 LAT Louise Daugherty Source NHS GMS was added to LAT.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 LAMTOR2 Louise Daugherty Source NHS GMS was added to LAMTOR2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 JAK3 Louise Daugherty Source NHS GMS was added to JAK3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 JAGN1 Louise Daugherty Source NHS GMS was added to JAGN1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 ITK Louise Daugherty Source NHS GMS was added to ITK.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 ITGB2 Louise Daugherty Source NHS GMS was added to ITGB2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 ITCH Louise Daugherty Source NHS GMS was added to ITCH.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 ISG15 Louise Daugherty Source NHS GMS was added to ISG15.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IRF8 Louise Daugherty Source NHS GMS was added to IRF8.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IRAK4 Louise Daugherty Source NHS GMS was added to IRAK4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 INO80 Louise Daugherty Source NHS GMS was added to INO80.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IL7R Louise Daugherty Source NHS GMS was added to IL7R.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IL36RN Louise Daugherty Source NHS GMS was added to IL36RN.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IL2RG Louise Daugherty Source NHS GMS was added to IL2RG.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IL2RA Louise Daugherty Source NHS GMS was added to IL2RA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IL21R Louise Daugherty Source NHS GMS was added to IL21R.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IL1RN Louise Daugherty Source NHS GMS was added to IL1RN.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IL17RC Louise Daugherty Source NHS GMS was added to IL17RC.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IL17RA Louise Daugherty Source NHS GMS was added to IL17RA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IL12RB1 Louise Daugherty Source NHS GMS was added to IL12RB1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IL12B Louise Daugherty Source NHS GMS was added to IL12B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IL10RB Louise Daugherty Source NHS GMS was added to IL10RB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IL10RA Louise Daugherty Source NHS GMS was added to IL10RA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IL10 Louise Daugherty Source NHS GMS was added to IL10.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IKZF1 Louise Daugherty Source NHS GMS was added to IKZF1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IKBKG Louise Daugherty Source NHS GMS was added to IKBKG.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IKBKB Louise Daugherty Source NHS GMS was added to IKBKB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IGLL1 Louise Daugherty Source NHS GMS was added to IGLL1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IGHM Louise Daugherty Source NHS GMS was added to IGHM.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IFNGR2 Louise Daugherty Source NHS GMS was added to IFNGR2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IFNGR1 Louise Daugherty Source NHS GMS was added to IFNGR1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IFIH1 Louise Daugherty Source NHS GMS was added to IFIH1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 ICOS Louise Daugherty Source NHS GMS was added to ICOS.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 HTRA2 Louise Daugherty Source NHS GMS was added to HTRA2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 HPS6 Louise Daugherty Source NHS GMS was added to HPS6.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 HPS4 Louise Daugherty Source NHS GMS was added to HPS4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 HPS1 Louise Daugherty Source NHS GMS was added to HPS1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 HELLS Louise Daugherty Source NHS GMS was added to HELLS.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 HAX1 Louise Daugherty Source NHS GMS was added to HAX1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 GINS1 Louise Daugherty Source NHS GMS was added to GINS1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 GFI1 Louise Daugherty Source NHS GMS was added to GFI1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 GATA2 Louise Daugherty Source NHS GMS was added to GATA2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 GATA1 Louise Daugherty Source NHS GMS was added to GATA1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 G6PD Louise Daugherty Source NHS GMS was added to G6PD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 G6PC3 Louise Daugherty Source NHS GMS was added to G6PC3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 FOXP3 Louise Daugherty Source NHS GMS was added to FOXP3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 FOXN1 Louise Daugherty Source NHS GMS was added to FOXN1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 FERMT3 Louise Daugherty Source NHS GMS was added to FERMT3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 FAT4 Louise Daugherty Source NHS GMS was added to FAT4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 FASLG Louise Daugherty Source NHS GMS was added to FASLG.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 FAS Louise Daugherty Source NHS GMS was added to FAS.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 FADD Louise Daugherty Source NHS GMS was added to FADD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 F12 Louise Daugherty Source NHS GMS was added to F12.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 EXTL3 Louise Daugherty Source NHS GMS was added to EXTL3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 ERCC6L2 Louise Daugherty Source NHS GMS was added to ERCC6L2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 EPG5 Louise Daugherty Source NHS GMS was added to EPG5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 ELANE Louise Daugherty Source NHS GMS was added to ELANE.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 DOCK8 Louise Daugherty Source NHS GMS was added to DOCK8.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 DOCK2 Louise Daugherty Source NHS GMS was added to DOCK2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 DNMT3B Louise Daugherty Source NHS GMS was added to DNMT3B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 DNASE2 Louise Daugherty Source NHS GMS was added to DNASE2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 DNAJC21 Louise Daugherty Source NHS GMS was added to DNAJC21.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 DKC1 Louise Daugherty Source NHS GMS was added to DKC1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 DCLRE1C Louise Daugherty Source NHS GMS was added to DCLRE1C.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 DCLRE1B Louise Daugherty Source NHS GMS was added to DCLRE1B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CYBB Louise Daugherty Source NHS GMS was added to CYBB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CYBA Louise Daugherty Source NHS GMS was added to CYBA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CXCR4 Louise Daugherty Source NHS GMS was added to CXCR4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CTSC Louise Daugherty Source NHS GMS was added to CTSC.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CTPS1 Louise Daugherty Source NHS GMS was added to CTPS1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CTLA4 Louise Daugherty Source NHS GMS was added to CTLA4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CSF3R Louise Daugherty Source NHS GMS was added to CSF3R.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CSF2RB Louise Daugherty Source NHS GMS was added to CSF2RB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CSF2RA Louise Daugherty Source NHS GMS was added to CSF2RA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CORO1A Louise Daugherty Source NHS GMS was added to CORO1A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 COPA Louise Daugherty Source NHS GMS was added to COPA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CLPB Louise Daugherty Source NHS GMS was added to CLPB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CIITA Louise Daugherty Source NHS GMS was added to CIITA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CHD7 Louise Daugherty Source NHS GMS was added to CHD7.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CFP Louise Daugherty Source NHS GMS was added to CFP.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CFI Louise Daugherty Source NHS GMS was added to CFI.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CFH Louise Daugherty Source NHS GMS was added to CFH.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CFD Louise Daugherty Source NHS GMS was added to CFD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CFB Louise Daugherty Source NHS GMS was added to CFB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CEBPE Louise Daugherty Source NHS GMS was added to CEBPE.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CDCA7 Louise Daugherty Source NHS GMS was added to CDCA7.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CD79B Louise Daugherty Source NHS GMS was added to CD79B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CD79A Louise Daugherty Source NHS GMS was added to CD79A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CD70 Louise Daugherty Source NHS GMS was added to CD70.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CD59 Louise Daugherty Source NHS GMS was added to CD59.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CD55 Louise Daugherty Source NHS GMS was added to CD55.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CD46 Louise Daugherty Source NHS GMS was added to CD46.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CD40LG Louise Daugherty Source NHS GMS was added to CD40LG.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CD40 Louise Daugherty Source NHS GMS was added to CD40.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CD3G Louise Daugherty Source NHS GMS was added to CD3G.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CD3E Louise Daugherty Source NHS GMS was added to CD3E.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CD3D Louise Daugherty Source NHS GMS was added to CD3D.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CD27 Louise Daugherty Source NHS GMS was added to CD27.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CD19 Louise Daugherty Source NHS GMS was added to CD19.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CCBE1 Louise Daugherty Source NHS GMS was added to CCBE1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CASP8 Louise Daugherty Source NHS GMS was added to CASP8.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CASP10 Louise Daugherty Source NHS GMS was added to CASP10.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CARMIL2 Louise Daugherty Source NHS GMS was added to CARMIL2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CARD9 Louise Daugherty Source NHS GMS was added to CARD9.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CARD14 Louise Daugherty Source NHS GMS was added to CARD14.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CARD11 Louise Daugherty Source NHS GMS was added to CARD11.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 C9 Louise Daugherty Source NHS GMS was added to C9.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 C8B Louise Daugherty Source NHS GMS was added to C8B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 C8A Louise Daugherty Source NHS GMS was added to C8A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 C7 Louise Daugherty Source NHS GMS was added to C7.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 C6 Louise Daugherty Source NHS GMS was added to C6.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 C5 Louise Daugherty Source NHS GMS was added to C5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 C4B Louise Daugherty Source NHS GMS was added to C4B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 C4A Louise Daugherty Source NHS GMS was added to C4A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 C3 Louise Daugherty Source NHS GMS was added to C3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 C2 Louise Daugherty Source NHS GMS was added to C2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 C1S Louise Daugherty Source NHS GMS was added to C1S.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 C1R Louise Daugherty Source NHS GMS was added to C1R.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 C1QC Louise Daugherty Source NHS GMS was added to C1QC.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 C1QB Louise Daugherty Source NHS GMS was added to C1QB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 C1QA Louise Daugherty Source NHS GMS was added to C1QA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 BTK Louise Daugherty Source NHS GMS was added to BTK.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 BLNK Louise Daugherty Source NHS GMS was added to BLNK.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 BLM Louise Daugherty Source NHS GMS was added to BLM.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 BACH2 Louise Daugherty Source NHS GMS was added to BACH2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 B2M Louise Daugherty Source NHS GMS was added to B2M.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 ATP6AP1 Louise Daugherty Source NHS GMS was added to ATP6AP1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 ATM Louise Daugherty Source NHS GMS was added to ATM.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 ARPC1B Louise Daugherty Source NHS GMS was added to ARPC1B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 AP3B1 Louise Daugherty Source NHS GMS was added to AP3B1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 AK2 Louise Daugherty Source NHS GMS was added to AK2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 AIRE Louise Daugherty Source NHS GMS was added to AIRE.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 AICDA Louise Daugherty Source NHS GMS was added to AICDA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 ADAR Louise Daugherty Source NHS GMS was added to ADAR.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 ADA2 Louise Daugherty Source NHS GMS was added to ADA2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 ADA Louise Daugherty Source NHS GMS was added to ADA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 ACP5 Louise Daugherty Source NHS GMS was added to ACP5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 ACD Louise Daugherty Source NHS GMS was added to ACD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 ZBTB24 Louise Daugherty Source North West GLH was added to ZBTB24.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 ZAP70 Louise Daugherty Source North West GLH was added to ZAP70.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 XIAP Louise Daugherty Source North West GLH was added to XIAP.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 WIPF1 Louise Daugherty Source North West GLH was added to WIPF1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 WAS Louise Daugherty Source North West GLH was added to WAS.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 VPS45 Louise Daugherty Source North West GLH was added to VPS45.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 VPS13B Louise Daugherty Source North West GLH was added to VPS13B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 USB1 Louise Daugherty Source North West GLH was added to USB1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 UNG Louise Daugherty Source North West GLH was added to UNG.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 UNC93B1 Louise Daugherty Source North West GLH was added to UNC93B1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 UNC13D Louise Daugherty Source North West GLH was added to UNC13D.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 TYK2 Louise Daugherty Source North West GLH was added to TYK2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 TTC7A Louise Daugherty Source North West GLH was added to TTC7A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 TTC37 Louise Daugherty Source North West GLH was added to TTC37.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 TRNT1 Louise Daugherty Source North West GLH was added to TRNT1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 TREX1 Louise Daugherty Source North West GLH was added to TREX1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 TRAC Louise Daugherty Source North West GLH was added to TRAC.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 TPP2 Louise Daugherty Source North West GLH was added to TPP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 TNFRSF1A Louise Daugherty Source North West GLH was added to TNFRSF1A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 TNFAIP3 Louise Daugherty Source North West GLH was added to TNFAIP3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 TMEM173 Louise Daugherty Source North West GLH was added to TMEM173.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 TMC8 Louise Daugherty Source North West GLH was added to TMC8.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 TMC6 Louise Daugherty Source North West GLH was added to TMC6.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 TLR3 Louise Daugherty Source North West GLH was added to TLR3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 TICAM1 Louise Daugherty Source North West GLH was added to TICAM1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 TCN2 Louise Daugherty Source North West GLH was added to TCN2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 TCF3 Louise Daugherty Source North West GLH was added to TCF3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 TBK1 Louise Daugherty Source North West GLH was added to TBK1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 TAZ Louise Daugherty Source North West GLH was added to TAZ.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 TAP2 Louise Daugherty Source North West GLH was added to TAP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 TAP1 Louise Daugherty Source North West GLH was added to TAP1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 STXBP2 Louise Daugherty Source North West GLH was added to STXBP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 STX11 Louise Daugherty Source North West GLH was added to STX11.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 STK4 Louise Daugherty Source North West GLH was added to STK4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 STIM1 Louise Daugherty Source North West GLH was added to STIM1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 STAT5B Louise Daugherty Source North West GLH was added to STAT5B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 STAT3 Louise Daugherty Source North West GLH was added to STAT3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 STAT2 Louise Daugherty Source North West GLH was added to STAT2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 STAT1 Louise Daugherty Source North West GLH was added to STAT1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 SPPL2A Louise Daugherty Source North West GLH was added to SPPL2A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 SPINK5 Louise Daugherty Source North West GLH was added to SPINK5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 SP110 Louise Daugherty Source North West GLH was added to SP110.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 SMARCAL1 Louise Daugherty Source North West GLH was added to SMARCAL1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 SLC46A1 Louise Daugherty Source North West GLH was added to SLC46A1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 SLC37A4 Louise Daugherty Source North West GLH was added to SLC37A4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 SLC35C1 Louise Daugherty Source North West GLH was added to SLC35C1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 SLC29A3 Louise Daugherty Source North West GLH was added to SLC29A3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 SKIV2L Louise Daugherty Source North West GLH was added to SKIV2L.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 SH2D1A Louise Daugherty Source North West GLH was added to SH2D1A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 SGPL1 Louise Daugherty Source North West GLH was added to SGPL1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 SERPING1 Louise Daugherty Source North West GLH was added to SERPING1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 SBDS Louise Daugherty Source North West GLH was added to SBDS.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 SAMHD1 Louise Daugherty Source North West GLH was added to SAMHD1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 RTEL1 Louise Daugherty Source North West GLH was added to RTEL1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 RPSA Louise Daugherty Source North West GLH was added to RPSA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 RORC Louise Daugherty Source North West GLH was added to RORC.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 RNF168 Louise Daugherty Source North West GLH was added to RNF168.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 RNASEH2C Louise Daugherty Source North West GLH was added to RNASEH2C.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 RNASEH2B Louise Daugherty Source North West GLH was added to RNASEH2B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 RNASEH2A Louise Daugherty Source North West GLH was added to RNASEH2A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 RMRP Louise Daugherty Source North West GLH was added to RMRP.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 RIPK1 Louise Daugherty Source North West GLH was added to RIPK1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 RFXAP Louise Daugherty Source North West GLH was added to RFXAP.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 RFXANK Louise Daugherty Source North West GLH was added to RFXANK.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 RFX5 Louise Daugherty Source North West GLH was added to RFX5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 RBCK1 Louise Daugherty Source North West GLH was added to RBCK1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 RASGRP1 Louise Daugherty Source North West GLH was added to RASGRP1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 RAG2 Louise Daugherty Source North West GLH was added to RAG2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 RAG1 Louise Daugherty Source North West GLH was added to RAG1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 RAB27A Louise Daugherty Source North West GLH was added to RAB27A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 PTPRC Louise Daugherty Source North West GLH was added to PTPRC.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 PSTPIP1 Louise Daugherty Source North West GLH was added to PSTPIP1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 PSMB8 Louise Daugherty Source North West GLH was added to PSMB8.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 PRKDC Louise Daugherty Source North West GLH was added to PRKDC.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 PRKCD Louise Daugherty Source North West GLH was added to PRKCD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 PRF1 Louise Daugherty Source North West GLH was added to PRF1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 POLA1 Louise Daugherty Source North West GLH was added to POLA1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 PNP Louise Daugherty Source North West GLH was added to PNP.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 PLCG2 Louise Daugherty Source North West GLH was added to PLCG2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 PIK3R1 Louise Daugherty Source North West GLH was added to PIK3R1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 PIK3CD Louise Daugherty Source North West GLH was added to PIK3CD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 PGM3 Louise Daugherty Source North West GLH was added to PGM3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 PEPD Louise Daugherty Source North West GLH was added to PEPD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 PARN Louise Daugherty Source North West GLH was added to PARN.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 OTULIN Louise Daugherty Source North West GLH was added to OTULIN.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 ORAI1 Louise Daugherty Source North West GLH was added to ORAI1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 NSMCE3 Louise Daugherty Source North West GLH was added to NSMCE3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 NRAS Louise Daugherty Source North West GLH was added to NRAS.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 NOD2 Louise Daugherty Source North West GLH was added to NOD2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 NLRP3 Louise Daugherty Source North West GLH was added to NLRP3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 NLRP12 Louise Daugherty Source North West GLH was added to NLRP12.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 NLRP1 Louise Daugherty Source North West GLH was added to NLRP1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 NLRC4 Louise Daugherty Source North West GLH was added to NLRC4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 NHP2 Louise Daugherty Source North West GLH was added to NHP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 NHEJ1 Louise Daugherty Source North West GLH was added to NHEJ1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 NFKBIA Louise Daugherty Source North West GLH was added to NFKBIA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 NFKB2 Louise Daugherty Source North West GLH was added to NFKB2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 NFKB1 Louise Daugherty Source North West GLH was added to NFKB1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 NCF4 Louise Daugherty Source North West GLH was added to NCF4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 NCF2 Louise Daugherty Source North West GLH was added to NCF2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 NCF1 Louise Daugherty Source North West GLH was added to NCF1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 NBN Louise Daugherty Source North West GLH was added to NBN.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 MYSM1 Louise Daugherty Source North West GLH was added to MYSM1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 MYO5B Louise Daugherty Source North West GLH was added to MYO5B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 MYD88 Louise Daugherty Source North West GLH was added to MYD88.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 MVK Louise Daugherty Source North West GLH was added to MVK.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 MTHFD1 Louise Daugherty Source North West GLH was added to MTHFD1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 MSN Louise Daugherty Source North West GLH was added to MSN.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 MOGS Louise Daugherty Source North West GLH was added to MOGS.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 MEFV Louise Daugherty Source North West GLH was added to MEFV.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 MCM4 Louise Daugherty Source North West GLH was added to MCM4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 MAP3K14 Louise Daugherty Source North West GLH was added to MAP3K14.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 MALT1 Louise Daugherty Source North West GLH was added to MALT1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 MAGT1 Louise Daugherty Source North West GLH was added to MAGT1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 LYST Louise Daugherty Source North West GLH was added to LYST.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 LRBA Louise Daugherty Source North West GLH was added to LRBA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 LPIN2 Louise Daugherty Source North West GLH was added to LPIN2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 LIG4 Louise Daugherty Source North West GLH was added to LIG4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 LCK Louise Daugherty Source North West GLH was added to LCK.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 LAT Louise Daugherty Source North West GLH was added to LAT.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 LAMTOR2 Louise Daugherty Source North West GLH was added to LAMTOR2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 JAK3 Louise Daugherty Source North West GLH was added to JAK3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 JAGN1 Louise Daugherty Source North West GLH was added to JAGN1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 ITK Louise Daugherty Source North West GLH was added to ITK.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 ITGB2 Louise Daugherty Source North West GLH was added to ITGB2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 ITCH Louise Daugherty Source North West GLH was added to ITCH.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 ISG15 Louise Daugherty Source North West GLH was added to ISG15.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IRF8 Louise Daugherty Source North West GLH was added to IRF8.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IRAK4 Louise Daugherty Source North West GLH was added to IRAK4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 INO80 Louise Daugherty Source North West GLH was added to INO80.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IL7R Louise Daugherty Source North West GLH was added to IL7R.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IL36RN Louise Daugherty Source North West GLH was added to IL36RN.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IL2RG Louise Daugherty Source North West GLH was added to IL2RG.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IL2RA Louise Daugherty Source North West GLH was added to IL2RA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IL21R Louise Daugherty Source North West GLH was added to IL21R.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IL1RN Louise Daugherty Source North West GLH was added to IL1RN.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IL17RC Louise Daugherty Source North West GLH was added to IL17RC.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IL17RA Louise Daugherty Source North West GLH was added to IL17RA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IL12RB1 Louise Daugherty Source North West GLH was added to IL12RB1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IL12B Louise Daugherty Source North West GLH was added to IL12B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IL10RB Louise Daugherty Source North West GLH was added to IL10RB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IL10RA Louise Daugherty Source North West GLH was added to IL10RA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IL10 Louise Daugherty Source North West GLH was added to IL10.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IKZF1 Louise Daugherty Source North West GLH was added to IKZF1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IKBKG Louise Daugherty Source North West GLH was added to IKBKG.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IKBKB Louise Daugherty Source North West GLH was added to IKBKB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IGLL1 Louise Daugherty Source North West GLH was added to IGLL1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IGHM Louise Daugherty Source North West GLH was added to IGHM.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IFNGR2 Louise Daugherty Source North West GLH was added to IFNGR2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IFNGR1 Louise Daugherty Source North West GLH was added to IFNGR1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IFIH1 Louise Daugherty Source North West GLH was added to IFIH1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 ICOS Louise Daugherty Source North West GLH was added to ICOS.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 HTRA2 Louise Daugherty Source North West GLH was added to HTRA2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 HPS6 Louise Daugherty Source North West GLH was added to HPS6.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 HPS4 Louise Daugherty Source North West GLH was added to HPS4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 HPS1 Louise Daugherty Source North West GLH was added to HPS1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 HELLS Louise Daugherty Source North West GLH was added to HELLS.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 HAX1 Louise Daugherty Source North West GLH was added to HAX1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 GINS1 Louise Daugherty Source North West GLH was added to GINS1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 GFI1 Louise Daugherty Source North West GLH was added to GFI1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 GATA2 Louise Daugherty Source North West GLH was added to GATA2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 GATA1 Louise Daugherty Source North West GLH was added to GATA1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 G6PD Louise Daugherty Source North West GLH was added to G6PD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 G6PC3 Louise Daugherty Source North West GLH was added to G6PC3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 FOXP3 Louise Daugherty Source North West GLH was added to FOXP3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 FOXN1 Louise Daugherty Source North West GLH was added to FOXN1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 FERMT3 Louise Daugherty Source North West GLH was added to FERMT3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 FAT4 Louise Daugherty Source North West GLH was added to FAT4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 FASLG Louise Daugherty Source North West GLH was added to FASLG.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 FAS Louise Daugherty Source North West GLH was added to FAS.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 FADD Louise Daugherty Source North West GLH was added to FADD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 F12 Louise Daugherty Source North West GLH was added to F12.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 EXTL3 Louise Daugherty Source North West GLH was added to EXTL3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 ERCC6L2 Louise Daugherty Source North West GLH was added to ERCC6L2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 EPG5 Louise Daugherty Source North West GLH was added to EPG5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 ELANE Louise Daugherty Source North West GLH was added to ELANE.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 DOCK8 Louise Daugherty Source North West GLH was added to DOCK8.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 DOCK2 Louise Daugherty Source North West GLH was added to DOCK2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 DNMT3B Louise Daugherty Source North West GLH was added to DNMT3B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 DNASE2 Louise Daugherty Source North West GLH was added to DNASE2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 DNAJC21 Louise Daugherty Source North West GLH was added to DNAJC21.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 DKC1 Louise Daugherty Source North West GLH was added to DKC1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 DCLRE1C Louise Daugherty Source North West GLH was added to DCLRE1C.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 DCLRE1B Louise Daugherty Source North West GLH was added to DCLRE1B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CYBB Louise Daugherty Source North West GLH was added to CYBB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CYBA Louise Daugherty Source North West GLH was added to CYBA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CXCR4 Louise Daugherty Source North West GLH was added to CXCR4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CTSC Louise Daugherty Source North West GLH was added to CTSC.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CTPS1 Louise Daugherty Source North West GLH was added to CTPS1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CTLA4 Louise Daugherty Source North West GLH was added to CTLA4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CSF3R Louise Daugherty Source North West GLH was added to CSF3R.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CSF2RB Louise Daugherty Source North West GLH was added to CSF2RB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CSF2RA Louise Daugherty Source North West GLH was added to CSF2RA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CORO1A Louise Daugherty Source North West GLH was added to CORO1A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 COPA Louise Daugherty Source North West GLH was added to COPA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CLPB Louise Daugherty Source North West GLH was added to CLPB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CIITA Louise Daugherty Source North West GLH was added to CIITA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CHD7 Louise Daugherty Source North West GLH was added to CHD7.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CFP Louise Daugherty Source North West GLH was added to CFP.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CFI Louise Daugherty Source North West GLH was added to CFI.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CFH Louise Daugherty Source North West GLH was added to CFH.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CFD Louise Daugherty Source North West GLH was added to CFD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CFB Louise Daugherty Source North West GLH was added to CFB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CEBPE Louise Daugherty Source North West GLH was added to CEBPE.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CDCA7 Louise Daugherty Source North West GLH was added to CDCA7.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CD79B Louise Daugherty Source North West GLH was added to CD79B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CD79A Louise Daugherty Source North West GLH was added to CD79A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CD70 Louise Daugherty Source North West GLH was added to CD70.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CD59 Louise Daugherty Source North West GLH was added to CD59.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CD55 Louise Daugherty Source North West GLH was added to CD55.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CD46 Louise Daugherty Source North West GLH was added to CD46.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CD40LG Louise Daugherty Source North West GLH was added to CD40LG.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CD40 Louise Daugherty Source North West GLH was added to CD40.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CD3G Louise Daugherty Source North West GLH was added to CD3G.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CD3E Louise Daugherty Source North West GLH was added to CD3E.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CD3D Louise Daugherty Source North West GLH was added to CD3D.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CD27 Louise Daugherty Source North West GLH was added to CD27.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CD19 Louise Daugherty Source North West GLH was added to CD19.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CCBE1 Louise Daugherty Source North West GLH was added to CCBE1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CASP8 Louise Daugherty Source North West GLH was added to CASP8.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CASP10 Louise Daugherty Source North West GLH was added to CASP10.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CARMIL2 Louise Daugherty Source North West GLH was added to CARMIL2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CARD9 Louise Daugherty Source North West GLH was added to CARD9.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CARD14 Louise Daugherty Source North West GLH was added to CARD14.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CARD11 Louise Daugherty Source North West GLH was added to CARD11.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 C9 Louise Daugherty Source North West GLH was added to C9.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 C8B Louise Daugherty Source North West GLH was added to C8B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 C8A Louise Daugherty Source North West GLH was added to C8A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 C7 Louise Daugherty Source North West GLH was added to C7.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 C6 Louise Daugherty Source North West GLH was added to C6.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 C5 Louise Daugherty Source North West GLH was added to C5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 C4B Louise Daugherty Source North West GLH was added to C4B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 C4A Louise Daugherty Source North West GLH was added to C4A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 C3 Louise Daugherty Source North West GLH was added to C3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 C2 Louise Daugherty Source North West GLH was added to C2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 C1S Louise Daugherty Source North West GLH was added to C1S.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 C1R Louise Daugherty Source North West GLH was added to C1R.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 C1QC Louise Daugherty Source North West GLH was added to C1QC.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 C1QB Louise Daugherty Source North West GLH was added to C1QB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 C1QA Louise Daugherty Source North West GLH was added to C1QA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 BTK Louise Daugherty Source North West GLH was added to BTK.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 BLNK Louise Daugherty Source North West GLH was added to BLNK.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 BLM Louise Daugherty Source North West GLH was added to BLM.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 BACH2 Louise Daugherty Source North West GLH was added to BACH2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 B2M Louise Daugherty Source North West GLH was added to B2M.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 ATP6AP1 Louise Daugherty Source North West GLH was added to ATP6AP1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 ATM Louise Daugherty Source North West GLH was added to ATM.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 ARPC1B Louise Daugherty Source North West GLH was added to ARPC1B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 AP3B1 Louise Daugherty Source North West GLH was added to AP3B1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 AK2 Louise Daugherty Source North West GLH was added to AK2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 AIRE Louise Daugherty Source North West GLH was added to AIRE.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 AICDA Louise Daugherty Source North West GLH was added to AICDA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 ADAR Louise Daugherty Source North West GLH was added to ADAR.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 ADA2 Louise Daugherty Source North West GLH was added to ADA2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 ADA Louise Daugherty Source North West GLH was added to ADA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 ACP5 Louise Daugherty Source North West GLH was added to ACP5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 ACD Louise Daugherty Source North West GLH was added to ACD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 ZBTB24 Louise Daugherty Source London North GLH was added to ZBTB24.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 ZAP70 Louise Daugherty Source London North GLH was added to ZAP70.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 XIAP Louise Daugherty Source London North GLH was added to XIAP.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 WIPF1 Louise Daugherty Source London North GLH was added to WIPF1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 WAS Louise Daugherty Source London North GLH was added to WAS.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 VPS45 Louise Daugherty Source London North GLH was added to VPS45.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 VPS13B Louise Daugherty Source London North GLH was added to VPS13B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 USB1 Louise Daugherty Source London North GLH was added to USB1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 UNG Louise Daugherty Source London North GLH was added to UNG.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 UNC93B1 Louise Daugherty Source London North GLH was added to UNC93B1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 UNC13D Louise Daugherty Source London North GLH was added to UNC13D.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 TYK2 Louise Daugherty Source London North GLH was added to TYK2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 TTC7A Louise Daugherty Source London North GLH was added to TTC7A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 TTC37 Louise Daugherty Source London North GLH was added to TTC37.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 TRNT1 Louise Daugherty Source London North GLH was added to TRNT1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 TREX1 Louise Daugherty Source London North GLH was added to TREX1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 TRAC Louise Daugherty Source London North GLH was added to TRAC.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 TPP2 Louise Daugherty Source London North GLH was added to TPP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 TNFRSF1A Louise Daugherty Source London North GLH was added to TNFRSF1A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 TNFAIP3 Louise Daugherty Source London North GLH was added to TNFAIP3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 TMEM173 Louise Daugherty Source London North GLH was added to TMEM173.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 TMC8 Louise Daugherty Source London North GLH was added to TMC8.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 TMC6 Louise Daugherty Source London North GLH was added to TMC6.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 TLR3 Louise Daugherty Source London North GLH was added to TLR3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 TICAM1 Louise Daugherty Source London North GLH was added to TICAM1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 TCN2 Louise Daugherty Source London North GLH was added to TCN2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 TCF3 Louise Daugherty Source London North GLH was added to TCF3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 TBK1 Louise Daugherty Source London North GLH was added to TBK1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 TAZ Louise Daugherty Source London North GLH was added to TAZ.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 TAP2 Louise Daugherty Source London North GLH was added to TAP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 TAP1 Louise Daugherty Source London North GLH was added to TAP1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 STXBP2 Louise Daugherty Source London North GLH was added to STXBP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 STX11 Louise Daugherty Source London North GLH was added to STX11.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 STK4 Louise Daugherty Source London North GLH was added to STK4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 STIM1 Louise Daugherty Source London North GLH was added to STIM1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 STAT5B Louise Daugherty Source London North GLH was added to STAT5B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 STAT3 Louise Daugherty Source London North GLH was added to STAT3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 STAT2 Louise Daugherty Source London North GLH was added to STAT2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 STAT1 Louise Daugherty Source London North GLH was added to STAT1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 SPPL2A Louise Daugherty Source London North GLH was added to SPPL2A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 SPINK5 Louise Daugherty Source London North GLH was added to SPINK5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 SP110 Louise Daugherty Source London North GLH was added to SP110.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 SMARCAL1 Louise Daugherty Source London North GLH was added to SMARCAL1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 SLC46A1 Louise Daugherty Source London North GLH was added to SLC46A1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 SLC37A4 Louise Daugherty Source London North GLH was added to SLC37A4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 SLC35C1 Louise Daugherty Source London North GLH was added to SLC35C1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 SLC29A3 Louise Daugherty Source London North GLH was added to SLC29A3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 SKIV2L Louise Daugherty Source London North GLH was added to SKIV2L.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 SH2D1A Louise Daugherty Source London North GLH was added to SH2D1A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 SGPL1 Louise Daugherty Source London North GLH was added to SGPL1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 SERPING1 Louise Daugherty Source London North GLH was added to SERPING1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 SBDS Louise Daugherty Source London North GLH was added to SBDS.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 SAMHD1 Louise Daugherty Source London North GLH was added to SAMHD1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 RTEL1 Louise Daugherty Source London North GLH was added to RTEL1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 RPSA Louise Daugherty Source London North GLH was added to RPSA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 RORC Louise Daugherty Source London North GLH was added to RORC.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 RNF168 Louise Daugherty Source London North GLH was added to RNF168.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 RNASEH2C Louise Daugherty Source London North GLH was added to RNASEH2C.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 RNASEH2B Louise Daugherty Source London North GLH was added to RNASEH2B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 RNASEH2A Louise Daugherty Source London North GLH was added to RNASEH2A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 RMRP Louise Daugherty Source London North GLH was added to RMRP.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 RIPK1 Louise Daugherty Source London North GLH was added to RIPK1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 RFXAP Louise Daugherty Source London North GLH was added to RFXAP.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 RFXANK Louise Daugherty Source London North GLH was added to RFXANK.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 RFX5 Louise Daugherty Source London North GLH was added to RFX5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 RBCK1 Louise Daugherty Source London North GLH was added to RBCK1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 RASGRP1 Louise Daugherty Source London North GLH was added to RASGRP1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 RAG2 Louise Daugherty Source London North GLH was added to RAG2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 RAG1 Louise Daugherty Source London North GLH was added to RAG1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 RAB27A Louise Daugherty Source London North GLH was added to RAB27A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 PTPRC Louise Daugherty Source London North GLH was added to PTPRC.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 PSTPIP1 Louise Daugherty Source London North GLH was added to PSTPIP1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 PSMB8 Louise Daugherty Source London North GLH was added to PSMB8.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 PRKDC Louise Daugherty Source London North GLH was added to PRKDC.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 PRKCD Louise Daugherty Source London North GLH was added to PRKCD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 PRF1 Louise Daugherty Source London North GLH was added to PRF1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 POLA1 Louise Daugherty Source London North GLH was added to POLA1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 PNP Louise Daugherty Source London North GLH was added to PNP.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 PLCG2 Louise Daugherty Source London North GLH was added to PLCG2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 PIK3R1 Louise Daugherty Source London North GLH was added to PIK3R1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 PIK3CD Louise Daugherty Source London North GLH was added to PIK3CD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 PGM3 Louise Daugherty Source London North GLH was added to PGM3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 PEPD Louise Daugherty Source London North GLH was added to PEPD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 PARN Louise Daugherty Source London North GLH was added to PARN.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 OTULIN Louise Daugherty Source London North GLH was added to OTULIN.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 ORAI1 Louise Daugherty Source London North GLH was added to ORAI1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 NSMCE3 Louise Daugherty Source London North GLH was added to NSMCE3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 NRAS Louise Daugherty Source London North GLH was added to NRAS.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 NOD2 Louise Daugherty Source London North GLH was added to NOD2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 NLRP3 Louise Daugherty Source London North GLH was added to NLRP3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 NLRP12 Louise Daugherty Source London North GLH was added to NLRP12.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 NLRP1 Louise Daugherty Source London North GLH was added to NLRP1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 NLRC4 Louise Daugherty Source London North GLH was added to NLRC4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 NHP2 Louise Daugherty Source London North GLH was added to NHP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 NHEJ1 Louise Daugherty Source London North GLH was added to NHEJ1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 NFKBIA Louise Daugherty Source London North GLH was added to NFKBIA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 NFKB2 Louise Daugherty Source London North GLH was added to NFKB2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 NFKB1 Louise Daugherty Source London North GLH was added to NFKB1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 NCF4 Louise Daugherty Source London North GLH was added to NCF4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 NCF2 Louise Daugherty Source London North GLH was added to NCF2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 NCF1 Louise Daugherty Source London North GLH was added to NCF1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 NBN Louise Daugherty Source London North GLH was added to NBN.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 MYSM1 Louise Daugherty Source London North GLH was added to MYSM1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 MYO5B Louise Daugherty Source London North GLH was added to MYO5B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 MYD88 Louise Daugherty Source London North GLH was added to MYD88.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 MVK Louise Daugherty Source London North GLH was added to MVK.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 MTHFD1 Louise Daugherty Source London North GLH was added to MTHFD1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 MSN Louise Daugherty Source London North GLH was added to MSN.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 MOGS Louise Daugherty Source London North GLH was added to MOGS.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 MEFV Louise Daugherty Source London North GLH was added to MEFV.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 MCM4 Louise Daugherty Source London North GLH was added to MCM4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 MAP3K14 Louise Daugherty Source London North GLH was added to MAP3K14.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 MALT1 Louise Daugherty Source London North GLH was added to MALT1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 MAGT1 Louise Daugherty Source London North GLH was added to MAGT1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 LYST Louise Daugherty Source London North GLH was added to LYST.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 LRBA Louise Daugherty Source London North GLH was added to LRBA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 LPIN2 Louise Daugherty Source London North GLH was added to LPIN2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 LIG4 Louise Daugherty Source London North GLH was added to LIG4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 LCK Louise Daugherty Source London North GLH was added to LCK.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 LAT Louise Daugherty Source London North GLH was added to LAT.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 LAMTOR2 Louise Daugherty Source London North GLH was added to LAMTOR2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 JAK3 Louise Daugherty Source London North GLH was added to JAK3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 JAGN1 Louise Daugherty Source London North GLH was added to JAGN1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 ITK Louise Daugherty Source London North GLH was added to ITK.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 ITGB2 Louise Daugherty Source London North GLH was added to ITGB2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 ITCH Louise Daugherty Source London North GLH was added to ITCH.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 ISG15 Louise Daugherty Source London North GLH was added to ISG15.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IRF8 Louise Daugherty Source London North GLH was added to IRF8.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IRAK4 Louise Daugherty Source London North GLH was added to IRAK4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 INO80 Louise Daugherty Source London North GLH was added to INO80.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IL7R Louise Daugherty Source London North GLH was added to IL7R.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IL36RN Louise Daugherty Source London North GLH was added to IL36RN.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IL2RG Louise Daugherty Source London North GLH was added to IL2RG.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IL2RA Louise Daugherty Source London North GLH was added to IL2RA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IL21R Louise Daugherty Source London North GLH was added to IL21R.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IL1RN Louise Daugherty Source London North GLH was added to IL1RN.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IL17RC Louise Daugherty Source London North GLH was added to IL17RC.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IL17RA Louise Daugherty Source London North GLH was added to IL17RA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IL12RB1 Louise Daugherty Source London North GLH was added to IL12RB1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IL12B Louise Daugherty Source London North GLH was added to IL12B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IL10RB Louise Daugherty Source London North GLH was added to IL10RB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IL10RA Louise Daugherty Source London North GLH was added to IL10RA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IL10 Louise Daugherty Source London North GLH was added to IL10.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IKZF1 Louise Daugherty Source London North GLH was added to IKZF1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IKBKG Louise Daugherty Source London North GLH was added to IKBKG.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IKBKB Louise Daugherty Source London North GLH was added to IKBKB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IGLL1 Louise Daugherty Source London North GLH was added to IGLL1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IGHM Louise Daugherty Source London North GLH was added to IGHM.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IFNGR2 Louise Daugherty Source London North GLH was added to IFNGR2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IFNGR1 Louise Daugherty Source London North GLH was added to IFNGR1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IFIH1 Louise Daugherty Source London North GLH was added to IFIH1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 ICOS Louise Daugherty Source London North GLH was added to ICOS.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 HTRA2 Louise Daugherty Source London North GLH was added to HTRA2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 HPS6 Louise Daugherty Source London North GLH was added to HPS6.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 HPS4 Louise Daugherty Source London North GLH was added to HPS4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 HPS1 Louise Daugherty Source London North GLH was added to HPS1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 HELLS Louise Daugherty Source London North GLH was added to HELLS.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 HAX1 Louise Daugherty Source London North GLH was added to HAX1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 GINS1 Louise Daugherty Source London North GLH was added to GINS1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 GFI1 Louise Daugherty Source London North GLH was added to GFI1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 GATA2 Louise Daugherty Source London North GLH was added to GATA2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 GATA1 Louise Daugherty Source London North GLH was added to GATA1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 G6PD Louise Daugherty Source London North GLH was added to G6PD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 G6PC3 Louise Daugherty Source London North GLH was added to G6PC3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 FOXP3 Louise Daugherty Source London North GLH was added to FOXP3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 FOXN1 Louise Daugherty Source London North GLH was added to FOXN1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 FERMT3 Louise Daugherty Source London North GLH was added to FERMT3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 FAT4 Louise Daugherty Source London North GLH was added to FAT4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 FASLG Louise Daugherty Source London North GLH was added to FASLG.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 FAS Louise Daugherty Source London North GLH was added to FAS.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 FADD Louise Daugherty Source London North GLH was added to FADD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 F12 Louise Daugherty Source London North GLH was added to F12.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 EXTL3 Louise Daugherty Source London North GLH was added to EXTL3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 ERCC6L2 Louise Daugherty Source London North GLH was added to ERCC6L2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 EPG5 Louise Daugherty Source London North GLH was added to EPG5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 ELANE Louise Daugherty Source London North GLH was added to ELANE.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 DOCK8 Louise Daugherty Source London North GLH was added to DOCK8.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 DOCK2 Louise Daugherty Source London North GLH was added to DOCK2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 DNMT3B Louise Daugherty Source London North GLH was added to DNMT3B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 DNASE2 Louise Daugherty Source London North GLH was added to DNASE2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 DNAJC21 Louise Daugherty Source London North GLH was added to DNAJC21.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 DKC1 Louise Daugherty Source London North GLH was added to DKC1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 DCLRE1C Louise Daugherty Source London North GLH was added to DCLRE1C.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 DCLRE1B Louise Daugherty Source London North GLH was added to DCLRE1B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CYBB Louise Daugherty Source London North GLH was added to CYBB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CYBA Louise Daugherty Source London North GLH was added to CYBA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CXCR4 Louise Daugherty Source London North GLH was added to CXCR4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CTSC Louise Daugherty Source London North GLH was added to CTSC.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CTPS1 Louise Daugherty Source London North GLH was added to CTPS1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CTLA4 Louise Daugherty Source London North GLH was added to CTLA4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CSF3R Louise Daugherty Source London North GLH was added to CSF3R.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CSF2RB Louise Daugherty Source London North GLH was added to CSF2RB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CSF2RA Louise Daugherty Source London North GLH was added to CSF2RA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CORO1A Louise Daugherty Source London North GLH was added to CORO1A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 COPA Louise Daugherty Source London North GLH was added to COPA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CLPB Louise Daugherty Source London North GLH was added to CLPB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CIITA Louise Daugherty Source London North GLH was added to CIITA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CHD7 Louise Daugherty Source London North GLH was added to CHD7.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CFP Louise Daugherty Source London North GLH was added to CFP.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CFI Louise Daugherty Source London North GLH was added to CFI.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CFH Louise Daugherty Source London North GLH was added to CFH.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CFD Louise Daugherty Source London North GLH was added to CFD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CFB Louise Daugherty Source London North GLH was added to CFB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CEBPE Louise Daugherty Source London North GLH was added to CEBPE.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CDCA7 Louise Daugherty Source London North GLH was added to CDCA7.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CD79B Louise Daugherty Source London North GLH was added to CD79B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CD79A Louise Daugherty Source London North GLH was added to CD79A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CD70 Louise Daugherty Source London North GLH was added to CD70.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CD59 Louise Daugherty Source London North GLH was added to CD59.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CD55 Louise Daugherty Source London North GLH was added to CD55.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CD46 Louise Daugherty Source London North GLH was added to CD46.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CD40LG Louise Daugherty Source London North GLH was added to CD40LG.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CD40 Louise Daugherty Source London North GLH was added to CD40.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CD3G Louise Daugherty Source London North GLH was added to CD3G.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CD3E Louise Daugherty Source London North GLH was added to CD3E.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CD3D Louise Daugherty Source London North GLH was added to CD3D.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CD27 Louise Daugherty Source London North GLH was added to CD27.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CD19 Louise Daugherty Source London North GLH was added to CD19.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CCBE1 Louise Daugherty Source London North GLH was added to CCBE1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CASP8 Louise Daugherty Source London North GLH was added to CASP8.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CASP10 Louise Daugherty Source London North GLH was added to CASP10.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CARMIL2 Louise Daugherty Source London North GLH was added to CARMIL2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CARD9 Louise Daugherty Source London North GLH was added to CARD9.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CARD14 Louise Daugherty Source London North GLH was added to CARD14.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CARD11 Louise Daugherty Source London North GLH was added to CARD11.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 C9 Louise Daugherty Source London North GLH was added to C9.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 C8B Louise Daugherty Source London North GLH was added to C8B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 C8A Louise Daugherty Source London North GLH was added to C8A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 C7 Louise Daugherty Source London North GLH was added to C7.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 C6 Louise Daugherty Source London North GLH was added to C6.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 C5 Louise Daugherty Source London North GLH was added to C5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 C4B Louise Daugherty Source London North GLH was added to C4B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 C4A Louise Daugherty Source London North GLH was added to C4A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 C3 Louise Daugherty Source London North GLH was added to C3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 C2 Louise Daugherty Source London North GLH was added to C2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 C1S Louise Daugherty Source London North GLH was added to C1S.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 C1R Louise Daugherty Source London North GLH was added to C1R.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 C1QC Louise Daugherty Source London North GLH was added to C1QC.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 C1QB Louise Daugherty Source London North GLH was added to C1QB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 C1QA Louise Daugherty Source London North GLH was added to C1QA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 BTK Louise Daugherty Source London North GLH was added to BTK.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 BLNK Louise Daugherty Source London North GLH was added to BLNK.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 BLM Louise Daugherty Source London North GLH was added to BLM.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 BACH2 Louise Daugherty Source London North GLH was added to BACH2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 B2M Louise Daugherty Source London North GLH was added to B2M.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 ATP6AP1 Louise Daugherty Source London North GLH was added to ATP6AP1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 ATM Louise Daugherty Source London North GLH was added to ATM.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 ARPC1B Louise Daugherty Source London North GLH was added to ARPC1B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 AP3B1 Louise Daugherty Source London North GLH was added to AP3B1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 AK2 Louise Daugherty Source London North GLH was added to AK2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 AIRE Louise Daugherty Source London North GLH was added to AIRE.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 AICDA Louise Daugherty Source London North GLH was added to AICDA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 ADAR Louise Daugherty Source London North GLH was added to ADAR.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 ADA2 Louise Daugherty Source London North GLH was added to ADA2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 ADA Louise Daugherty Source London North GLH was added to ADA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 ACP5 Louise Daugherty Source London North GLH was added to ACP5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 ACD Louise Daugherty Source London North GLH was added to ACD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.54 TMEM173 Louise Daugherty Tag new-gene-name tag was added to gene: TMEM173.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.43 PSMB9 Louise Daugherty Tag digenic tag was added to gene: PSMB9.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.43 PSMB4 Louise Daugherty Tag digenic tag was added to gene: PSMB4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.39 RANBP2 Louise Daugherty Mode of inheritance for gene: RANBP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary immunodeficiency or monogenic inflammatory bowel disease v1.39 RANBP2 Louise Daugherty Mode of inheritance for gene: RANBP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary immunodeficiency or monogenic inflammatory bowel disease v1.38 SAMD9L Louise Daugherty Mode of inheritance for gene: SAMD9L was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary immunodeficiency or monogenic inflammatory bowel disease v1.37 PTEN Louise Daugherty Mode of inheritance for gene: PTEN was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary immunodeficiency or monogenic inflammatory bowel disease v1.36 CFHR5 Louise Daugherty Mode of inheritance for gene: CFHR5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v1.35 WDR1 Louise Daugherty Mode of inheritance for gene: WDR1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v1.34 USP18 Louise Daugherty Mode of inheritance for gene: USP18 was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v1.33 TNFRSF11A Louise Daugherty Mode of inheritance for gene: TNFRSF11A was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v1.29 ACD Louise Daugherty Tag watchlist was removed from gene: ACD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.26 SPPL2A Louise Daugherty gene: SPPL2A was added
gene: SPPL2A was added to Primary immunodeficiency disorders. Sources: Literature,Expert Review
Mode of inheritance for gene: SPPL2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPPL2A were set to 30264912; 30127434
Phenotypes for gene: SPPL2A were set to Defects with susceptibility to mycobacterial infection (MSMD); Susceptibility to mycobacteria; Defects in Intrinsic and Innate Immunity
Review for gene: SPPL2A was set to GREEN
Added comment: New gene suggested by external review (pers comm.) Vanessa Sancho Shimizu (Imperial College London) PMID:30264912. A new genetic etiology of MSMD has recently been described in three patients from two kindreds originating from Morocco and Turkey presenting Bacille Calmette‐Guerin (BCG) disease a few months after vaccination.
Rated Green due to 2 reported kindreds, functional evidence and a supporting mouse model PMID: 30264912;30127434
Sources: Literature, Expert Review
Primary immunodeficiency or monogenic inflammatory bowel disease v1.23 IFNGR2 Louise Daugherty Added comment: Comment on mode of inheritance: From external review the MOI was changed from biallelic to both biallelic and monoallelic to cover the AR and AD options in the table in PMID:30264912
Primary immunodeficiency or monogenic inflammatory bowel disease v1.23 IFNGR2 Louise Daugherty Mode of inheritance for gene: IFNGR2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v1.21 RAC2 Louise Daugherty Tag watchlist tag was added to gene: RAC2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.20 NFAT5 Sarah Leigh Added comment: Comment on list classification: This rating of this gene has been returned to red. The amber rating was made in error as only one immunodeficiency associated variant has been reported in this gene.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.19 RAC2 Louise Daugherty commented on gene: RAC2: Zornitza Stark (VCGS) , pers. comm. notes 2 families/functional evidence and rates the gene Green. However, there is only a single variant reported and confirmed in the literature NM_002872.4(RAC2):c.169G>A (p.Asp57Asn) that result in Neutrophil immunodeficiency syndrome. There is a second variant reported in clinvar by a Invitae, but although the phenotype is attributed to Neutrophil immunodeficiency syndrome, the affected status of the patient is described as 'unknown', so it was decided to keep this gene Amber until more robust evidence is published to support gene-disease relationship
Primary immunodeficiency or monogenic inflammatory bowel disease v1.19 CD247 Louise Daugherty commented on gene: CD247: Internal clinical team agree there is difficulty of distinguishing whether these are separate cases. As this gene has been reviewed recently with an immunology expert it was decided to keep this gene Amber until further less ambiguous evidence is published
Primary immunodeficiency or monogenic inflammatory bowel disease v1.18 CARD14 Louise Daugherty commented on gene: CARD14: Additional external review added so this gene was reviewed again. Pathogenic variants in CARD14 results in a monogenic autoinflammatory disease, however the the clinical manifestation is dermatological rather than immunological presentation. This gene will remain as Amber on this panel, as it is rated Green on the generalised pustular psoriasis panel
Primary immunodeficiency or monogenic inflammatory bowel disease v1.17 FCGR3A Louise Daugherty commented on gene: FCGR3A: Additional external review added so this gene was reviewed again. Agree to keep this gene Amber until further evidence, especially noted high population frequency, including homozygotes in ExAC.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.10 RASGRP1 Louise Daugherty Mode of inheritance for gene: RASGRP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v1.9 TNFRSF13B Louise Daugherty edited their review of gene: TNFRSF13B: Added comment: Additional external review this gene was reviewed again. Decided to keep Red on this panel, as we currently do not report contributory variants of a disorder, only causative.; Changed rating: RED
Primary immunodeficiency or monogenic inflammatory bowel disease v1.9 CD247 Louise Daugherty commented on gene: CD247: Additional external review this gene was reviewed again. There are two pathogenic germline variants in Clinvar, the first NM_198053.2(CD247):c.301C>T (p.Gln101Ter) pathogenic variant is the same variant reported in PMID:16672702. However, it is not clear if this is strong enough evidence for three unrelated cases, as there is not a clear indication based on the information supplied to ClinVar wether these are two different cases, or are the same.
To be referred to clinical team again, in view of green review (pers. comm with Zornitza Stark, VCGS) in addition to comment below.
1) NM_198053.2(CD247):c.301C>T (p.Gln101Ter) reported from GeneDx clinical lab, no disorder associated but is the same pathogenic variant as reported in PMID:16672702
2) NM_198053.2(CD247):c.51dup (p.Ile18Aspfs) which is associated to Immunodeficiency due to defect in cd3-zeta reported from Invitae clinical lab
Primary immunodeficiency or monogenic inflammatory bowel disease v1.9 NFAT5 Sarah Leigh Tag watchlist tag was added to gene: NFAT5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.8 ISCA-37433-Loss Louise Daugherty 22q11.2 recurrent (DGS/VCFS) region (proximal region, LCR22-A to -B) Loss was changed to 22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss
Added phenotypes 188400; immune deficiency; renal anomalies; 22q11.2 deletion syndrome; 192430; facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay; polyhydramnios; Velocardiofacial syndrome; Learning difficulties; diaphragmatic hernia; DiGeorge syndrome; congenital heart disease; cleft palate, polydactyly for Region: ISCA-37433-Loss
Publications for Region: ISCA-37433-Loss were changed from 15545748; 15889418; 20301696 to 15889418; 20301696; 15545748
Primary immunodeficiency or monogenic inflammatory bowel disease v1.8 ISCA-37446-Loss Louise Daugherty 22q11.2 recurrent (DGS/VCFS) region (proximal region, LCR22-A to -D) Loss was changed to 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss
Added phenotypes 188400; neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells; micrognathia; clefting; Hearing deficits; Velocardiofacial syndrome; cardiac malformations; DiGeorge syndrome for Region: ISCA-37446-Loss
Primary immunodeficiency or monogenic inflammatory bowel disease v1.7 ISCA-37433-Loss Louise Daugherty GRCh38 position for ISCA-37433-Loss was changed from 18178958-20324381 to 18924718-20299686.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.7 ISCA-37446-Loss Louise Daugherty GRCh38 position for ISCA-37446-Loss was changed from 18178958-21207225 to 18924718-21111384.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.6 ISCA-37433-Loss Louise Daugherty Region: ISCA-37433-Loss was added
Region: ISCA-37433-Loss was added to Primary immunodeficiency disorders. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37433-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37433-Loss were set to 15545748; 15889418; 20301696
Phenotypes for Region: ISCA-37433-Loss were set to facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay; diaphragmatic hernia; Learning difficulties; 192430; immune deficiency; congenital heart disease; 22q11.2 deletion syndrome; Velocardiofacial syndrome; DiGeorge syndrome; cleft palate, polydactyly; polyhydramnios; 188400; renal anomalies
Primary immunodeficiency or monogenic inflammatory bowel disease v1.6 ISCA-37446-Loss Louise Daugherty Region: ISCA-37446-Loss was added
Region: ISCA-37446-Loss was added to Primary immunodeficiency disorders. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37446-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37446-Loss were set to cardiac malformations; clefting; neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells; Velocardiofacial syndrome; DiGeorge syndrome; micrognathia; Hearing deficits; 188400
Primary immunodeficiency or monogenic inflammatory bowel disease WAS Louise Daugherty commented on gene: WAS
Primary immunodeficiency or monogenic inflammatory bowel disease WAS Louise Daugherty marked gene: WAS as ready
Primary immunodeficiency or monogenic inflammatory bowel disease WAS Ellen McDonagh edited their review of WAS
Primary immunodeficiency or monogenic inflammatory bowel disease WAS Louise Daugherty edited their review of WAS
Primary immunodeficiency or monogenic inflammatory bowel disease WAS Louise Daugherty commented on WAS
Primary immunodeficiency or monogenic inflammatory bowel disease WAS Louise Daugherty commented on WAS
Primary immunodeficiency or monogenic inflammatory bowel disease WAS Louise Daugherty reviewed WAS
Primary immunodeficiency or monogenic inflammatory bowel disease WAS Louise Daugherty Added gene to panel