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Primary immunodeficiency or monogenic inflammatory bowel disease v2.104 POLD1 Ivone Leong Classified gene: POLD1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.104 POLD1 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber based on expert review and evidence.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.104 POLD1 Ivone Leong Gene: pold1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.103 HYOU1 Ivone Leong Phenotypes for gene: HYOU1 were changed from Hypoglycemia, inflammatory complications; Congenital defects of phagocyte number or function to Hypoglycemia, inflammatory complications; Congenital defects of phagocyte number or function; Immunodeficiency 59 and hypoglycemia, 233600
Primary immunodeficiency or monogenic inflammatory bowel disease v2.102 HYOU1 Ivone Leong Publications for gene: HYOU1 were set to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.101 MKL1 Ivone Leong Classified gene: MKL1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.101 MKL1 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber based on expert review and additional of second case.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.101 MKL1 Ivone Leong Gene: mkl1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.100 MKL1 Ivone Leong Publications for gene: MKL1 were set to 32048120; 26224645; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.99 POLD2 Ivone Leong Phenotypes for gene: POLD2 were changed from Polymerase d 2 deficiency; Recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability; Immunodeficiencies affecting cellular and humoral immunity to Polymerase d 2 deficiency; Recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability; Immunodeficiencies affecting cellular and humoral immunity; Low CD4 T cells; Low B cells, normal maturation
Primary immunodeficiency or monogenic inflammatory bowel disease v2.98 POLR3A Ivone Leong Classified gene: POLR3A as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.98 POLR3A Ivone Leong Added comment: Comment on list classification: Amber rating given based on expert review.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.98 POLR3A Ivone Leong Gene: polr3a has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.97 POLR3C Ivone Leong Classified gene: POLR3C as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.97 POLR3C Ivone Leong Added comment: Comment on list classification: Rating given based on expert review.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.97 POLR3C Ivone Leong Gene: polr3c has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.96 RNF31 Ivone Leong Classified gene: RNF31 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.96 RNF31 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber based on expert review and evidence of a second case.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.96 RNF31 Ivone Leong Gene: rnf31 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.95 RNF31 Ivone Leong Publications for gene: RNF31 were set to 32048120; 26008899; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.94 SEC61A1 Ivone Leong Publications for gene: SEC61A1 were set to 28782633; 32086639; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.93 SH3BP2 Ivone Leong Publications for gene: SH3BP2 were set to 29669173; 22640988; 32048120; 28914985; 11381256; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.92 SH3KBP1 Ivone Leong Publications for gene: SH3KBP1 were set to 32086639; 32048120; 29636373
Primary immunodeficiency or monogenic inflammatory bowel disease v2.91 SLC39A7 Ivone Leong Classified gene: SLC39A7 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.91 SLC39A7 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Green based on expert reviews and evidence.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.91 SLC39A7 Ivone Leong Gene: slc39a7 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.90 PARP1 Sarah Leigh gene: PARP1 was added
gene: PARP1 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: PARP1 was set to Unknown
Publications for gene: PARP1 were set to 31915279
Review for gene: PARP1 was set to RED
Added comment: PARP1 Enhances Influenza A Virus Propagation by Facilitating Degradation of Host Type I Interferon Receptor. Therefore, activiation of PARP1 could promote Influenza infection, by interfering with the IFNAR1.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.89 RECQL4 Sarah Leigh Classified gene: RECQL4 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.89 RECQL4 Sarah Leigh Gene: recql4 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.88 RECQL4 Sarah Leigh Publications for gene: RECQL4 were set to 16630167
Primary immunodeficiency or monogenic inflammatory bowel disease v2.87 RECQL4 Sarah Leigh Classified gene: RECQL4 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.87 RECQL4 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported in 3 unrelated cases in which immunodeficiecy was a feature (PMID 16630167; 21143835; 26064716). In addition RECQL4 variants have been implicated in Acrodermatitis Enteropathica caused by SLC39A4 (p.Gly512Trp)(PMID 30174688)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.87 RECQL4 Sarah Leigh Gene: recql4 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.86 IL18BP Zornitza Stark gene: IL18BP was added
gene: IL18BP was added to Primary immunodeficiency. Sources: Expert list
Mode of inheritance for gene: IL18BP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL18BP were set to 31213488
Phenotypes for gene: IL18BP were set to {?Hepatitis, fulminant viral, susceptibility to} 618549
Review for gene: IL18BP was set to RED
Added comment: Single individual reported with homozygous 40bp deletion in this gene and fulminant Hep A hepatitis.
Sources: Expert list
Primary immunodeficiency or monogenic inflammatory bowel disease v2.86 IRF4 Zornitza Stark gene: IRF4 was added
gene: IRF4 was added to Primary immunodeficiency. Sources: Expert list
Mode of inheritance for gene: IRF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IRF4 were set to 29537367
Phenotypes for gene: IRF4 were set to Whipple's disease; [Skin/hair/eye pigmentation, variation in, 8] 611724
Review for gene: IRF4 was set to RED
Added comment: Single family reported with Whipple's disease and a rare missense in IRF4. Younger healthy carrier members of the family had the same variant as older affected individuals, leading the authors to speculate about age-dependent penetrance. GWAS indicates separate link with skin/hair/eye pigmentation.
Sources: Expert list
Primary immunodeficiency or monogenic inflammatory bowel disease v2.86 POLR3F Zornitza Stark gene: POLR3F was added
gene: POLR3F was added to Primary immunodeficiency. Sources: Expert list
Mode of inheritance for gene: POLR3F was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR3F were set to 30211253
Phenotypes for gene: POLR3F were set to Severe VZV infection
Review for gene: POLR3F was set to RED
Added comment: Missense variant identified in a pair of monozygotic twins. Variant was paternally inherited.
Sources: Expert list
Primary immunodeficiency or monogenic inflammatory bowel disease v2.86 IL23R Zornitza Stark gene: IL23R was added
gene: IL23R was added to Primary immunodeficiency. Sources: Expert list
Mode of inheritance for gene: IL23R was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL23R were set to 30578351
Phenotypes for gene: IL23R were set to Susceptibility to mycobacteria and Salmonella
Review for gene: IL23R was set to RED
Added comment: Single family reported.
Sources: Expert list
Primary immunodeficiency or monogenic inflammatory bowel disease v2.86 IL12RB2 Zornitza Stark gene: IL12RB2 was added
gene: IL12RB2 was added to Primary immunodeficiency. Sources: Expert list
Mode of inheritance for gene: IL12RB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL12RB2 were set to 30578351
Phenotypes for gene: IL12RB2 were set to Susceptibility to mycobacteria and Salmonella
Review for gene: IL12RB2 was set to RED
Added comment: Single individual reported, some functional data.
Sources: Expert list
Primary immunodeficiency or monogenic inflammatory bowel disease v2.86 SMARCD2 Ivone Leong Phenotypes for gene: SMARCD2 were changed from Neutropenia, developmental aberrations, skeletal abnormalities, hematopoietic stem cells, myelodysplasia; Congenital defects of phagocyte number or function to Neutropenia, developmental aberrations, skeletal abnormalities, hematopoietic stem cells, myelodysplasia; Congenital defects of phagocyte number or function; Specific granule deficiency 2, 617475
Primary immunodeficiency or monogenic inflammatory bowel disease v2.85 SMARCD2 Ivone Leong Classified gene: SMARCD2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.85 SMARCD2 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Green based on expert review.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.85 SMARCD2 Ivone Leong Gene: smarcd2 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.84 SMARCD2 Ivone Leong Publications for gene: SMARCD2 were set to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.83 SRP54 Ivone Leong Classified gene: SRP54 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.83 SRP54 Ivone Leong Added comment: Comment on list classification: Promoted Red to Green based on expert review and evidence.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.83 SRP54 Ivone Leong Gene: srp54 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.82 SRP54 Ivone Leong Phenotypes for gene: SRP54 were changed from Congenital defects of phagocyte number or function; Schwachman Diamond features to Congenital defects of phagocyte number or function; Schwachman Diamond features; Neutropenia, severe congenital, 8, autosomal dominant, 618752
Primary immunodeficiency or monogenic inflammatory bowel disease v2.81 TFRC Ivone Leong Classified gene: TFRC as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.81 TFRC Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber based on expert review and evidence.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.81 TFRC Ivone Leong Gene: tfrc has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.80 TFRC Ivone Leong Phenotypes for gene: TFRC were changed from Recurrent infections, neutropenia, thrombocytopenia; Recurrent infections, thrombocytopenia; Immunodeficiencies affecting cellular and humoral immunity to Recurrent infections, neutropenia, thrombocytopenia; Recurrent infections, thrombocytopenia; Immunodeficiencies affecting cellular and humoral immunity; Immunodeficiency 46, 616740; T cells: normal number, poor proliferation; B cells: normal number, low memory B cells; recurrent infections, neutorpaenia; thrombocytopaenia
Primary immunodeficiency or monogenic inflammatory bowel disease v2.79 TFRC Ivone Leong Publications for gene: TFRC were set to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.78 TGFB1 Ivone Leong Classified gene: TGFB1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.78 TGFB1 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber based on expert review and evidence.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.78 TGFB1 Ivone Leong Gene: tgfb1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.77 NFE2L2 Ivone Leong Classified gene: NFE2L2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.77 NFE2L2 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Green based on exper review.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.77 NFE2L2 Ivone Leong Gene: nfe2l2 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.76 NFE2L2 Ivone Leong Phenotypes for gene: NFE2L2 were changed from white matter cerebral lesions, increased level of homocysteine; Recurrent respiratory and skin infections, growth retardation, , developmental delay; Immunodeficiency, developmental delay, and hypohomocysteinemia, 617744; NFE2L2 GOF; increased expression of stress response genes; Combined immunodeficiencies with associated or syndromic features to white matter cerebral lesions, increased level of homocysteine; Recurrent respiratory and skin infections, growth retardation, , developmental delay; Immunodeficiency, developmental delay, and hypohomocysteinemia, 617744; NFE2L2 GOF; increased expression of stress response genes; Combined immunodeficiencies with associated or syndromic features; mmunodeficiency, developmental delay, and hypohomocysteinemia, 617744; Recurrent respiratory and skin infection; Growth retardation; Developmental delay, borderline ID; White matter cerebral lesions
Primary immunodeficiency or monogenic inflammatory bowel disease v2.75 TNFRSF9 Ivone Leong Classified gene: TNFRSF9 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.75 TNFRSF9 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Green based on expert review and evidence.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.75 TNFRSF9 Ivone Leong Gene: tnfrsf9 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.74 TOP2B Ivone Leong Classified gene: TOP2B as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.74 TOP2B Ivone Leong Added comment: Comment on list classification: Promoted from Red to Green based on expert review and evidence.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.74 TOP2B Ivone Leong Gene: top2b has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.73 TRAF3IP2 Ivone Leong Classified gene: TRAF3IP2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.73 TRAF3IP2 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber based on expert review and evidence.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.73 TRAF3IP2 Ivone Leong Gene: traf3ip2 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.72 TRIM22 Ivone Leong Classified gene: TRIM22 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.72 TRIM22 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Green based on expert review and evidence.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.72 TRIM22 Ivone Leong Gene: trim22 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.71 TRIM22 Ivone Leong Phenotypes for gene: TRIM22 were changed from Autoinflammatory Disorders; Granulomatous colitis; Diseases of Immune Dysregulation; TRIM22 to Autoinflammatory Disorders; Granulomatous colitis; Diseases of Immune Dysregulation; TRIM22; Inflammatory bowel disease
Primary immunodeficiency or monogenic inflammatory bowel disease v2.70 USP18 Ivone Leong Classified gene: USP18 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.70 USP18 Ivone Leong Added comment: Comment on list classification: Promoted from Amber to Green based on expert reviews.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.70 USP18 Ivone Leong Gene: usp18 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.69 TRAF3IP2 Ivone Leong Publications for gene: TRAF3IP2 were set to 32048120; 24120361; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.68 USP18 Ivone Leong Publications for gene: USP18 were set to 32048120; 27325888; 31272490; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.67 WDR1 Ivone Leong Classified gene: WDR1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.67 WDR1 Ivone Leong Added comment: Comment on list classification: Promoted from Amber to Green based on expert review.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.67 WDR1 Ivone Leong Gene: wdr1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.66 WDR1 Ivone Leong Publications for gene: WDR1 were set to 32048120; 27557945; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.65 ZNF341 Ivone Leong Classified gene: ZNF341 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.65 ZNF341 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Green based on expert reviews.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.65 ZNF341 Ivone Leong Gene: znf341 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.64 PIK3CD Ivone Leong Added comment: Comment on mode of inheritance: Updated MOI from Monoallelic to Both Monoallelic and biallelic based on expert review and evidence provided by Zornitza Stark (Australian Genomics).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.64 PIK3CD Ivone Leong Mode of inheritance for gene: PIK3CD was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.63 PIK3CD Ivone Leong Publications for gene: PIK3CD were set to 24165795; 24136356; 29226301
Primary immunodeficiency or monogenic inflammatory bowel disease v2.62 TCF3 Ivone Leong Added comment: Comment on mode of inheritance: Updated MOI from Monoallelic to Both Monoallelic and biallelic based on expert review and evidence provided by Zornitza Stark (Australian Genomics).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.62 TCF3 Ivone Leong Mode of inheritance for gene: TCF3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.61 STAT5B Ivone Leong Publications for gene: STAT5B were set to 13679528; 16920911; 15827093; 16787985; 17030597; 17389811; 20538865; 26703237
Primary immunodeficiency or monogenic inflammatory bowel disease v2.60 STAT5B Ivone Leong Added comment: Comment on mode of inheritance: Changed MOI from Biallelic to Both Monoallelic and biallelic based on expert review and evidence provided by Zornitza Stark (Australian Genomics). It should be noted that the AD has a dominant-negative effect.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.60 STAT5B Ivone Leong Mode of inheritance for gene: STAT5B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.59 TCF3 Ivone Leong Publications for gene: TCF3 were set to 24216514; 28532655; 29114388
Primary immunodeficiency or monogenic inflammatory bowel disease v2.58 BCL10 Ivone Leong Classified gene: BCL10 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.58 BCL10 Ivone Leong Added comment: Comment on list classification: Based on recent expert reviews and evidence, it has been decided that there is now enough evidence to support a gene-disease association. Therefore, this gene has been promoted from Amber to Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.58 BCL10 Ivone Leong Gene: bcl10 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.57 RC3H1 Sarah Leigh Classified gene: RC3H1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.57 RC3H1 Sarah Leigh Added comment: Comment on list classification: Not associated with phenotype in OMIM (lasted edited 01/27/2017) or in Gen2Phen. PMID 31636267 reports a biallelic nonsense variant (p.R688*), in a case with immune dysregulation syndrome
characterized by severe hyperinflammation in a consanguineous family. The association of this variant with the phenotype is supported by functional studies and mouse model (PMID 15917799).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.57 RC3H1 Sarah Leigh Gene: rc3h1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.56 RC3H1 Sarah Leigh Publications for gene: RC3H1 were set to PMID: 31636267
Primary immunodeficiency or monogenic inflammatory bowel disease v2.55 PSMB10 Sarah Leigh Classified gene: PSMB10 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.55 PSMB10 Sarah Leigh Added comment: Comment on list classification: Not associated with phenotype in OMIM (last edited on 06/25/2007) or in Gen2Phen. PMID 31783057 reports a case of Proteasome-associated autoinflammatory syndrome in an infant with a biallelic variant (c.41T>C, p.Phe14Ser), together with supporting functional studies.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.55 PSMB10 Sarah Leigh Gene: psmb10 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.54 PSMB10 Sarah Leigh Phenotypes for gene: PSMB10 were changed from Proteasome-associated autoinflammatory syndrome to Proteasome-associated autoinflammatory syndrome (PRAAS)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.53 NFKBID Sarah Leigh Classified gene: NFKBID as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.53 NFKBID Sarah Leigh Added comment: Comment on list classification: Not associated with phenotype in OMIM or in Gen2Phen. The only variants are structural rearrangements that include NFKBID amongst other genes. PMID 26973645 reports "heterozygous mutation in the nfkbid gene encoding the atypical IκB protein IκBNS led to reduced steady state IgM and IgG3 antibody levels and impaired response to vaccination with TI-2 antigens in mice". Thus, variants in human NFKBID may also result in reduced levels of IgM and IgG3 and compromized vaccination responses.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.53 NFKBID Sarah Leigh Gene: nfkbid has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.52 NFKBID Sarah Leigh Publications for gene: NFKBID were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 STAT5B Zornitza Stark reviewed gene: STAT5B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29844444; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 TCF3 Zornitza Stark reviewed gene: TCF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30063982; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 PIK3CD Zornitza Stark reviewed gene: PIK3CD: Rating: GREEN; Mode of pathogenicity: None; Publications: 31073077; Phenotypes: Severe bacterial infections, autoimmunity; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 REL Zornitza Stark reviewed gene: REL: Rating: RED; Mode of pathogenicity: None; Publications: 31103457; Phenotypes: Combined immunodeficiency, T cells: normal, decreased memory CD4, poor proliferation, B cells: low, mostly naive, few switched memory B cells, impaired proliferation, Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms, Defective innate immunity; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 ZNF341 Zornitza Stark reviewed gene: ZNF341: Rating: GREEN; Mode of pathogenicity: None; Publications: 29907691, 29907690; Phenotypes: Hyper-IgE recurrent infection syndrome 3, autosomal recessive, MIM# 618282, Mild facial dysmorphism, Early onset eczema, Recurrent bacterial skin infections, abscesses, Recurrent respiratory infections, lung abscesses and pneumothoraces, Hyperextensible joints, bone fractures, retention of primary teeth; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 WDR1 Zornitza Stark edited their review of gene: WDR1: Changed phenotypes: Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia, Neutropaenia, Poor wound healing, Severe stomatitis, Neutrophil nuclei herniate
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 WDR1 Zornitza Stark reviewed gene: WDR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27994071, 27557945, 29751004; Phenotypes: Autoinflammatory periodic fever, neutrophil dysfunction, immunodeficiency, and thrombocytopenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 USP18 Zornitza Stark reviewed gene: USP18: Rating: GREEN; Mode of pathogenicity: None; Publications: 31940699, 27325888; Phenotypes: Pseudo-TORCH syndrome 2, MIM# 617397; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 TRIM22 Zornitza Stark reviewed gene: TRIM22: Rating: GREEN; Mode of pathogenicity: None; Publications: 26836588; Phenotypes: Inflammatory bowel disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 TRAF3IP2 Zornitza Stark reviewed gene: TRAF3IP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24120361, 31292894, 20660351; Phenotypes: Candidiasis, familial, 8, MIM# 615527; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 TOP2B Zornitza Stark reviewed gene: TOP2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 31409799; Phenotypes: Antibody deficiency, Recurrent infections, Facial dysmorphism, Limb anomalies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 TNFRSF9 Zornitza Stark reviewed gene: TNFRSF9: Rating: GREEN; Mode of pathogenicity: None; Publications: 30872117, 31501153; Phenotypes: EBV lymphoproliferation, B-cell lymphoma, Chronic active EBV infection; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 TNFRSF13B Zornitza Stark changed review comment from: Agree this gene is difficult to categorise. We have decided to include the gene in our panels, but report only the specific variants for which there is published evidence, and to report them as contributory rather than solely causative.; to: 2018: Agree this gene is difficult to categorise. We have decided to include the gene in our panels, but report only the specific variants for which there is published evidence, and to report them as contributory rather than solely causative.

2020: Variants in this gene do not readily fit the monogenic rare disease paradigm, but nevertheless there is evidence they make a contribution to CVID pathogenesis. We have 'whitelisted' specific variants and are reporting them separately as susceptibility alleles. It is unlikely that further evidence will alter this interpretation, this is more of a question about reporting policy.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 NFE2L2 Zornitza Stark reviewed gene: NFE2L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29018201; Phenotypes: Immunodeficiency, developmental delay, and hypohomocysteinemia, MIM# 617744, Recurrent respiratory and skin infection, Growth retardation, Developmental delay, borderline ID, White matter cerebral lesions; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 TGFB1 Zornitza Stark reviewed gene: TGFB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29483653; Phenotypes: Inflammatory bowel disease, immunodeficiency, and encephalopathy MIM# 618213; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 TFRC Zornitza Stark reviewed gene: TFRC: Rating: AMBER; Mode of pathogenicity: None; Publications: 26642240; Phenotypes: Immunodeficiency 46, MIM# 616740, T cells: normal number, poor proliferation, B cells: normal number, low memory B cells, recurrent infections, neutorpaenia, thrombocytopaenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 SRP54 Zornitza Stark reviewed gene: SRP54: Rating: GREEN; Mode of pathogenicity: None; Publications: 29914977, 28972538; Phenotypes: Neutropenia, severe congenital, 8, autosomal dominant, MIM# 618752; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 SPPL2A Zornitza Stark reviewed gene: SPPL2A: Rating: AMBER; Mode of pathogenicity: None; Publications: 30127434; Phenotypes: Susceptibility to mycobacteria and Salmonella; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 SMARCD2 Zornitza Stark reviewed gene: SMARCD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28369036, 28369034; Phenotypes: Specific granule deficiency 2, MIM# 617475, Neutropaenia, Neurodevelopmental abnormalities in some, Myelodysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 SLC7A7 Zornitza Stark reviewed gene: SLC7A7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lysinuric protein intolerance, MIM# 222700, Hyper-inflammatory response of macrophages, Normal NK cell function, Lysinuric protein intolerance, Bleeding tendency, Alverolar proteinosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 SLC39A7 Zornitza Stark reviewed gene: SLC39A7: Rating: GREEN; Mode of pathogenicity: None; Publications: 30718914; Phenotypes: Antibody deficiency, early onset infections, blistering dermatosis, failure to thrive, thrombocytopaenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 SH3KBP1 Zornitza Stark reviewed gene: SH3KBP1: Rating: RED; Mode of pathogenicity: None; Publications: 29636373, 21708930; Phenotypes: Immunodeficiency 61, MIM# 300310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 SH3BP2 Zornitza Stark reviewed gene: SH3BP2: Rating: RED; Mode of pathogenicity: None; Publications: 26152156, 25705883, 25470448, 25220465; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 SEC61A1 Zornitza Stark reviewed gene: SEC61A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27392076, 28782633; Phenotypes: Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056, Hypogammaglobulinaemia, Severe recurrent respiratory tract infections; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 RNF31 Zornitza Stark reviewed gene: RNF31: Rating: AMBER; Mode of pathogenicity: None; Publications: 26008899, 30936877; Phenotypes: Immune deficiency, Autoinflammation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 RELA Zornitza Stark reviewed gene: RELA: Rating: AMBER; Mode of pathogenicity: None; Publications: 28600438, 29305315; Phenotypes: Mucocutaneous ulceration, chronic, MIM# 618287, Impaired NFkB activation, reduced production of inflammatory cytokines, autoimmune cytopaenias; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 RAC2 Zornitza Stark edited their review of gene: RAC2: Changed phenotypes: SCID, recurrent bacterial and viral infections, lymphoproliferation, neutropaenia, reticular dysgenesis, deafness, selective IgA deficiency, Reduced Ab responses following vaccination, Neutrophil immunodeficiency syndrome, MIM# 608203, Common variable immunodeficiency
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 RAC2 Zornitza Stark reviewed gene: RAC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32198141, 31919089, 31382036, 31071452, 30723080, 30654050, 25512081; Phenotypes: SCID, recurrent bacterial and viral infections, lymphoproliferation, neutropaenia, reticular dysgenesis, deafness, selective IgA deficiency, Reduced Ab responses following vaccination; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 PSMG2 Zornitza Stark reviewed gene: PSMG2: Rating: RED; Mode of pathogenicity: None; Publications: 30664889; Phenotypes: CANDLE syndrome, Chronic atypical neutrophilic dermatitis with lipodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 POLR3C Zornitza Stark gene: POLR3C was added
gene: POLR3C was added to Primary immunodeficiency. Sources: Expert list
Mode of inheritance for gene: POLR3C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR3C were set to 28783042
Phenotypes for gene: POLR3C were set to Severe VZV infection
Review for gene: POLR3C was set to AMBER
Added comment: One individual with POLR3C variant and another individual with both POL3RA and POL3RC variants.
Sources: Expert list
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 POLR3A Zornitza Stark gene: POLR3A was added
gene: POLR3A was added to Primary immunodeficiency. Sources: Expert list
Mode of inheritance for gene: POLR3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR3A were set to 28783042; 29728610
Phenotypes for gene: POLR3A were set to Severe VZV infection
Review for gene: POLR3A was set to AMBER
Added comment: Two individuals with mono allelic POLR3A variants and another individual with both POLR3A and a POLR3C variants reported.
Sources: Expert list
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 POLE Zornitza Stark reviewed gene: POLE: Rating: GREEN; Mode of pathogenicity: None; Publications: 30503519, 23230001, 25948378; Phenotypes: FILS syndrome, MIM# 615139, IMAGE-I syndrome, MIM# 618336; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 POLD2 Zornitza Stark reviewed gene: POLD2: Rating: RED; Mode of pathogenicity: None; Publications: 31449058; Phenotypes: Low CD4 T cells, Low B cells, normal maturation, recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 POLD1 Zornitza Stark reviewed gene: POLD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31629014, 31449058; Phenotypes: Low CD4 T cells, Low B cells, normal maturation, recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 PAX1 Zornitza Stark gene: PAX1 was added
gene: PAX1 was added to Primary immunodeficiency. Sources: Expert list
Mode of inheritance for gene: PAX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAX1 were set to 32111619
Phenotypes for gene: PAX1 were set to Syndromic SCID; dysmorphism; ear abnormalities; otofaciocervical syndrome
Review for gene: PAX1 was set to GREEN
gene: PAX1 was marked as current diagnostic
Added comment: 6 individuals from three unrelated families.
Sources: Expert list
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 OAS1 Zornitza Stark reviewed gene: OAS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29455859; Phenotypes: infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 NOP10 Zornitza Stark reviewed gene: NOP10: Rating: RED; Mode of pathogenicity: None; Publications: 17507419; Phenotypes: Dyskeratosis congenita, autosomal recessive 1, MIM#224230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 NLRP1 Zornitza Stark reviewed gene: NLRP1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27965258, 31484767, 27662089; Phenotypes: Autoinflammation with arthritis and dyskeratosis, MIM# 617388, Palmoplantar carcinoma, multiple self-healing 615225, Recurrent respiratory papillomatosis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 MYO5B Zornitza Stark reviewed gene: MYO5B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Microvillus inclusion disease, MIM# 251850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 MKL1 Zornitza Stark reviewed gene: MKL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 32128589, 26224645; Phenotypes: Neutropaenia with combined immune deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 LIG1 Zornitza Stark reviewed gene: LIG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30395541; Phenotypes: Combined immunodeficiency, Lymphopaenia, Hypogammaglobulinaemia, Recurrent bacterial and viral infections, Growth retardation, Sun sensitivity, radiation sensitivity, Macrocytosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 PSMA3 Abdelazeem Elhabyan reviewed gene: PSMA3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 PSMA3 Abdelazeem Elhabyan Deleted their review
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 PSMA3 Abdelazeem Elhabyan reviewed gene: PSMA3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 IRF9 Zornitza Stark reviewed gene: IRF9: Rating: AMBER; Mode of pathogenicity: None; Publications: 30826365, 30143481; Phenotypes: Immunodeficiency 65, susceptibility to viral infections 618648; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 IL6ST Zornitza Stark reviewed gene: IL6ST: Rating: GREEN; Mode of pathogenicity: None; Publications: 32207811, 28747427, 30309848, 12370259, 16041381, 31914175; Phenotypes: Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523, Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response., Hyper-IgE syndrome, autosomal dominant; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 IL6R Zornitza Stark reviewed gene: IL6R: Rating: AMBER; Mode of pathogenicity: None; Publications: 31235509; Phenotypes: Recurrent pyogenic infections, cold abscesses, High circulating IL-6 levels, High IgE; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 IL2RB Zornitza Stark reviewed gene: IL2RB: Rating: GREEN; Mode of pathogenicity: None; Publications: 31040184, 31040185; Phenotypes: Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM# 618495, Lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune haemolytic anaemia, dermatitis, enteropathy, hypergammaglobulinaemia, recurrent viral (EBV, CMV) infections; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 IL17F Zornitza Stark reviewed gene: IL17F: Rating: RED; Mode of pathogenicity: None; Publications: 21350122; Phenotypes: Candidiasis, familial, 6, autosomal dominant, MIM# 613956; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 ICOSLG Zornitza Stark reviewed gene: ICOSLG: Rating: AMBER; Mode of pathogenicity: None; Publications: 31532372, 30498080; Phenotypes: Combined immunodeficiency, recurrent bacterial and viral infections, neutropaenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 HYOU1 Zornitza Stark reviewed gene: HYOU1: Rating: RED; Mode of pathogenicity: None; Publications: 27913302; Phenotypes: Immunodeficiency 59 and hypoglycemia, MIM# 233600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 HAVCR2 Zornitza Stark reviewed gene: HAVCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30374066, 30792187; Phenotypes: T-cell lymphoma, subcutaneous panniculitis-like, MIM# 618398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 FCHO1 Zornitza Stark reviewed gene: FCHO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32098969, 30822429; Phenotypes: Combined immunodeficiency, T cells: low, poor proliferation, B cells: normal number, Recurrent infections (viral, mycobacteria, bacterial, fungal), lymphoproliferation, Failure to thrive, Increased activation-induced T-cell death, Defective clathrin-mediated endocytosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 ERBIN Zornitza Stark reviewed gene: ERBIN: Rating: AMBER; Mode of pathogenicity: None; Publications: 28126831; Phenotypes: Recurrent respiratory infections, Susceptibility to S.aureus, Eczema, Hyperextensible joints, Scoliosis, Arterial dilatation in some; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 EFL1 Zornitza Stark gene: EFL1 was added
gene: EFL1 was added to Primary immunodeficiency. Sources: Expert list
Mode of inheritance for gene: EFL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EFL1 were set to 28331068; 31151987
Phenotypes for gene: EFL1 were set to Shwachman-Diamond syndrome 2, MIM# 617941
Review for gene: EFL1 was set to GREEN
gene: EFL1 was marked as current diagnostic
Added comment: Six unrelated families reported, two had the same homozygous variant, one family single variant plus 'expression defect' identified. Neutropaenia is part of the phenotype, and other SDS genes are part of the PID panel.
Sources: Expert list
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 DNASE1L3 Zornitza Stark reviewed gene: DNASE1L3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22019780, 30008451; Phenotypes: Systemic lupus erythematosus 16, MIM# 614420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 DEF6 Zornitza Stark reviewed gene: DEF6: Rating: AMBER; Mode of pathogenicity: None; Publications: 31308374; Phenotypes: Systemic autoimmunity; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 DBR1 Zornitza Stark reviewed gene: DBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29474921; Phenotypes: Viral infections of the brainstem; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 CSF2RB Zornitza Stark reviewed gene: CSF2RB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 CIB1 Zornitza Stark gene: CIB1 was added
gene: CIB1 was added to Primary immunodeficiency. Sources: Expert list
Mode of inheritance for gene: CIB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CIB1 were set to 30068544
Phenotypes for gene: CIB1 were set to Epidermodysplasia verruciformis 3 618267; HPV infections and cancer of the skin
Review for gene: CIB1 was set to GREEN
Added comment: Underlying defect of innate immunity, though phenotype is dermatological. 24 individuals from 6 families reported. Part of IUIS classification 2019.
Sources: Expert list
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 C17orf62 Zornitza Stark reviewed gene: C17orf62: Rating: GREEN; Mode of pathogenicity: None; Publications: 30361506, 30312704, 28351984; Phenotypes: Chronic granulomatous disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 BLOC1S6 Zornitza Stark edited their review of gene: BLOC1S6: Changed rating: AMBER
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 MRE11 Sarah Leigh Publications for gene: MRE11 were set to 8445618; 10612394; 15574463; 32212377
Primary immunodeficiency or monogenic inflammatory bowel disease v2.50 MRE11 Sarah Leigh changed review comment from: Comment on list classification: Immunodeficiency does not appear to be a feature of Ataxia-telangiectasia-like disorder 1 604391. However, as part of the MRE11-RAD50-NBS1 Complex it is part of the core conductor for the initial and sustained responses to DNA double-strand breaks, stalled replication forks, dysfunctional telomeres, and viral DNA infection. Hence, variants in MRE11, could reduce the response to viral DNA integration in host cells,allowing infections to be propogated. ; to: Comment on list classification: Immunodeficiency does not appear to be a feature of Ataxia-telangiectasia-like disorder 1 604391. However, as part of the MRE11-RAD50-NBS1 Complex it is part of the core conductor for the initial and sustained responses to DNA double-strand breaks, stalled replication forks, dysfunctional telomeres, and viral DNA infection (pmid 29709199). Hence, variants in MRE11, could reduce the response to viral DNA integration in host cells,allowing infections to be propogated.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.50 MRE11 Sarah Leigh changed review comment from: Comment on list classification: Immunodeficiency does not appear to be a feature of Ataxia-telangiectasia-like disorder 1 604391; to: Comment on list classification: Immunodeficiency does not appear to be a feature of Ataxia-telangiectasia-like disorder 1 604391. However, as part of the MRE11-RAD50-NBS1 Complex it is part of the core conductor for the initial and sustained responses to DNA double-strand breaks, stalled replication forks, dysfunctional telomeres, and viral DNA infection. Hence, variants in MRE11, could reduce the response to viral DNA integration in host cells,allowing infections to be propogated.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.50 MRE11 Sarah Leigh Classified gene: MRE11 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.50 MRE11 Sarah Leigh Added comment: Comment on list classification: Immunodeficiency does not appear to be a feature of Ataxia-telangiectasia-like disorder 1 604391
Primary immunodeficiency or monogenic inflammatory bowel disease v2.50 MRE11 Sarah Leigh Gene: mre11 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.49 MRE11 Sarah Leigh Publications for gene: MRE11 were set to 8445618; 10612394; 15574463
Primary immunodeficiency or monogenic inflammatory bowel disease v2.48 MRE11 Sarah Leigh Publications for gene: MRE11 were set to 8445618; 10612394; 15574463
Primary immunodeficiency or monogenic inflammatory bowel disease v2.47 SNORA31 Catherine Snow Classified gene: SNORA31 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.47 SNORA31 Catherine Snow Added comment: Comment on list classification: Rating as Green following external review
Primary immunodeficiency or monogenic inflammatory bowel disease v2.47 SNORA31 Catherine Snow Gene: snora31 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.46 BLOC1S6 Zornitza Stark reviewed gene: BLOC1S6: Rating: RED; Mode of pathogenicity: None; Publications: 32245340; Phenotypes: Hermansky-Pudlak syndrome 9, MIM# 614171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.46 BCL11B Zornitza Stark reviewed gene: BCL11B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29985992, 27959755; Phenotypes: Immunodeficiency 49, MIM# 617237, Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, MIM# 618092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v2.46 BCL10 Zornitza Stark reviewed gene: BCL10: Rating: GREEN; Mode of pathogenicity: None; Publications: 25365219, 32008135, 11163238, 12910267; Phenotypes: Immunodeficiency 37, MIM# 616098; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.46 ARHGEF1 Zornitza Stark reviewed gene: ARHGEF1: Rating: RED; Mode of pathogenicity: None; Publications: 30521495; Phenotypes: Immunodeficiency 62, MIM#618459; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.46 ALPI Zornitza Stark reviewed gene: ALPI: Rating: AMBER; Mode of pathogenicity: None; Publications: 29567797; Phenotypes: Inflammatory bowel disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.46 ADAM17 Zornitza Stark reviewed gene: ADAM17: Rating: GREEN; Mode of pathogenicity: None; Publications: 22010916, 29560122, 26683521, 25804906; Phenotypes: Inflammatory skin and bowel disease, neonatal, 1, MIM# 614328, Recurrent infections; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.46 MRE11 Sarah Leigh Publications for gene: MRE11 were set to 8445618; 10612394
Primary immunodeficiency or monogenic inflammatory bowel disease v2.45 CD247 Sophie Hambleton edited their review of gene: CD247: Added comment: There are at least 2 separate published reports of SCID caused by biallelic mutations in this gene, in keeping with understanding of its role in T cell biology.; Changed rating: GREEN; Changed publications: 16672702, 17170122; Changed phenotypes: T-B+ SCID
Primary immunodeficiency or monogenic inflammatory bowel disease v2.45 BCL10 Sophie Hambleton edited their review of gene: BCL10: Added comment: Additional case report describes recurrent infections with same cellular and immunological phenotypes in a child with homozygous null mutation, hence upgrade from amber to green gene status; Changed rating: GREEN; Changed publications: 25365219, 32008135
Primary immunodeficiency or monogenic inflammatory bowel disease v2.45 IL6 Ellen McDonagh gene: IL6 was added
gene: IL6 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: IL6 was set to Unknown
Publications for gene: IL6 were set to medRxiv 2020.04.01.20047381; doi: https://doi.org/10.1101/2020.04.01.20047381
Phenotypes for gene: IL6 were set to Potential marker for respiratory failure when infected with COVID-19
Review for gene: IL6 was set to RED
Added comment: Not yet peer-reviewed study available in medRxiv: https://www.medrxiv.org/content/10.1101/2020.04.01.20047381v1
reports an association between elevated interleukin-6 (IL-6) in COVID-19 infected patients with the need for mechanical ventilation (p=1.2.10-5). The maximal IL-6 level (cutoff 80 pg/ml) for each patient during disease predicted respiratory failure with high accuracy (p=1.7.10-8, AUC=0.98). The risk of respiratory failure for patients with IL-6 levels of ≥ 80 pg/ml was 22 times higher compared to patients with lower IL-6 levels.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.44 IL6R Ellen McDonagh reviewed gene: IL6R: Rating: ; Mode of pathogenicity: None; Publications: medRxiv 2020.04.01.20047381, doi: https://doi.org/10.1101/2020.04.01.20047381; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.44 MPO Sarah Leigh Classified gene: MPO as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.44 MPO Sarah Leigh Added comment: Comment on list classification: Comment on list classification: PMID 3208230 outlines the role of neutrophil extracellular traps (NETs) in the control of some pathogens including viruses, by virus capture and neutralization. In vivo treatment of the mice with DNase resulted in the enhanced susceptibility of IFNAR-/- mice to the CHIKV virus. Furthermore, the levels of MPO-DNA complex in acutely CHIKV-infected patients, were correlated with the levels of NETs and the viral load in the blood, suggesting that NETs are also released in natural human infection cases. Therefore, variants that result in myeloperoxidase deficiency, may well contribute to an increased susceptiblity to viral infection. At least 9 variants have been reported in Myeloperoxidase deficiency 254600 and these could well be contributing to increased viral susceptibily.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.44 MPO Sarah Leigh Gene: mpo has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.43 MPO Sarah Leigh Publications for gene: MPO were set to 15108282; 9354683; 9637725
Primary immunodeficiency or monogenic inflammatory bowel disease v2.42 IFNAR1 Sarah Leigh Classified gene: IFNAR1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.42 IFNAR1 Sarah Leigh Added comment: Comment on list classification: Not associated with phenotype in OMIM or in Gen2Phen. However, the publications listed below give evidence that the three LOF variants in two unrelated cases are associated with an adverse reaction to attenuated virus vaccines, which are rescued by wt IFNAR1 protein in vitro.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.42 IFNAR1 Sarah Leigh Gene: ifnar1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.41 IFNAR1 Sarah Leigh Added comment: Comment on publications: PMID 31270247: reports two cases of healthy children with adverse reactions to live attuated virus vaccines. Each had biallelic loss-of-function IFNAR1 variations and the effects of these was demonstrated by the patient-derived fibroblasts being susceptible to viruses. This effect was recused by the WT IFNAR1.
PMID 26676772: reports the tageted degradation of IFNAR1 protein by
Influenza A virus (IAV), allowing the virus to escape the powerful innate immune system. Thus the loss of function of IFNAR1 would increase the susceptability to viral infection.
PMID 20020050: reports the tageted degradation of IFNAR1 protein by Severe Acute Respiratory Syndrome Coronavirus (SARS-CoV). Confocal microscopic analysis showed increased translocation of IFNAR1 into the lysosomal compartment and flow cytometry showed reduced levels of IFNAR1 in 3a-expressing cells.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.41 IFNAR1 Sarah Leigh Publications for gene: IFNAR1 were set to 31270247; 26676772; 20020050
Primary immunodeficiency or monogenic inflammatory bowel disease v2.40 IFNAR1 Sarah Leigh gene: IFNAR1 was added
gene: IFNAR1 was added to Primary immunodeficiency. Sources: Expert Review,Literature
Mode of inheritance for gene: IFNAR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFNAR1 were set to 31270247; 26676772; 20020050
Phenotypes for gene: IFNAR1 were set to IFNAR1 associated adverse reactions to certain live attenuated viral vaccines
Review for gene: IFNAR1 was set to AMBER
Added comment: Hypothesis from Abdelazeem Elhabyan (Tanta University Hospitals): this gene is involved in the interferon-mediated immune response to viruses of those is SARS Coronavirus (2003) which down-regulates the IFNAR1 receptors through its 3a protein. Additionally, Influenzavirus A suppress immune response by downregulation of this gene. It has been also linked to adverse reactions to measles and yellow fever vaccines in healthy individuals.
Sources: Expert Review, Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.39 IRF9 Catherine Snow Classified gene: IRF9 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.39 IRF9 Catherine Snow Gene: irf9 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.38 IRF9 Catherine Snow gene: IRF9 was added
gene: IRF9 was added to Primary immunodeficiency. Sources: Expert Review
Mode of inheritance for gene: IRF9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IRF9 were set to 30143481; 30826365
Phenotypes for gene: IRF9 were set to Immunodeficiency 65, susceptibility to viral infections, 618648
Review for gene: IRF9 was set to AMBER
Added comment: Identified by external reviewer as not present in the Primary immunodeficiency (version 2.37) or the research Viral susceptibility panel (version 0.35).

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

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

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

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

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

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

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

Virulent Poxviruses Inhibit DNA Sensing by Preventing STING Activation
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5923072/
The gene is involved in acute pancreatitis in mice
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6112120/
Primary immunodeficiency or monogenic inflammatory bowel disease v2.37 TMEM173 Ellen McDonagh Publications for gene: TMEM173 were set to 25029335; 25401470
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 ZNF341 Louise Daugherty edited their review of gene: ZNF341: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 29907691, 29907690
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 TRIM22 Louise Daugherty reviewed gene: TRIM22: Rating: AMBER; Mode of pathogenicity: ; Publications: 26836588; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 TOP2B Louise Daugherty reviewed gene: TOP2B: Rating: AMBER; Mode of pathogenicity: ; Publications: 31409799; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 TNFRSF9 Louise Daugherty reviewed gene: TNFRSF9: Rating: AMBER; Mode of pathogenicity: ; Publications: 31537641, 30872117, 31501153; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 TGFBR2 Louise Daugherty reviewed gene: TGFBR2: Rating: AMBER; Mode of pathogenicity: ; Publications: 29392890; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 TGFBR1 Louise Daugherty reviewed gene: TGFBR1: Rating: AMBER; Mode of pathogenicity: ; Publications: 29392890; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 TGFB1 Louise Daugherty reviewed gene: TGFB1: Rating: AMBER; Mode of pathogenicity: ; Publications: 29483653; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 SRP54 Louise Daugherty edited their review of gene: SRP54: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 28972538, 29914977
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 SLC7A7 Louise Daugherty reviewed gene: SLC7A7: Rating: AMBER; Mode of pathogenicity: ; Publications: 28057010; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 SLC39A7 Louise Daugherty edited their review of gene: SLC39A7: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 30718914
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 SH3KBP1 Louise Daugherty reviewed gene: SH3KBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 29636373; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 SEC61A1 Louise Daugherty reviewed gene: SEC61A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 28782633; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 RELA Louise Daugherty reviewed gene: RELA: Rating: AMBER; Mode of pathogenicity: ; Publications: 28600438, 29305315; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 REL Louise Daugherty reviewed gene: REL: Rating: AMBER; Mode of pathogenicity: ; Publications: 31103457; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 RAC2 Louise Daugherty edited their review of gene: RAC2: Added comment: Added publication referenced by IUIS december 2019 update; Changed publications: 25512081, 30723080, 30654050, 31071452, 31382036
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 PSMG2 Louise Daugherty reviewed gene: PSMG2: Rating: AMBER; Mode of pathogenicity: ; Publications: 30664889; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 POLD2 Louise Daugherty reviewed gene: POLD2: Rating: AMBER; Mode of pathogenicity: ; Publications: 31449058; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 POLD1 Louise Daugherty reviewed gene: POLD1: Rating: AMBER; Mode of pathogenicity: ; Publications: 31449058, 31629014; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 OAS1 Louise Daugherty reviewed gene: OAS1: Rating: AMBER; Mode of pathogenicity: ; Publications: 29455859; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 NLRP1 Louise Daugherty edited their review of gene: NLRP1: Added comment: Added publication referenced by IUIS december 2019 update; Changed publications: 27662089, 31484767
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 NFE2L2 Louise Daugherty reviewed gene: NFE2L2: Rating: AMBER; Mode of pathogenicity: ; Publications: 29018201; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 LIG1 Louise Daugherty edited their review of gene: LIG1: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 30395541
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 IL6ST Louise Daugherty edited their review of gene: IL6ST: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 30309848, 28747427
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 IL6R Louise Daugherty edited their review of gene: IL6R: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 31235509, 31778705
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 IL2RB Louise Daugherty reviewed gene: IL2RB: Rating: AMBER; Mode of pathogenicity: ; Publications: 31040184, 31040185; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 IKZF1 Louise Daugherty edited their review of gene: IKZF1: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 29889099
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 IKBKB Louise Daugherty edited their review of gene: IKBKB: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 30337470, 24369075
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 ICOSLG Louise Daugherty edited their review of gene: ICOSLG: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 30498080
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 HAVCR2 Louise Daugherty reviewed gene: HAVCR2: Rating: AMBER; Mode of pathogenicity: ; Publications: 30374066, 30792187; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 FOXN1 Louise Daugherty edited their review of gene: FOXN1: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 31447097
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 FERMT1 Louise Daugherty reviewed gene: FERMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: 21936020; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 FCHO1 Louise Daugherty reviewed gene: FCHO1: Rating: AMBER; Mode of pathogenicity: ; Publications: 30822429; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 ERBIN Louise Daugherty edited their review of gene: ERBIN: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 28126831
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 DNASE2 Louise Daugherty edited their review of gene: DNASE2: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 29259162
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 DNASE1L3 Louise Daugherty edited their review of gene: DNASE1L3: Added comment: Added publication referenced by IUIS december 2019 update; Changed publications: 22019780, 23666765, 27821515
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 DNAJC21 Louise Daugherty edited their review of gene: DNAJC21: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 28062395
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 DEF6 Louise Daugherty reviewed gene: DEF6: Rating: AMBER; Mode of pathogenicity: ; Publications: 31308374; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 C17orf62 Louise Daugherty edited their review of gene: C17orf62: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 30361506, 30312704
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 CARD11 Louise Daugherty edited their review of gene: CARD11: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 30170123, 29074947
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 C1S Louise Daugherty edited their review of gene: C1S: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 27745832
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 C1R Louise Daugherty edited their review of gene: C1R: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 27745832
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 ARHGEF1 Louise Daugherty reviewed gene: ARHGEF1: Rating: AMBER; Mode of pathogenicity: ; Publications: 30521495; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 ALPI Louise Daugherty reviewed gene: ALPI: Rating: AMBER; Mode of pathogenicity: ; Publications: 29567797; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 ZNF341 Louise Daugherty Publications for gene ZNF341 were updated from 32048120; 29907691; 29907690; 32086639 to 32086639; 29907691; 32048120; 29907690
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 TRIM22 Louise Daugherty Publications for gene TRIM22 were updated from 32048120; 32086639 to 26836588; 32086639; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 TOP2B Louise Daugherty Publications for gene TOP2B were updated from 32048120; 32086639 to 31409799; 32086639; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 TNFRSF9 Louise Daugherty Publications for gene TNFRSF9 were updated from 32048120; 32086639 to 30872117; 32086639; 31537641; 31501153; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 TGFBR2 Louise Daugherty Publications for gene TGFBR2 were updated from 32048120; 32086639 to 32086639; 32048120; 29392890
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 TGFBR1 Louise Daugherty Publications for gene TGFBR1 were updated from 32048120; 32086639 to 32086639; 32048120; 29392890
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 TGFB1 Louise Daugherty Publications for gene TGFB1 were updated from 32048120; 32086639 to 32086639; 32048120; 29483653
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 SRP54 Louise Daugherty Publications for gene SRP54 were updated from 32048120; 32086639 to 32086639; 28972538; 29914977; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 SLC7A7 Louise Daugherty Publications for gene SLC7A7 were updated from 32086639; 32048120 to 28057010; 32086639; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 SLC39A7 Louise Daugherty Publications for gene SLC39A7 were updated from 32048120; 30718914; 32086639 to 32086639; 32048120; 30718914
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 SH3KBP1 Louise Daugherty Publications for gene SH3KBP1 were updated from 32048120; 32086639 to 32086639; 32048120; 29636373
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 SEC61A1 Louise Daugherty Publications for gene SEC61A1 were updated from 32048120; 32086639 to 28782633; 32086639; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 RELA Louise Daugherty Publications for gene RELA were updated from 32048120; 32086639 to 28600438; 32086639; 32048120; 29305315
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 REL Louise Daugherty Publications for gene REL were updated from 32048120; 32086639 to 32086639; 31103457; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 RAC2 Louise Daugherty Publications for gene RAC2 were updated from 10961859; 10758162; 21167572; 25512081 to 21167572; 30654050; 30723080; 31071452; 25512081; 10758162; 31382036; 10961859
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 PSMG2 Louise Daugherty Publications for gene PSMG2 were updated from 32048120; 32086639 to 30664889; 32086639; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 POLD2 Louise Daugherty Publications for gene POLD2 were updated from 32086639; 32048120 to 31449058; 32086639; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 POLD1 Louise Daugherty Publications for gene POLD1 were updated from 32048120; 32086639 to 31449058; 32086639; 32048120; 31629014
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 OAS1 Louise Daugherty Publications for gene OAS1 were updated from 32048120; 32086639 to 32086639; 29455859; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 NLRP1 Louise Daugherty Publications for gene NLRP1 were updated from 27965258; 29850521 to 29850521; 27662089; 31484767; 27965258
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 NFE2L2 Louise Daugherty Publications for gene NFE2L2 were updated from 32048120; 32086639 to 32086639; 32048120; 29018201
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 LIG1 Louise Daugherty Publications for gene LIG1 were updated from 32048120; 1581963; 32086639 to 30395541; 1581963; 32086639; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 IL6ST Louise Daugherty Publications for gene IL6ST were updated from 32048120; 31235509; 32086639 to 31235509; 32086639; 30309848; 28747427; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 IL6R Louise Daugherty Publications for gene IL6R were updated from 32048120; 31235509; 32086639 to 31235509; 32086639; 32048120; 31778705
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 IL2RB Louise Daugherty Publications for gene IL2RB were updated from 32086639; 32048120 to 32086639; 31040185; 32048120; 31040184
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 IKZF1 Louise Daugherty Publications for gene IKZF1 were updated from 21548011; 26981933 to 29889099; 21548011; 26981933
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 IKBKB Louise Daugherty Publications for gene IKBKB were updated from 24369075; 25216719 to 25216719; 24369075; 30337470
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 ICOSLG Louise Daugherty Publications for gene ICOSLG were updated from 32048120; 32086639 to 32086639; 32048120; 30498080
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 HAVCR2 Louise Daugherty Publications for gene HAVCR2 were updated from 32086639; 32048120 to 30792187; 32086639; 32048120; 30374066
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 FOXN1 Louise Daugherty Publications for gene FOXN1 were updated from 15180707; 10206641; 21507891; 28636882; 28077132; 29593714; 11159512 to 28636882; 15180707; 21507891; 11159512; 31447097; 10206641; 28077132; 29593714
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 FERMT1 Louise Daugherty Publications for gene FERMT1 were updated from 32048120; 32086639 to 32086639; 32048120; 21936020
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 FCHO1 Louise Daugherty Publications for gene FCHO1 were updated from 32048120; 32086639 to 32086639; 30822429; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 ERBIN Louise Daugherty Publications for gene ERBIN were updated from 32086639; 32048120 to 28126831; 32086639; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 DNASE1L3 Louise Daugherty Publications for gene DNASE1L3 were updated from 32048120; 22019780; 32086639 to 27821515; 23666765; 22019780; 32086639; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 DNAJC21 Louise Daugherty Publications for gene DNAJC21 were updated from 27346687; 28062395; 29700810 to 27346687; 29700810; 28062395
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 DEF6 Louise Daugherty Publications for gene DEF6 were updated from 32086639; 32048120 to 32086639; 31308374; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 C17orf62 Louise Daugherty Publications for gene C17orf62 were updated from 32086639; 32048120 to 30312704; 30361506; 32086639; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 CARD11 Louise Daugherty Publications for gene CARD11 were updated from 23374270; 23561803; 28628108; 28826773; 23129749; 25352053 to 25352053; 23374270; 29074947; 23561803; 23129749; 30170123; 28628108; 28826773
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 C1S Louise Daugherty Publications for gene C1S were updated from 11390518; 9856483; 20727163 to 27745832; 11390518; 20727163; 9856483
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 C1R Louise Daugherty Publications for gene C1R were updated from 27745832; 29795138; 28711143; 21784777; 28544690 to 28544690; 21784777; 27745832; 29795138; 28711143
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 ARHGEF1 Louise Daugherty Publications for gene ARHGEF1 were updated from 32086639; 32048120 to 32086639; 30521495; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 ALPI Louise Daugherty Publications for gene ALPI were updated from 32086639; 32048120 to 32086639; 32048120; 29567797
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 ZNF341 Louise Daugherty Source IUIS Classification December 2019 was added to ZNF341.
Added phenotypes Bacterial infections, mild facial dysmorphism, pneumatoceles, hyperextensible joints, bone fractures, retention of primary teeth; Combined immunodeficiencies with associated or syndromic features for gene: ZNF341
Publications for gene ZNF341 were updated from 29907690; 29907691 to 32048120; 29907691; 29907690; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 WRAP53 Louise Daugherty Source IUIS Classification December 2019 was added to WRAP53.
Mode of inheritance for gene WRAP53 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay; Bone marrow failure for gene: WRAP53
Publications for gene WRAP53 were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 WDR1 Louise Daugherty Source IUIS Classification December 2019 was added to WDR1.
Added phenotypes Mild neutropenia, poor wound healing, severe stomatitis, neutrophil nuclei herniate; Congenital defects of phagocyte number or function for gene: WDR1
Publications for gene WDR1 were updated from 27557945 to 32048120; 27557945; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 USP18 Louise Daugherty Source IUIS Classification December 2019 was added to USP18.
Added phenotypes Autoinflammatory Disorders; TORCH like syndrome for gene: USP18
Publications for gene USP18 were updated from 31272490; 27325888 to 32048120; 27325888; 31272490; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 TRAF3IP2 Louise Daugherty Source IUIS Classification December 2019 was added to TRAF3IP2.
Added phenotypes CMC, blepharitis, folliculitis and macroglossia; Defects in intrinsic and innate immunity for gene: TRAF3IP2
Publications for gene TRAF3IP2 were updated from 24120361 to 32048120; 24120361; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 TRAF3 Louise Daugherty Source IUIS Classification December 2019 was added to TRAF3.
Added phenotypes Defects in intrinsic and innate immunity; Herpes simplex virus 1 encephalitis for gene: TRAF3
Publications for gene TRAF3 were updated from 20832341; 11296228; 24378539 to 24378539; 20832341; 32048120; 11296228; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 TNFSF12 Louise Daugherty Source IUIS Classification December 2019 was added to TNFSF12.
Added phenotypes Predominantly Antibody Deficiencies; Pneumonia, bacterial infections, warts, thrombocytopenia for gene: TNFSF12
Publications for gene TNFSF12 were updated from 23493554 to 32048120; 23493554; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 TNFSF11 Louise Daugherty Source IUIS Classification December 2019 was added to TNFSF11.
Mode of inheritance for gene TNFSF11 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Osteopetrosis with severe growth retardation; Defects in intrinsic and innate immunity for gene: TNFSF11
Publications for gene TNFSF11 were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 TNFRSF4 Louise Daugherty Source IUIS Classification December 2019 was added to TNFRSF4.
Added phenotypes Impaired immunity to HHV8, Kaposis sarcoma; Immunodeficiencies affecting cellular and humoral immunity for gene: TNFRSF4
Publications for gene TNFRSF4 were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 TNFRSF13C Louise Daugherty Source IUIS Classification December 2019 was added to TNFRSF13C.
Added phenotypes Variable clinical expression; Predominantly Antibody Deficiencies for gene: TNFRSF13C
Publications for gene TNFRSF13C were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 TNFRSF13B Louise Daugherty Source IUIS Classification December 2019 was added to TNFRSF13B.
Added phenotypes Variable clinical expression; Predominantly Antibody Deficiencies for gene: TNFRSF13B
Publications for gene TNFRSF13B were updated from 16007086; 16007087; 18981294; 28834165; 29114388 to 16007086; 18981294; 29114388; 16007087; 32048120; 28834165; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 TNFRSF11A Louise Daugherty Source IUIS Classification December 2019 was added to TNFRSF11A.
Added phenotypes Osteopetrosis; Defects in intrinsic and innate immunity for gene: TNFRSF11A
Publications for gene TNFRSF11A were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 TIRAP Louise Daugherty Source IUIS Classification December 2019 was added to TIRAP.
Mode of inheritance for gene TIRAP was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Defects in intrinsic and innate immunity; Staphylococcal disease during childhood for gene: TIRAP
Publications for gene TIRAP were updated from 28235196 to 32048120; 28235196; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 THBD Louise Daugherty Source IUIS Classification December 2019 was added to THBD.
Mode of inheritance for gene THBD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Atypical hemolytic-uremic syndrome; Complement Deficiencies for gene: THBD
Publications for gene THBD were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 TFRC Louise Daugherty Source IUIS Classification December 2019 was added to TFRC.
Mode of inheritance for gene TFRC was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Recurrent infections, thrombocytopenia; Immunodeficiencies affecting cellular and humoral immunity for gene: TFRC
Publications for gene TFRC were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 TERC Louise Daugherty Source IUIS Classification December 2019 was added to TERC.
Added phenotypes Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay; Bone marrow failure for gene: TERC
Publications for gene TERC were updated from 16332973; 11574891; 12525685 to 32048120; 12525685; 16332973; 11574891; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 TCIRG1 Louise Daugherty Source IUIS Classification December 2019 was added to TCIRG1.
Mode of inheritance for gene TCIRG1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Defects in intrinsic and innate immunity; Osteopetrosis with hypocalcemia for gene: TCIRG1
Publications for gene TCIRG1 were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 TBX1 Louise Daugherty Source IUIS Classification December 2019 was added to TBX1.
Added phenotypes Hypoparathyroidism, conotruncal cardiac malformation, velopalatal insufficiency, abnormal facies, intellectual disability; Combined immunodeficiencies with associated or syndromic features for gene: TBX1
Publications for gene TBX1 were updated from 24198816; 14585638; 11242110 to 11242110; 14585638; 24198816; 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 TAPBP Louise Daugherty Source IUIS Classification December 2019 was added to TAPBP.
Added phenotypes Vasculitis,pyoderma gangrenosum; Immunodeficiencies affecting cellular and humoral immunity for gene: TAPBP
Publications for gene TAPBP were updated from 12149238 to 32048120; 12149238; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 STN1 Louise Daugherty Source IUIS Classification December 2019 was added to STN1.
Mode of inheritance for gene STN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Intrauterine growth retardation, premature aging, pancytopenia, hypocellular bone marrow, gastrointestinal hemorrhage due to vascular ectasia, intracranial calcification, abnormal telomeres; Bone marrow failure for gene: STN1
Publications for gene STN1 were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 SRP54 Louise Daugherty Source IUIS Classification December 2019 was added to SRP54.
Mode of inheritance for gene SRP54 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Congenital defects of phagocyte number or function; Schwachman Diamond features for gene: SRP54
Publications for gene SRP54 were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 SNX10 Louise Daugherty Source IUIS Classification December 2019 was added to SNX10.
Mode of inheritance for gene SNX10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Osteopetrosis with visual impairment; Defects in intrinsic and innate immunity for gene: SNX10
Publications for gene SNX10 were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 SMARCD2 Louise Daugherty Source IUIS Classification December 2019 was added to SMARCD2.
Mode of inheritance for gene SMARCD2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Neutropenia, developmental aberrations, skeletal abnormalities, hematopoietic stem cells, myelodysplasia; Congenital defects of phagocyte number or function for gene: SMARCD2
Publications for gene SMARCD2 were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 SLC39A7 Louise Daugherty Source IUIS Classification December 2019 was added to SLC39A7.
Added phenotypes Early onset infections, blistering dermatosis, failure to thrive, thrombocytopenia; Predominantly Antibody Deficiencies for gene: SLC39A7
Publications for gene SLC39A7 were updated from 30718914 to 32048120; 30718914; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 SH3BP2 Louise Daugherty Source IUIS Classification December 2019 was added to SH3BP2.
Added phenotypes Bone degeneration in jaws; Autoinflammatory Disorders for gene: SH3BP2
Publications for gene SH3BP2 were updated from 22640988; 28914985; 11381256; 29669173 to 29669173; 22640988; 32048120; 28914985; 11381256; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 SEMA3E Louise Daugherty Source IUIS Classification December 2019 was added to SEMA3E.
Added phenotypes Coloboma, heart anomaly, choanal atresia, intellectual retardation, genital and ear anomalies, CNS malformation, some are SCID-like and have low TRECs; Combined immunodeficiencies with associated or syndromic features for gene: SEMA3E
Publications for gene SEMA3E were updated from 1735828; 21055784; 12144540 to 12144540; 1735828; 32048120; 21055784; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 SAMD9L Louise Daugherty Source IUIS Classification December 2019 was added to SAMD9L.
Added phenotypes Bone marrow failure; MDS, neurological features for gene: SAMD9L
Publications for gene SAMD9L were updated from 28202457 to 32048120; 28202457; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 SAMD9 Louise Daugherty Source IUIS Classification December 2019 was added to SAMD9.
Mode of inheritance for gene SAMD9 was changed from Other - please specifiy in evaluation comments to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes IUGR with gonadal abnormalities, adrenal failure, MDS with chromosome 7 aberrations, predisposition to infections, enteropathy, absent spleen; Bone marrow failure for gene: SAMD9
Publications for gene SAMD9 were updated from 28487541; 29175836; 29266745; 29535429 to 28487541; 29535429; 32048120; 29266745; 29175836; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 RNU4ATAC Louise Daugherty Source IUIS Classification December 2019 was added to RNU4ATAC.
Mode of inheritance for gene RNU4ATAC was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Recurrent bacterial infections, lymphadenopathy, Spondyloepiphyseal dysplasia, extreme intrauterine growth retardation, retinal dystrophy, facial dysmorphism, may present with microcephaly, short stature for gene: RNU4ATAC
Publications for gene RNU4ATAC were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 RNF31 Louise Daugherty Source IUIS Classification December 2019 was added to RNF31.
Added phenotypes Bacterial infections, autoinflammation, amylopectinosis, lymphangiectasia; Combined immunodeficiencies with associated or syndromic features for gene: RNF31
Publications for gene RNF31 were updated from 26008899 to 32048120; 26008899; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 RHOH Louise Daugherty Source IUIS Classification December 2019 was added to RHOH.
Added phenotypes HPV infection, lung granulomas, molluscum contagiosum, lymphoma; Immunodeficiencies affecting cellular and humoral immunity for gene: RHOH
Publications for gene RHOH were updated from 22850876; 24189071 to 32048120; 22850876; 24189071; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 RELB Louise Daugherty Source IUIS Classification December 2019 was added to RELB.
Added phenotypes Recurrent infectionsImmunodeficiencies affecting cellular and humoral immunity for gene: RELB
Publications for gene RELB were updated from 26385063 to 32048120; 26385063; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 RANBP2 Louise Daugherty Source IUIS Classification December 2019 was added to RANBP2.
Added phenotypes Defects in intrinsic and innate immunity; Fever induces acute encephalopathy for gene: RANBP2
Publications for gene RANBP2 were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 PTEN Louise Daugherty Source IUIS Classification December 2019 was added to PTEN.
Added phenotypes Recurrent infections, Lymphoproliferation, Autoimmunity; developmental delay; Predominantly Antibody Deficiencies for gene: PTEN
Publications for gene PTEN were updated from 27426521 to 32048120; 27426521; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 PSENEN Louise Daugherty Source IUIS Classification December 2019 was added to PSENEN.
Added phenotypes Defects in intrinsic and innate immunity; Hidradenitis suppurativa for gene: PSENEN
Publications for gene PSENEN were updated from 20929727; 21412258; 27900998; 28287404; 28601418; 23439959; 23020871; 28922471 to 21412258; 28601418; 23439959; 32048120; 27900998; 28287404; 20929727; 28922471; 23020871; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 POLE2 Louise Daugherty Source IUIS Classification December 2019 was added to POLE2.
Added phenotypes Recurrent infections, disseminated BCG infections, autoimmunity (type 1 diabetes, hypothyroidism, facial dysmorphism); Combined immunodeficiencies with associated or syndromic features for gene: POLE2
Publications for gene POLE2 were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 PMS2 Louise Daugherty Source IUIS Classification December 2019 was added to PMS2.
Mode of inheritance for gene PMS2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Recurrent infections, cafe-au-lait spots, lymphoma, colorectal carcinoma, brain tumors; Combined immunodeficiencies with associated or syndromic features for gene: PMS2
Publications for gene PMS2 were updated from 7661930; 15077197; 9488480; 10763829; 16507833 to 15077197; 32048120; 7661930; 9488480; 16507833; 10763829; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 PLEKHM1 Louise Daugherty Source IUIS Classification December 2019 was added to PLEKHM1.
Mode of inheritance for gene PLEKHM1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Osteopetrosis; Defects in intrinsic and innate immunity for gene: PLEKHM1
Publications for gene PLEKHM1 were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 OSTM1 Louise Daugherty Source IUIS Classification December 2019 was added to OSTM1.
Added phenotypes Osteopetrosis with hypocalcemia, neurologic features; Defects in intrinsic and innate immunity for gene: OSTM1
Publications for gene OSTM1 were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 NFAT5 Louise Daugherty Source IUIS Classification December 2019 was added to NFAT5.
Added phenotypes IBD, recurrent sinopulmonary infections; Diseases of Immune Dysregulation for gene: NFAT5
Publications for gene NFAT5 were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 NCSTN Louise Daugherty Source IUIS Classification December 2019 was added to NCSTN.
Added phenotypes Defects in intrinsic and innate immunity; Hidradenitis suppurativa with acne for gene: NCSTN
Publications for gene NCSTN were updated from 20929727; 21412258 to 32048120; 20929727; 21412258; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 NBAS Louise Daugherty Source IUIS Classification December 2019 was added to NBAS.
Added phenotypes Defects in intrinsic and innate immunity; Fever induces liver failure for gene: NBAS
Publications for gene NBAS were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 MSH6 Louise Daugherty Source IUIS Classification December 2019 was added to MSH6.
Mode of inheritance for gene MSH6 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Predominantly Antibody Deficiencies; Family or personal history of cancer for gene: MSH6
Publications for gene MSH6 were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 MS4A1 Louise Daugherty Source IUIS Classification December 2019 was added to MS4A1.
Added phenotypes Recurrent infections; Predominantly Antibody Deficiencies for gene: MS4A1
Publications for gene MS4A1 were updated from 20038800; 27250108 to 32048120; 27250108; 20038800; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 MKL1 Louise Daugherty Source IUIS Classification December 2019 was added to MKL1.
Added phenotypes Mild thrombocytopenia; Congenital defects of phagocyte number or function for gene: MKL1
Publications for gene MKL1 were updated from 26224645 to 32048120; 26224645; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 MASP2 Louise Daugherty Source IUIS Classification December 2019 was added to MASP2.
Added phenotypes Pyogenic infections, inflammatory lung disease, autoimmunity; Complement Deficiencies for gene: MASP2
Publications for gene MASP2 were updated from 24658431 to 32048120; 24658431; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 LIG1 Louise Daugherty Source IUIS Classification December 2019 was added to LIG1.
Added phenotypes Recurrent respiratory infections, growth retardation, sun sensitivity, lymphoma, radiation sensitivity; Combined immunodeficiencies with associated or syndromic features for gene: LIG1
Publications for gene LIG1 were updated from 1581963 to 32048120; 1581963; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 KMT2D Louise Daugherty Source IUIS Classification December 2019 was added to KMT2D.
Added phenotypes Typical facial abnormalities, cleft or high arched palate, skeletal abnormalities, short stature, intellectual disability, congenital heart defects, recurrent infections (otitis media, pneumonia) in 50% of patients. Autoimmunity may be present; Combined immunodeficiencies with associated or syndromic features for gene: KMT2D
Publications for gene KMT2D were updated from 15887282; 25142838; 15523604; 26411453 to 25142838; 32048120; 15887282; 15523604; 26411453; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 KMT2A Louise Daugherty Source IUIS Classification December 2019 was added to KMT2A.
Added phenotypes Respiratory infections, short stature, hypertelorism, hairy elbows, developmental delay, intellectual disability; Combined immunodeficiencies with associated or syndromic features for gene: KMT2A
Publications for gene KMT2A were updated from 27320412 to 32048120; 27320412; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 KDM6A Louise Daugherty Source IUIS Classification December 2019 was added to KDM6A.
Added phenotypes Typical facial abnormalities, cleft or high arched palate, skeletal abnormalities, short stature, intellectual disability, congenital heart defects, recurrent infections (otitis media, pneumonia) in 50% of patients. Autoimmunity may be present; Combined immunodeficiencies with associated or syndromic features for gene: KDM6A
Publications for gene KDM6A were updated from 26411453; 25546742; 15887282; 25142838; 15523604 to 25546742; 25142838; 32048120; 15887282; 15523604; 26411453; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 JAK1 Louise Daugherty Source IUIS Classification December 2019 was added to JAK1.
Mode of inheritance for gene JAK1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Diseases of Immune Dysregulation; HSM, eosinophilic enteritis, thyroid disease, poor growth, viral infections for gene: JAK1
Publications for gene JAK1 were updated from 28111307 to 32048120; 28111307; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 IRF7 Louise Daugherty Source IUIS Classification December 2019 was added to IRF7.
Added phenotypes Severe influenza disease for gene: IRF7
Publications for gene IRF7 were updated from 25814066; 26761402; 9315633 to 26761402; 25814066; 9315633; 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 IRF3 Louise Daugherty Source IUIS Classification December 2019 was added to IRF3.
Added phenotypes Herpes simplex virus 1 encephalitis for gene: IRF3
Publications for gene IRF3 were updated from 26216125; 26513235 to 32048120; 26216125; 26513235; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 IRF2BP2 Louise Daugherty Source IUIS Classification December 2019 was added to IRF2BP2.
Added phenotypes Recurrent infections, possible autoimmunity and inflammatory disease; Predominantly Antibody Deficiencies for gene: IRF2BP2
Publications for gene IRF2BP2 were updated from 27016798 to 32048120; 27016798; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 IRAK1 Louise Daugherty Source IUIS Classification December 2019 was added to IRAK1.
Mode of inheritance for gene IRAK1 was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Bacterial infections, X-linked MECP2 deficiency-related syndrome due to a large de novo Xq28 chromosomal deletion encompassing both MECP2 and IRAK1 for gene: IRAK1
Publications for gene IRAK1 were updated from 28069966 to 32048120; 28069966; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 IL6ST Louise Daugherty Source IUIS Classification December 2019 was added to IL6ST.
Added phenotypes Bacterial infections, boiles, eczema, pulmonary abscesses, pneumatoceles, bone fractures, scoliosis, retention of primary teeth, craniosynostosis; Combined immunodeficiencies with associated or syndromic features for gene: IL6ST
Publications for gene IL6ST were updated from 31235509 to 32048120; 31235509; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 IL6R Louise Daugherty Source IUIS Classification December 2019 was added to IL6R.
Added phenotypes Recurrent pyogenic infections, cold abscesses, high circulating IL-6 levels; Combined immunodeficiencies with associated or syndromic features for gene: IL6R
Publications for gene IL6R were updated from 31235509 to 32048120; 31235509; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 IL21 Louise Daugherty Source IUIS Classification December 2019 was added to IL21.
Added phenotypes Severe early onset colitis, recurrent sinopulmonary infections; Immunodeficiencies affecting cellular and humoral immunity for gene: IL21
Publications for gene IL21 were updated from 24746753 to 32048120; 24746753; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 IL17F Louise Daugherty Source IUIS Classification December 2019 was added to IL17F.
Added phenotypes CMC, folliculitis for gene: IL17F
Publications for gene IL17F were updated from 21350122 to 32048120; 21350122; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 IGKC Louise Daugherty Source IUIS Classification December 2019 was added to IGKC.
Added phenotypes Asymptomatic; Predominantly Antibody Deficiencies for gene: IGKC
Publications for gene IGKC were updated from 4185453 to 32048120; 4185453; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 IFNAR2 Louise Daugherty Source IUIS Classification December 2019 was added to IFNAR2.
Added phenotypes Severe viral infections (disseminated vaccine-strain measles, HHV6) for gene: IFNAR2
Publications for gene IFNAR2 were updated from 26424569 to 32048120; 26424569; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 ICOSLG Louise Daugherty Source IUIS Classification December 2019 was added to ICOSLG.
Mode of inheritance for gene ICOSLG was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Recurrent bacterial and viral infections; Immunodeficiencies affecting cellular and humoral immunity for gene: ICOSLG
Publications for gene ICOSLG were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 HYOU1 Louise Daugherty Source IUIS Classification December 2019 was added to HYOU1.
Mode of inheritance for gene HYOU1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hypoglycemia, inflammatory complications; Congenital defects of phagocyte number or function for gene: HYOU1
Publications for gene HYOU1 were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 FPR1 Louise Daugherty Source IUIS Classification December 2019 was added to FPR1.
Added phenotypes Periodontitis only; Congenital defects of phagocyte number or function for gene: FPR1
Publications for gene FPR1 were updated from 10882119; 20203610; 8224916; 2910576; 28371599; 29105764 to 20203610; 29105764; 8224916; 10882119; 32048120; 28371599; 2910576; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 FCN3 Louise Daugherty Source IUIS Classification December 2019 was added to FCN3.
Added phenotypes Respiratory infections, abscesses for gene: FCN3
Publications for gene FCN3 were updated from 19535802; 20971976; 22226667; 25662573 to 22226667; 32048120; 20971976; 19535802; 25662573; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 FCGR3A Louise Daugherty Source IUIS Classification December 2019 was added to FCGR3A.
Added phenotypes severe herpes viral infections, particularly VZV, Epstein Barr virus (EBV), and (HPV) for gene: FCGR3A
Publications for gene FCGR3A were updated from 8608639; 8874200; 23006327; 8609432 to 8874200; 23006327; 32048120; 8609432; 8608639; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 FAAP24 Louise Daugherty Source IUIS Classification December 2019 was added to FAAP24.
Added phenotypes Diseases of Immune Dysregulation; EBV infection-driven lymphoproliferative disease for gene: FAAP24
Publications for gene FAAP24 were updated from 27473539 to 32048120; 27473539; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 DNASE1L3 Louise Daugherty Source IUIS Classification December 2019 was added to DNASE1L3.
Added phenotypes Systemic lupus erythematosus, lupus nephritis, hypocomplementemic urticarial vasculitis; Autoinflammatory Disorders for gene: DNASE1L3
Publications for gene DNASE1L3 were updated from 22019780 to 32048120; 22019780; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 CTC1 Louise Daugherty Source IUIS Classification December 2019 was added to CTC1.
Added phenotypes Intrauterine growth retardation, sparse graying hair, dystrophic nails, trilinear bone marrow failure, osteopenia, gastrointestinal hemorrhage due to vascular ectasia, retinal telangiectasia, intracranial calcification, abnormal telomeres; Bone marrow failure for gene: CTC1
Publications for gene CTC1 were updated from 22267198 to 32048120; 22267198; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 CLCN7 Louise Daugherty Source IUIS Classification December 2019 was added to CLCN7.
Mode of inheritance for gene CLCN7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Osteopetrosis with hypocalcemia, neurologic features for gene: CLCN7
Publications for gene CLCN7 were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 CFTR Louise Daugherty Source IUIS Classification December 2019 was added to CFTR.
Added phenotypes Respiratory infections, pancreatic insufficiency, elevated sweat chloride; Congenital defects of phagocyte number or function for gene: CFTR
Publications for gene CFTR were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 CFHR5 Louise Daugherty Source IUIS Classification December 2019 was added to CFHR5.
Added phenotypes Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections for gene: CFHR5
Publications for gene CFHR5 were updated from 20800271; 22503529; 28673452 to 32048120; 28673452; 20800271; 22503529; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 CFHR4 Louise Daugherty Source IUIS Classification December 2019 was added to CFHR4.
Mode of inheritance for gene CFHR4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections for gene: CFHR4
Publications for gene CFHR4 were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 CFHR3 Louise Daugherty Source IUIS Classification December 2019 was added to CFHR3.
Added phenotypes Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections for gene: CFHR3
Publications for gene CFHR3 were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 CFHR2 Louise Daugherty Source IUIS Classification December 2019 was added to CFHR2.
Mode of inheritance for gene CFHR2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections for gene: CFHR2
Publications for gene CFHR2 were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 CFHR1 Louise Daugherty Source IUIS Classification December 2019 was added to CFHR1.
Added phenotypes Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections for gene: CFHR1
Publications for gene CFHR1 were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 CD8A Louise Daugherty Source IUIS Classification December 2019 was added to CD8A.
Added phenotypes Recurrent infections, may be asymptomatic; Immunodeficiencies affecting cellular and humoral immunity for gene: CD8A
Publications for gene CD8A were updated from 11435463; 17658607 to 32048120; 17658607; 11435463; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 CD81 Louise Daugherty Source IUIS Classification December 2019 was added to CD81.
Added phenotypes Recurrent infections, may have glomerulonephritis; Predominantly Antibody Deficiencies for gene: CD81
Publications for gene CD81 were updated from 20237408; 14530327; 27250108 to 27250108; 14530327; 20237408; 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 C8G Louise Daugherty Source IUIS Classification December 2019 was added to C8G.
Added phenotypes Disseminated neisserial infections for gene: C8G
Publications for gene C8G were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 BCL11B Louise Daugherty Source IUIS Classification December 2019 was added to BCL11B.
Added phenotypes Congenital abnormalities, neonatal teeth, dysmorphic facies, absent corpus callosum, neurocognitive deficits; Combined immunodeficiencies with associated or syndromic features for gene: BCL11B
Publications for gene BCL11B were updated from 29296816; 27959755 to 32048120; 27959755; 29296816; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 BCL10 Louise Daugherty Source IUIS Classification December 2019 was added to BCL10.
Added phenotypes Recurrent bacterial and viral infections, candidiasis, gastroenteritis; Immunodeficiencies affecting cellular and humoral immunity for gene: BCL10
Publications for gene BCL10 were updated from 25365219 to 32048120; 25365219; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 APOL1 Louise Daugherty Source IUIS Classification December 2019 was added to APOL1.
Mode of inheritance for gene APOL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Trypanosomiasis for gene: APOL1
Publications for gene APOL1 were updated from 25100047; 29470556; 16720107; 28537557; 15894515; 28827791; 29077717 to 28827791; 29470556; 32048120; 28537557; 16720107; 15894515; 25100047; 29077717; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 AP3D1 Louise Daugherty Source IUIS Classification December 2019 was added to AP3D1.
Added phenotypes Oculocutaneous albinism, recurrent infections, seizures, hearing loss and neurodevelopmental delay for gene: AP3D1
Publications for gene AP3D1 were updated from 26744459 to 32048120; 26744459; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 AP1S3 Louise Daugherty Source IUIS Classification December 2019 was added to AP1S3.
Added phenotypes Pustular psoriasis; Autoinflammatory Disorders for gene: AP1S3
Publications for gene AP1S3 were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 ADAM17 Louise Daugherty Source IUIS Classification December 2019 was added to ADAM17.
Added phenotypes Early onset diarrhea and skin lesions; Autoinflammatory Disorders for gene: ADAM17
Publications for gene ADAM17 were updated from 25058236; 28930861; 22010916; 25171914; 11149563; 20603312 to 22010916; 28930861; 20603312; 32048120; 25171914; 11149563; 25058236; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 ACTB Louise Daugherty Source IUIS Classification December 2019 was added to ACTB.
Mode of inheritance for gene ACTB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Mental retardation, short stature; Congenital defects of phagocyte number or function for gene: ACTB
Publications for gene ACTB were updated from 10411937 to 32048120; 10411937; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.33 TINF2 Louise Daugherty Phenotypes for gene: TINF2 were changed from DBone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay; Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay exudative retinopathy to Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay; Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay exudative retinopathy
Primary immunodeficiency or monogenic inflammatory bowel disease v2.32 TINF2 Louise Daugherty Phenotypes for gene: TINF2 were changed from Dyskeratosis congenita 3; Dyskeratosis congenita; Hoyeraal-Hreidarsson syndrome; Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients; Combined immunodeficiencies with associated or syndromic features to DBone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay; Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay exudative retinopathy
Primary immunodeficiency or monogenic inflammatory bowel disease v2.31 TERT Louise Daugherty Phenotypes for gene: TERT were changed from Dyskeratosis congenita 2 613989, Dyskeratosis congenita 4 613989; Dyskeratosis congenita; Hoyeraal-Hreidarsson syndrome; Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients; Combined immunodeficiencies with associated or syndromic features to Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay; Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay; Bone marrow failure
Primary immunodeficiency or monogenic inflammatory bowel disease v2.30 RAC2 Louise Daugherty Phenotypes for gene: RAC2 were changed from T-B- SCID; T-B+ SCID; Neutrophil immunodeficiency syndrome 608203; Neutrophil immunodeficiency syndrome; RAS-related C3 Bolutinum toxin substrate 2 deficiency (RAC2); Poor wound healing, leukocytosis; Congenital defects of phagocyte number or function to T-B- SCID; T-B+ SCID; Neutrophil immunodeficiency syndrome 608203; Neutrophil immunodeficiency syndrome; RAS-related C3 Bolutinum toxin substrate 2 deficiency (RAC2); Poor wound healing, leukocytosis; Congenital defects of phagocyte number or function; Reticular dysgenesis; Recurrent sinopulmonary infections, selective IgA defiency; poststreptococcal glomerulonephritis; urticaria
Primary immunodeficiency or monogenic inflammatory bowel disease v2.29 NLRP1 Louise Daugherty Phenotypes for gene: NLRP1 were changed from Dyskeratosis, autoimmunity and arthritis; Autoinflammatory Disorders; Autoinflammation with arthritis and dyskeratosis to Dyskeratosis, autoimmunity and arthritis; Palmoplantar carcinoma, corneal scarring; Autoinflammatory Disorders; Autoinflammation with arthritis and dyskeratosis
Primary immunodeficiency or monogenic inflammatory bowel disease v2.28 TINF2 Louise Daugherty commented on gene: TINF2: OriginaI Metadata from IUIS classification table (December, 2019). IUIS Genetic defect (original gene symbol in IUIS download): TINF2. PanelApp HGNC gene symbol check: TINF2 . IUIS Disease: AD-DKC due to TINF2 deficiency . IUIS Inheritance: AD .T cells: normal to low / normal to low .B cells: normal to low / normal to low, .IUIS Other affected cells: Hematopoietic stem cell / Hematopoietic stem cell. IUIS Associated features: Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay. IUIS Major category: Bone marrow failure IUIS Subcategory: none given
Primary immunodeficiency or monogenic inflammatory bowel disease v2.28 TERT Louise Daugherty commented on gene: TERT: OriginaI Metadata from IUIS classification table (December, 2019). IUIS Genetic defect (original gene symbol in IUIS download): TERT .PanelApp HGNC gene symbol check: TERT . IUIS Disease: AD/AR-DKC due to TERT deficiency . IUIS Inheritance: AD or AR .T cells: normal to low / normal to low, .B cells: Normal to low / normal to low, .IUIS Other affected cells: Hematopoietic stem cell / Hematopoietic stem cell. IUIS Associated features: Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay / Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay. IUIS Major category: Bone marrow failure, UIS Subcategory: none given
Primary immunodeficiency or monogenic inflammatory bowel disease v2.28 RAC2 Louise Daugherty Added comment: Comment on mode of inheritance: changed MOI due to IUIS December 2019 update
Primary immunodeficiency or monogenic inflammatory bowel disease v2.28 RAC2 Louise Daugherty Mode of inheritance for gene: RAC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.27 RAC2 Louise Daugherty commented on gene: RAC2: Original Metadata from IUIS classification table (December, 2019). IUIS Genetic defect (original gene symbol in IUIS download): RAC2 .PanelApp HGNC gene symbol check: RAC2 . IUIS Disease: RAC2 deficiency . IUIS Inheritance: AD GOF / AR / AD LOF, T cells: Very low / no data, .B cells: Very low / no data, Immunoglobulin levels: Low / low, Neutrophil count: Low / High.IUIS Other affected cells: N. IUIS Associated features: Reticular dysgenesis / Recurrent sinopulmonary infections, selective IgA defiency; poststreptococcal glomerulonephritis; urticaria Poor wound healing, leukocytosis, IUIS Major category: TImmunodeficiencies affecting cellular and humoral immunity / Predominantly Antibody Deficiencies / Congenital defects of phagocyte number or function. IUIS Subcategory: T-B- SCID / CVID Phenotype/ Defects of Motility
Primary immunodeficiency or monogenic inflammatory bowel disease v2.27 NLRP1 Louise Daugherty commented on gene: NLRP1: Original Metadata from IUIS classification table (December, 2019). IUIS Genetic defect (original gene symbol in IUIS download): NLRP1 .PanelApp HGNC gene symbol check: NLRP1 . IUIS Disease: NLRP1 deficiency . IUIS Inheritance: AR / AD GOF .T cells: Normal / Normal, .B cells: Normal / Normal, Immunoglobulin levels: Normal / Normal, Neutrophil count: Normal / Normal IUIS Other affected cells: leukocytes / Keratinocytes. IUIS Associated features: Dyskeratosis, autoimmunity and arthritis / Palmoplantar carcinoma, corneal scarring, IUIS Major category: Autoinflammatory Disorders. IUIS Subcategory: Defects Affecting the Inflammasome
Primary immunodeficiency or monogenic inflammatory bowel disease v2.27 CFB Louise Daugherty changed review comment from: OriginaI Metadata from IUIS classification table (December, 2019). IUIS Genetic defect (original gene symbol in IUIS download): CFB .PanelApp HGNC gene symbol check: CFB . IUIS Disease: Factor B . IUIS Inheritance: AD .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Atypical Hemolytic-uremic syndrome. IUIS Major category: Complement Deficiencies. IUIS Subcategory: N/A. // OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): CFB .PanelApp HGNC gene symbol check: CFB . IUIS Disease: Factor B . IUIS Inheritance: AD GOF / AR .T cells: Normal / Normal , .B cells: Normal / Normal, Immunoglobulin levels:Normal / Normal, Neutrophil count: Normal / Normal .IUIS Other affected cells: N/A. IUIS Associated features: Infections with encapsulated organisms. IUIS Major category: Complement Deficiencies. IUIS Subcategory: N/A.; to: OriginaI Metadata from IUIS classification table (December, 2019). IUIS Genetic defect (original gene symbol in IUIS download): CFB .PanelApp HGNC gene symbol check: CFB . IUIS Disease: Factor B . IUIS Inheritance: AD .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Atypical Hemolytic-uremic syndrome. IUIS Major category: Complement Deficiencies. IUIS Subcategory: N/A. // OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): CFB .PanelApp HGNC gene symbol check: CFB . IUIS Disease: Factor B . IUIS Inheritance: AD GOF / AR .T cells: Normal / Normal , .B cells: Normal / Normal, Immunoglobulin levels:Normal / Normal, Neutrophil count: Normal / Normal .IUIS Other affected cells: N/A. IUIS Associated features: Infections with encapsulated organisms. IUIS Major category: Complement Deficiencies. IUIS Subcategory: N/A.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.27 CFB Louise Daugherty commented on gene: CFB: OriginaI Metadata from IUIS classification table (December, 2019). IUIS Genetic defect (original gene symbol in IUIS download): CFB .PanelApp HGNC gene symbol check: CFB . IUIS Disease: Factor B . IUIS Inheritance: AD .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Atypical Hemolytic-uremic syndrome. IUIS Major category: Complement Deficiencies. IUIS Subcategory: N/A. // OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): CFB .PanelApp HGNC gene symbol check: CFB . IUIS Disease: Factor B . IUIS Inheritance: AD GOF / AR .T cells: Normal / Normal , .B cells: Normal / Normal, Immunoglobulin levels:Normal / Normal, Neutrophil count: Normal / Normal .IUIS Other affected cells: N/A. IUIS Associated features: Infections with encapsulated organisms. IUIS Major category: Complement Deficiencies. IUIS Subcategory: N/A.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.27 SLC7A7 Louise Daugherty Publications for gene: SLC7A7 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v2.26 SLC7A7 Louise Daugherty Phenotypes for gene: SLC7A7 were changed from to Lysinuric protein intolerance SLC7A7 deficiency; Severe bacterial infections; Predominantly Antibody Deficiencies; Lysinuric protein intolerance, 222700
Primary immunodeficiency or monogenic inflammatory bowel disease v2.25 SLC7A7 Louise Daugherty Mode of inheritance for gene: SLC7A7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.24 POLD2 Louise Daugherty Publications for gene: POLD2 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v2.23 POLD2 Louise Daugherty Phenotypes for gene: POLD2 were changed from to Polymerase d 2 deficiency; Recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability; Immunodeficiencies affecting cellular and humoral immunity
Primary immunodeficiency or monogenic inflammatory bowel disease v2.22 POLD2 Louise Daugherty Mode of inheritance for gene: POLD2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.21 IL2RB Louise Daugherty Publications for gene: IL2RB were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v2.20 IL2RB Louise Daugherty Phenotypes for gene: IL2RB were changed from to CD122 deficiency; Lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune hemolytic anemia, dermatitis, enteropathy, recurrent viral (EBV, CMV) infections; Immunodeficiency 63 with lymphoproliferation and autoimmunity, 618495
Primary immunodeficiency or monogenic inflammatory bowel disease v2.19 IL2RB Louise Daugherty Mode of inheritance for gene: IL2RB was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.18 DEF6 Louise Daugherty Publications for gene: DEF6 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v2.17 DEF6 Louise Daugherty Phenotypes for gene: DEF6 were changed from to DEF6 deficiency; Enteropathy, hepatosplenomegaly, cardiomyopathy, recurrent infections; Diseases of Immune Dysregulation
Primary immunodeficiency or monogenic inflammatory bowel disease v2.16 DEF6 Louise Daugherty Mode of inheritance for gene: DEF6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.15 SLC7A7 Louise Daugherty gene: SLC7A7 was added
gene: SLC7A7 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: SLC7A7 was set to
Primary immunodeficiency or monogenic inflammatory bowel disease v2.15 POLD2 Louise Daugherty gene: POLD2 was added
gene: POLD2 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: POLD2 was set to
Primary immunodeficiency or monogenic inflammatory bowel disease v2.15 IL2RB Louise Daugherty gene: IL2RB was added
gene: IL2RB was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: IL2RB was set to
Primary immunodeficiency or monogenic inflammatory bowel disease v2.15 DEF6 Louise Daugherty gene: DEF6 was added
gene: DEF6 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: DEF6 was set to
Primary immunodeficiency or monogenic inflammatory bowel disease v2.14 TGFB1 Louise Daugherty gene: TGFB1 was added
gene: TGFB1 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: TGFB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TGFB1 were set to 32048120; 32086639
Phenotypes for gene: TGFB1 were set to Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213; IBD, immunodeficiency, recurrent viral infections, microcephaly, and encephalopathy; Diseases of Immune Dysregulation; TGFB1 deficiency
Primary immunodeficiency or monogenic inflammatory bowel disease v2.14 PSMG2 Louise Daugherty gene: PSMG2 was added
gene: PSMG2 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: PSMG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMG2 were set to 32048120; 32086639
Phenotypes for gene: PSMG2 were set to CANDLE (chronic atypical neutrophilic dermatitis with lipodystrophy); Panniculitis, lipodystrophy, autoimmune hemolytic anemia; Autoinflammatory Disorders
Primary immunodeficiency or monogenic inflammatory bowel disease v2.14 NFE2L2 Louise Daugherty gene: NFE2L2 was added
gene: NFE2L2 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: NFE2L2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NFE2L2 were set to 32048120; 32086639
Phenotypes for gene: NFE2L2 were set to white matter cerebral lesions, increased level of homocysteine; Recurrent respiratory and skin infections, growth retardation, , developmental delay; Immunodeficiency, developmental delay, and hypohomocysteinemia, 617744; NFE2L2 GOF; increased expression of stress response genes; Combined immunodeficiencies with associated or syndromic features
Primary immunodeficiency or monogenic inflammatory bowel disease v2.14 FCHO1 Louise Daugherty gene: FCHO1 was added
gene: FCHO1 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: FCHO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FCHO1 were set to 32048120; 32086639
Phenotypes for gene: FCHO1 were set to Recurrent infections, lymphoproliferation, increased activation-induced T-cell death, defective clathrin-mediated endocytosis; FCHO1 deficiency; Immunodeficiencies affecting cellular and humoral immunity
Primary immunodeficiency or monogenic inflammatory bowel disease v2.13 SH3KBP1 Louise Daugherty gene: SH3KBP1 was added
gene: SH3KBP1 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: SH3KBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SH3KBP1 were set to 32048120; 32086639
Phenotypes for gene: SH3KBP1 were set to SH3KBP1 (CIN85) deficiency; Severe bacterial infections; Predominantly Antibody Deficiencies; Immunodeficiency 61, 300310
Primary immunodeficiency or monogenic inflammatory bowel disease v2.13 SEC61A1 Louise Daugherty gene: SEC61A1 was added
gene: SEC61A1 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: SEC61A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SEC61A1 were set to 32048120; 32086639
Phenotypes for gene: SEC61A1 were set to SEC61A1 deficiency; Severe recurrent respiratory tract infections; Hyperuricemic nephropathy, familial juvenile, 4, 617056; Predominantly Antibody Deficiencies
Primary immunodeficiency or monogenic inflammatory bowel disease v2.13 RELA Louise Daugherty gene: RELA was added
gene: RELA was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: RELA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RELA were set to 32048120; 32086639
Phenotypes for gene: RELA were set to Mucocutaneous ulceration, chronic, 618287; RelA haplosufficiency; Mucosal ulceration, impaired NFkB activation; Immunodeficiencies affecting cellular and humoral immunity
Primary immunodeficiency or monogenic inflammatory bowel disease v2.13 REL Louise Daugherty gene: REL was added
gene: REL was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: REL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: REL were set to 32048120; 32086639
Phenotypes for gene: REL were set to Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic infections; c-Rel deficiency; Immunodeficiencies affecting cellular and humoral immunity
Primary immunodeficiency or monogenic inflammatory bowel disease v2.13 POLD1 Louise Daugherty gene: POLD1 was added
gene: POLD1 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: POLD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLD1 were set to 32048120; 32086639
Phenotypes for gene: POLD1 were set to Recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability; Polymerase d 1 deficiency; Immunodeficiencies affecting cellular and humoral immunity
Primary immunodeficiency or monogenic inflammatory bowel disease v2.13 OAS1 Louise Daugherty gene: OAS1 was added
gene: OAS1 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: OAS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: OAS1 were set to 32048120; 32086639
Phenotypes for gene: OAS1 were set to Autoinflammatory Disorders; Pulmonary alveolar proteinosis, skin rash; OAS1 GOF
Primary immunodeficiency or monogenic inflammatory bowel disease v2.13 FERMT1 Louise Daugherty gene: FERMT1 was added
gene: FERMT1 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: FERMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FERMT1 were set to 32048120; 32086639
Phenotypes for gene: FERMT1 were set to Kindler syndrome, 173650; FERMT1 deficiency (Kindler syndrome); Diseases of Immune Dysregulation; Dermatosis characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling
Primary immunodeficiency or monogenic inflammatory bowel disease v2.13 TGFBR1 Louise Daugherty gene: TGFBR1 was added
gene: TGFBR1 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TGFBR1 were set to 32048120; 32086639
Phenotypes for gene: TGFBR1 were set to Recurrent respiratory infectons, eczema, food allergies, hyperextensible joints, scoliosis, retention of primary teeths, aortic anuerysms; Loeys Dietz syndrome due to TGFBR1 deficiency; Loeys-Dietz syndrome 1, 609192; Combined immunodeficiencies with associated or syndromic features
Primary immunodeficiency or monogenic inflammatory bowel disease v2.13 TGFBR2 Louise Daugherty gene: TGFBR2 was added
gene: TGFBR2 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TGFBR2 were set to 32048120; 32086639
Phenotypes for gene: TGFBR2 were set to Recurrent respiratory infections, eczema, food allergies, hyperextensible joints, scoliosis, retention of primary teeths, aortic anuerysms; ALPS-FAS; Combined immunodeficiencies with associated or syndromic features
Primary immunodeficiency or monogenic inflammatory bowel disease v2.13 TNFRSF9 Louise Daugherty gene: TNFRSF9 was added
gene: TNFRSF9 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: TNFRSF9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNFRSF9 were set to 32048120; 32086639
Phenotypes for gene: TNFRSF9 were set to CD137 deficiency (41BB); EBV lymphoproliferation, B-cell lymphoma
Primary immunodeficiency or monogenic inflammatory bowel disease v2.13 TRIM22 Louise Daugherty gene: TRIM22 was added
gene: TRIM22 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: TRIM22 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIM22 were set to 32048120; 32086639
Phenotypes for gene: TRIM22 were set to Autoinflammatory Disorders; Granulomatous colitis; Diseases of Immune Dysregulation; TRIM22
Primary immunodeficiency or monogenic inflammatory bowel disease v2.13 TOP2B Louise Daugherty gene: TOP2B was added
gene: TOP2B was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: TOP2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TOP2B were set to 32048120; 32086639
Phenotypes for gene: TOP2B were set to Recurrent infections, facial dysmorphism, limb anomalies; Predominantly Antibody Deficiencies; Hoffman syndrome/TOP2B deficiency
Primary immunodeficiency or monogenic inflammatory bowel disease v2.12 PIK3CD Louise Daugherty Publications for gene: PIK3CD were set to 24165795; 24136356
Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 ERBIN Louise Daugherty commented on gene: ERBIN
Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 ERBIN Louise Daugherty Tag new-gene-name tag was added to gene: ERBIN.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 C17orf62 Louise Daugherty commented on gene: C17orf62
Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 C17orf62 Louise Daugherty Tag new-gene-name tag was added to gene: C17orf62.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 HAVCR2 Louise Daugherty gene: HAVCR2 was added
gene: HAVCR2 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: HAVCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAVCR2 were set to 32086639; 32048120
Phenotypes for gene: HAVCR2 were set to Tim-3 deficiency; T-cell lymphoma, subcutaneous panniculitis-like, HLH; T-cell lymphoma, subcutaneous panniculitis-like, 618398; Autoinflammatory Disorders
Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 FANCM Louise Daugherty gene: FANCM was added
gene: FANCM was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: FANCM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCM were set to 32086639; 32048120
Phenotypes for gene: FANCM were set to Bone marrow failure; Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage; Fanconi Anemia Type M
Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 FANCI Louise Daugherty gene: FANCI was added
gene: FANCI was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCI were set to 32086639; 32048120
Phenotypes for gene: FANCI were set to Fanconi anemia, complementation group I, 609053; Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage; Fanconi Anemia Type I; Bone marrow failure
Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 FANCF Louise Daugherty gene: FANCF was added
gene: FANCF was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCF were set to 32086639; 32048120
Phenotypes for gene: FANCF were set to Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage; Fanconi Anemia Type F; Fanconi anemia, complementation group F, 603467; Bone marrow failure
Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 ERCC4 Louise Daugherty gene: ERCC4 was added
gene: ERCC4 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC4 were set to 32086639; 32048120
Phenotypes for gene: ERCC4 were set to Fanconi anemia, complementation group Q, 615272; Bone marrow failure; Fanconi Anemia Type Q; Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage
Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 ERBIN Louise Daugherty gene: ERBIN was added
gene: ERBIN was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: ERBIN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ERBIN were set to 32086639; 32048120
Phenotypes for gene: ERBIN were set to ERBIN deficiency; Combined immunodeficiencies with associated or syndromic features; Recurrent respiratory infections, susceptibility to S. aureus, eczema, hyperextensible joints, scoliosis, arterial dilatation in some
Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 DBR1 Louise Daugherty gene: DBR1 was added
gene: DBR1 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: DBR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DBR1 were set to 32086639; 32048120
Phenotypes for gene: DBR1 were set to DBR1 deficiency; Defects in intrinsic and innate immunity; HSE of the brainstem. Other viral infections of the brainstem
Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 C17orf62 Louise Daugherty gene: C17orf62 was added
gene: C17orf62 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: C17orf62 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C17orf62 were set to 32086639; 32048120
Phenotypes for gene: C17orf62 were set to Autosomal recessive CGD EROS; Congenital defects of phagocyte number or function
Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 BRCA2 Louise Daugherty gene: BRCA2 was added
gene: BRCA2 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRCA2 were set to 32086639; 32048120
Phenotypes for gene: BRCA2 were set to Fanconi anemia, complementation group D1, 605724; Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage; Bone marrow failure; Fanconi Anemia Type D1
Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 BRCA1 Louise Daugherty gene: BRCA1 was added
gene: BRCA1 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: BRCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRCA1 were set to 32086639; 32048120
Phenotypes for gene: BRCA1 were set to Fanconi anemia, complementation group S, 617883; normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage; Bone marrow failure; Fanconi Anemia Type S
Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 ARHGEF1 Louise Daugherty gene: ARHGEF1 was added
gene: ARHGEF1 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: ARHGEF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARHGEF1 were set to 32086639; 32048120
Phenotypes for gene: ARHGEF1 were set to Predominantly Antibody Deficiencies; Recurrent infections, bronchiectasis; Immunodeficiency 62, 618459; ARHGEF1 deficiency
Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 ALPI Louise Daugherty gene: ALPI was added
gene: ALPI was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: ALPI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALPI were set to 32086639; 32048120
Phenotypes for gene: ALPI were set to Autoinflammatory Disorders; ALPI deficiency; Inflammatory bowel disease
Primary immunodeficiency or monogenic inflammatory bowel disease v2.10 ZNF341 Louise Daugherty Classified gene: ZNF341 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.10 ZNF341 Louise Daugherty Added comment: Comment on list classification: New gene added for review
Primary immunodeficiency or monogenic inflammatory bowel disease v2.10 ZNF341 Louise Daugherty Gene: znf341 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.9 SNORA31 Louise Daugherty Classified gene: SNORA31 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.9 SNORA31 Louise Daugherty Added comment: Comment on list classification: New gene added for review
Primary immunodeficiency or monogenic inflammatory bowel disease v2.9 SNORA31 Louise Daugherty Gene: snora31 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.8 SLC39A7 Louise Daugherty Classified gene: SLC39A7 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.8 SLC39A7 Louise Daugherty Added comment: Comment on list classification: New gene added for review
Primary immunodeficiency or monogenic inflammatory bowel disease v2.8 SLC39A7 Louise Daugherty Gene: slc39a7 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.7 RC3H1 Louise Daugherty Classified gene: RC3H1 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.7 RC3H1 Louise Daugherty Added comment: Comment on list classification: New gene for review. Single case recommend further discussion, suggest Amber
Primary immunodeficiency or monogenic inflammatory bowel disease v2.7 RC3H1 Louise Daugherty Gene: rc3h1 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.6 PSMB10 Louise Daugherty Classified gene: PSMB10 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.6 PSMB10 Louise Daugherty Added comment: Comment on list classification: New gene for review. Single case recommend Red rating
Primary immunodeficiency or monogenic inflammatory bowel disease v2.6 PSMB10 Louise Daugherty Gene: psmb10 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.5 IL6ST Louise Daugherty Classified gene: IL6ST as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.5 IL6ST Louise Daugherty Added comment: Comment on list classification: New gene added for review
Primary immunodeficiency or monogenic inflammatory bowel disease v2.5 IL6ST Louise Daugherty Gene: il6st has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.4 IL6R Louise Daugherty Classified gene: IL6R as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.4 IL6R Louise Daugherty Added comment: Comment on list classification: New gene added for review
Primary immunodeficiency or monogenic inflammatory bowel disease v2.4 IL6R Louise Daugherty Gene: il6r has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.3 Louise Daugherty Panel version has been signed off
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 RC3H1 Louise Daugherty reviewed gene: RC3H1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 SLC39A7 Louise Daugherty reviewed gene: SLC39A7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 PSMB10 Louise Daugherty reviewed gene: PSMB10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 SNORA31 Louise Daugherty reviewed gene: SNORA31: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 IL6ST Louise Daugherty reviewed gene: IL6ST: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 IL6R Louise Daugherty reviewed gene: IL6R: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 ZNF341 Louise Daugherty reviewed gene: ZNF341: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 ZNF341 Owen Siggs gene: ZNF341 was added
gene: ZNF341 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: ZNF341 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF341 were set to 29907690; 29907691
Phenotypes for gene: ZNF341 were set to Hyper-IgE syndrome
Review for gene: ZNF341 was set to GREEN
Added comment: Ten unrelated families with nonsense or frameshift variants.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 IL6R Owen Siggs gene: IL6R was added
gene: IL6R was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: IL6R was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL6R were set to 31235509
Phenotypes for gene: IL6R were set to Recurrent infections; Hyper-IgE; Eczema
Review for gene: IL6R was set to GREEN
Added comment: Two unrelated cases with homozygous variants (frameshift or missense) and compelling functional evidence.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 IL6ST Owen Siggs reviewed gene: IL6ST: Rating: GREEN; Mode of pathogenicity: None; Publications: 28747427, 30309848; Phenotypes: Hyper-IgE syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 IL6ST Owen Siggs Deleted their review
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 IL6ST Owen Siggs gene: IL6ST was added
gene: IL6ST was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: IL6ST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL6ST were set to 31235509
Phenotypes for gene: IL6ST were set to Recurrent infections; Abnormal acute-phase responses; Elevated IgE; Eczema; Eosinophilia
Review for gene: IL6ST was set to GREEN
Added comment: Two unrelated cases with homozygous variants (nonsense or missense), with functional evidence of causation.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 SNORA31 Owen Siggs gene: SNORA31 was added
gene: SNORA31 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: SNORA31 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SNORA31 were set to 31806906
Phenotypes for gene: SNORA31 were set to Herpes simplex encephalitis
Review for gene: SNORA31 was set to GREEN
Added comment: Five unrelated families, four heterozygous variants in small nucleolar RNA gene.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 PSMB10 Owen Siggs gene: PSMB10 was added
gene: PSMB10 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: PSMB10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMB10 were set to 31783057
Phenotypes for gene: PSMB10 were set to Proteasome-associated autoinflammatory syndrome
Review for gene: PSMB10 was set to AMBER
Added comment: Single case, homozygous missense variant, good functional experimental support.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 SLC39A7 Owen Siggs gene: SLC39A7 was added
gene: SLC39A7 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: SLC39A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A7 were set to 30718914
Phenotypes for gene: SLC39A7 were set to Agammaglobulinemia; B cell deficiency
Review for gene: SLC39A7 was set to GREEN
Added comment: Six individuals from five families with biallelic missense +/- nonsense variants, phenocopied by mouse models.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 RC3H1 Owen Siggs gene: RC3H1 was added
gene: RC3H1 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: RC3H1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RC3H1 were set to PMID: 31636267
Phenotypes for gene: RC3H1 were set to Hemophagocytic lymphohistiocytosis
Penetrance for gene: RC3H1 were set to unknown
Added comment: Single case, homozygous nonsense in consanguineous kindred, clinical phenotype resembling HLH (PMID: 31636267). Convincing functional evidence of causation with phenotypic similarities to mouse model. Promote to Green List once second unrelated case identified.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 CDCA7 Louise Daugherty Tag watchlist was removed from gene: CDCA7.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 CDCA7 Louise Daugherty commented on gene: CDCA7: As a result of watchlist tag audit the watchlist tag was removed from CDCA7- this is now a green gene with sufficient evidence/review
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 Louise Daugherty promoted panel to version 2.0
Primary immunodeficiency or monogenic inflammatory bowel disease v1.138 Louise Daugherty Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS signed-off
Primary immunodeficiency or monogenic inflammatory bowel disease v1.137 USP18 Louise Daugherty commented on gene: USP18: Gene was flagged as requiring further clinical input from the Immunology Test Group, but no additional information was submitted to support the Green rating. In view of a lack of clear evidence the current recommendation is Amber.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.137 PSMB9 Louise Daugherty commented on gene: PSMB9: Gene was flagged as requiring further clinical input from the Immunology Test Group, but no additional information was submitted to support the Green rating. In view of a lack of clear evidence the current recommendation is Amber.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.137 PSMB4 Louise Daugherty commented on gene: PSMB4: Gene was flagged as requiring further clinical input from the Immunology Test Group, but no additional information was submitted to support the Green rating. In view of a lack of clear evidence the current recommendation is Amber.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.137 PSMA3 Louise Daugherty commented on gene: PSMA3: Gene was flagged as requiring further clinical input from the Immunology Test Group, but no additional information was submitted to support the Green rating. In view of a lack of clear evidence the current recommendation is Amber.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.137 NRAS Louise Daugherty commented on gene: NRAS: Gene was flagged as requiring further clinical input from the Immunology Test Group, but no additional information was submitted to support the Green rating. In view of a lack of clear evidence the current recommendation is Amber.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.137 NLRP1 Louise Daugherty commented on gene: NLRP1: Gene was flagged as requiring further clinical input from the Immunology Test Group, but no additional information was submitted to support the Green rating. In view of a lack of clear evidence the current recommendation is Amber.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.137 CFB Louise Daugherty commented on gene: CFB: Gene was flagged as requiring further clinical input from the Immunology Test Group, but no additional information was submitted to support the Green rating. In view of a lack of clear evidence the current recommendation is Amber.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.137 CSF2RA Louise Daugherty Added comment: Comment on mode of inheritance: Changed MOI due to MOI checks carried out by PanelApp team. This gene is on the pseudoautosomal region of chromosome X which is shared with chromoseome Y, so MOI affected cases are biallelic.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.137 CSF2RA Louise Daugherty Mode of inheritance for gene: CSF2RA was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v1.136 RASGRP1 Louise Daugherty Phenotypes for gene: RASGRP1 were changed from Recurrent pneumonia, herpesvirus infections, EBV associated lymphoma; Diseases of Immune Dysregulation; EBV-induced lymphoma; Immunodeficiency; Immunodeficiency 64, 618534 to Recurrent pneumonia, herpesvirus infections, EBV associated lymphoma; Diseases of Immune Dysregulation; EBV-induced lymphoma; Immunodeficiency; Immunodeficiency 64, 618534; Immunodeficiency; immunde dysregulation; EBV-induced lymphoma
Primary immunodeficiency or monogenic inflammatory bowel disease v1.135 POMP Louise Daugherty Phenotypes for gene: POMP were changed from CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome); Proteasome-associated autoinflammatory syndrome 2, 618048 to CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome); Proteasome-associated autoinflammatory syndrome 2, 618048; combined immunodeficiency with autoinflammation
Primary immunodeficiency or monogenic inflammatory bowel disease v1.134 POMP Louise Daugherty Publications for gene: POMP were set to 26524591
Primary immunodeficiency or monogenic inflammatory bowel disease v1.133 POMP Louise Daugherty Mode of inheritance for gene: POMP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 TNFRSF11A Sophie Hambleton commented on gene: TNFRSF11A
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 SAMD9L Sophie Hambleton commented on gene: SAMD9L
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 PTEN Sophie Hambleton reviewed gene: PTEN: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 MBL2 Sophie Hambleton reviewed gene: MBL2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 LYZ Sophie Hambleton reviewed gene: LYZ: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 SPPL2A Sophie Hambleton reviewed gene: SPPL2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 RIPK1 Sophie Hambleton reviewed gene: RIPK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30026316; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 POMP Sophie Hambleton reviewed gene: POMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 29805043; Phenotypes: combined immunodeficiency with autoinflammation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 RASGRP1 Sophie Hambleton reviewed gene: RASGRP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 WDR1 Sophie Hambleton reviewed gene: WDR1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 USP18 Sophie Hambleton reviewed gene: USP18: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 ORAI1 Sophie Hambleton edited their review of gene: ORAI1: Added comment: As stated below, there is good evidence that AR mutations in this gene cause immunodeficiency; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 ISCA-37433-Loss Sophie Hambleton reviewed Region: ISCA-37433-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 ISCA-37446-Loss Sophie Hambleton reviewed Region: ISCA-37446-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 CSF3R Sophie Hambleton commented on gene: CSF3R: Agree there is good evidence that biallelic variation in this gene causes SCN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 PIK3CD Ilenia Simeoni reviewed gene: PIK3CD: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29226301; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 STAT4 Louise Daugherty changed review comment from: New gene added after review of potential new genes for PID by the Immunology Test Group. This gene was noted as being only theoretical for PID so was rated as Red by the group.; to: Potential risk allele for SLE. New gene added after review of potential new genes for PID by the Immunology Test Group. This gene was noted as being only theoretical for PID so was rated as Red by the group.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 STAT4 Louise Daugherty reviewed gene: STAT4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 SAMD3 Louise Daugherty reviewed gene: SAMD3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 PTPN22 Louise Daugherty reviewed gene: PTPN22: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 POMP Louise Daugherty reviewed gene: POMP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 IL31RA Louise Daugherty changed review comment from: Not clearly a primary immunodeficiency. New gene added after review of potential new genes for PID by the Immunology Test Group. This gene was noted as being only theoretical for PID.; to: Not clearly a primary immunodeficiency. New gene added after review of potential new genes for PID by the Immunology Test Group. This gene was noted as being only theoretical for PID so was rated as Red by the group.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 LYZ Louise Daugherty reviewed gene: LYZ: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 IL31RA Louise Daugherty changed review comment from: New gene added after review of potential new genes for PID by the Immunology Test Group. This gene was noted as being only theoretical for PID.; to: Not clearly a primary immunodeficiency. New gene added after review of potential new genes for PID by the Immunology Test Group. This gene was noted as being only theoretical for PID.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 IL31RA Louise Daugherty changed review comment from: New gene added after review of potential new genes for PID by the Immunology Test Group. This gene was noted as being only theoretical for PID.; to: New gene added after review of potential new genes for PID by the Immunology Test Group. This gene was noted as being only theoretical for PID.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 IL31RA Louise Daugherty commented on gene: IL31RA
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 STAT4 Louise Daugherty Source London North GLH was added to STAT4.
Source Expert Review Red was added to STAT4.
Source NHS GMS was added to STAT4.
Rating Changed from No List (delete) to Red List (low evidence)
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 WDR1 Louise Daugherty commented on gene: WDR1: Autoinflammatory periodic fever, immunodeficiency and thrombocytopaenia - sibling pair and mouse model - ?sufficient for green
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 TNFRSF11A Louise Daugherty commented on gene: TNFRSF11A: Osteopetrosis (AR) - green association, reported to have hypogammaglobulinaemia - presume a feasible presentation in immunology?
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 SH3BP2 Louise Daugherty commented on gene: SH3BP2: Cherubism - green association, but is there an immunological phenotype?
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 SAMD9L Louise Daugherty commented on gene: SAMD9L: Ataxia pancytopaenia syndrome - 2 unrelated families, no functional work - amber association, is there an immunological phenotype?
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 RET Louise Daugherty commented on gene: RET: MEN2 / MTC - ?relevant phenotype / Hirschsprung in LOF
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 RANBP2 Louise Daugherty commented on gene: RANBP2: Encephalopathy acute, infection induced susceptibility to, 3: 10 families, variable susceptibility to encephalopathy with infections - discuss penetrance and although there is an absence of primary immune dysfunction, whether this is a phenocopy like presentation? - Would a result be clinically useful?
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 PTEN Louise Daugherty commented on gene: PTEN: Cowden (macrocephaly, variable GDD, skin features, malignancy risk) - some patients reported to have primary immunodef / hypogammaglob. / lymphopaenia / T&B cell abn. / susceptibility to infections). Green association - relevant phenotype?
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 PSMB9 Louise Daugherty commented on gene: PSMB9: ?Proteasome-associated autoinflammatory syndrome 3, digenic. One patient, one similar patient het for this and another gene (PSMB4) hence ?digenic - amber on association
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 PSMB4 Louise Daugherty commented on gene: PSMB4: ?Proteasome-associated autoinflammatory syndrome 3, digenic. One patient het for this and another gene (PSMB9) hence ?digenic - amber on association
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 PSMA3 Louise Daugherty commented on gene: PSMA3: ?Proteasome-associated autoinflammatory syndrome 1, digenic. Two unrelated children het
for this and another gene (PSMB8) hence ?digenic - amber on association
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 NRAS Louise Daugherty commented on gene: NRAS: Noonan (plus malignancies in somatic variants): ?relevant phenotype
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 NLRP1 Louise Daugherty commented on gene: NLRP1: Autoinflammation - two cases, ?AD / AR – unclear
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 MBL2 Louise Daugherty commented on gene: MBL2: Chronic infections due to MBL deficiency: 5% Europeans, 10% sub-saharan Africans, mostly unaffected. Increased risk of infections - is it useful clinically or if undergoing immunosuppression? Is it tested for clinically at present
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 MASP2 Louise Daugherty changed review comment from: Chronic infections due to MBL deficiency: 5% Europeans, 10% sub-saharan Africans, mostly unaffected. Increased risk of infections - is it useful clinically or if undergoing immunosuppression? Is it tested for clinically at present?; to: MASP2 deficiency: 4% caucasians, up to 18% of African populations - mostly asymptomatic. Is this a risk factor - is it useful in clinical practice? I don't know if this is a recurrent variant - may be too common?
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 MASP2 Louise Daugherty commented on gene: MASP2: Chronic infections due to MBL deficiency: 5% Europeans, 10% sub-saharan Africans, mostly unaffected. Increased risk of infections - is it useful clinically or if undergoing immunosuppression? Is it tested for clinically at present?
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 HPS4 Louise Daugherty commented on gene: HPS4: Hermansky-Pudlak - OCA, bleeding, lysosomal ceroid storage: green association, phenotype
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 HPS6 Louise Daugherty commented on gene: HPS6: Hermansky-Pudlak - OCA, bleeding, lysosomal ceroid storage: green association, phenotype
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 HPS1 Louise Daugherty commented on gene: HPS1: Hermansky-Pudlak - OCA, bleeding, lysosomal ceroid storage: green association, phenotype
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 GUCY2C Louise Daugherty commented on gene: GUCY2C: AD: diarrhoea 6, relatively mild with potential IBD association one family ?GOF, vs AR: meconium ileus, one family. ?Phenotypic relevance and also amber on association
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 GTF2H5 Louise Daugherty commented on gene: GTF2H5: Trichothiodystrophy: green association (3 unrelated cases), ?phenotype relevant: recurrent infective exacerbations of asthma
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 ERCC3 Louise Daugherty commented on gene: ERCC3: Trichothiodystrophy / XP: DNA repair - short, microcephaly, delay, ectodermal features with photosensitivity. Omim 2 sibs in a consang family Jan 17 - amber association, relevant phenotype?)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 ERCC2 Louise Daugherty commented on gene: ERCC2: Trichothiodystrophy / XP: DNA repair - short, microcephaly, delay, ectodermal features and recurrent infections - green association, probably a relevant phenotype?)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 DNASE1L3 Louise Daugherty commented on gene: DNASE1L3: SLE in Arab families (6 but consistent with founder effect)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 CTC1 Louise Daugherty commented on gene: CTC1: Cerebroretinal microangiopathy with calcifications and cysts: spasticity / dystonia / ataxia / seizures / cognitive decline (green association but ?phenotype)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 CFHR5 Louise Daugherty commented on gene: CFHR5: Glomerulonephritis with C3 deposits (green re association - ?phenotype)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 CFB Louise Daugherty commented on gene: CFB: ?Complement factor B deficiency: one family, relevant phenotype - ?amber
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 CARD14 Louise Daugherty commented on gene: CARD14: Psoriasis ?relevant phenotype (also some evidence of presence in controls - is it useful clinically?
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 BLOC1S6 Louise Daugherty commented on gene: BLOC1S6: ?Hermansky-Pudlak: one patient - amber, relevant phenotype
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 AP1S3 Louise Daugherty commented on gene: AP1S3: Pustular psoriasis susceptibility: variant seen in cases > controls. Is this a relevant phenotype / is this clinically useful?
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 ADAM17 Louise Daugherty commented on gene: ADAM17: Inflammatory skin and bowel disease neonatal: one family, moderately elevated IgE, no evidence of immunodeficiency although nail, ear, eye infections - a phenocopy? Phenotypic opinion? Amber on association
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 v1.129 BLOC1S6 Louise Daugherty All sources for gene: BLOC1S6 were removed
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 SH3BP2 Louise Daugherty commented on gene: SH3BP2: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is only enough evidence to rate this gene Red


Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is only enough evidence to rate this gene Red
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 SH3BP2 Louise Daugherty commented on gene: SH3BP2: Genes with discrepant ratings (PID 100K vs sumbmitted LNGLH submitted Immunology lists)--agreed rating in webex call 28 March 2019
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 RET Louise Daugherty commented on gene: RET: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is only enough evidence to rate this gene Red

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is only enough evidence to rate this gene Red
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 RET Louise Daugherty commented on gene: RET: Genes with discrepant ratings (PID 100K vs sumbmitted LNGLH submitted Immunology lists)--agreed rating in webex call 28 March 2019
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 RANBP2 Louise Daugherty commented on gene: RANBP2: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is only enough evidence to rate this gene Red

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is only enough evidence to rate this gene Red
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 RANBP2 Louise Daugherty commented on gene: RANBP2: Genes with discrepant ratings (PID 100K vs sumbmitted LNGLH submitted Immunology lists)--agreed rating in webex call 28 March 2019
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 MBL2 Louise Daugherty commented on gene: MBL2: relevant to 5-10% of the population and that there are three specific missense variants described. Rated Amber.
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 v1.127 MASP2 Louise Daugherty commented on gene: MASP2: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is only enough evidence to rate this gene Red
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 MASP2 Louise Daugherty commented on gene: MASP2: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is only enough evidence to rate this gene Red
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 MASP2 Louise Daugherty commented on gene: MASP2: Genes with discrepant ratings (PID 100K vs sumbmitted LNGLH submitted Immunology lists)--agreed rating in webex call 28 March 2019
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 GTF2H5 Louise Daugherty commented on gene: GTF2H5: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is only enough evidence to rate this gene Red
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 GTF2H5 Louise Daugherty commented on gene: GTF2H5: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is only enough evidence to rate this gene Red
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 GTF2H5 Louise Daugherty commented on gene: GTF2H5: Genes with discrepant ratings (PID 100K vs sumbmitted LNGLH submitted Immunology lists)--agreed rating in webex call 28 March 2019
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 ERCC3 Louise Daugherty commented on gene: ERCC3: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is only enough evidence to rate this gene Red
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 ERCC3 Louise Daugherty commented on gene: ERCC3: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is only enough evidence to rate this gene Red
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 ERCC3 Louise Daugherty commented on gene: ERCC3: Genes with discrepant ratings (PID 100K vs sumbmitted LNGLH submitted Immunology lists)--agreed rating in webex call 28 March 2019
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 ERCC2 Louise Daugherty changed review comment from: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is only enough evidence to rate this gene Red; to: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is only enough evidence to rate this gene Red


Genes with discrepant ratings (PID 100K vs sumbmitted LNGLH submitted Immunology lists)--agreed rating in webex call 28 March 2019
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 BLOC1S6 Louise Daugherty changed review comment from: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is only enough evidence to rate this gene Red; to: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is only enough evidence to rate this gene Red


Genes with discrepant ratings (PID 100K vs sumbmitted LNGLH submitted Immunology lists)--agreed rating in webex call 28 March 2019
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 ERCC2 Louise Daugherty commented on gene: ERCC2: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is only enough evidence to rate this gene Red
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 ERCC2 Louise Daugherty commented on gene: ERCC2: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is only enough evidence to rate this gene Red
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 BLOC1S6 Louise Daugherty commented on gene: BLOC1S6: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is only enough evidence to rate this gene Red
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 BLOC1S6 Louise Daugherty commented on gene: BLOC1S6: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is only enough evidence to rate this gene Red
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 USP18 Louise Daugherty changed review comment from: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. Although discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 to rate Amber in the confirmed follow up email on 20th June North West GLH reasserted that PSMA3 should be Green; to: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. Although discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 to rate Amber in the confirmed follow up email on 20th June North West GLH reasserted that USP18 should be Green
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 USP18 Louise Daugherty changed review comment from: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is only enough evidence to rate this gene Amber.; to: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. Although discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 to rate Amber in the confirmed follow up email on 20th June North West GLH reasserted that PSMA3 should be Green
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 USP18 Louise Daugherty changed review comment from: Comment on list classification: Changed rating from Red to Amber to reflect the agreed rating agreed by the GMS Immunology Specialist Test Group; to: Comment on list classification: Changed rating from Red to Amber to reflect the agreed rating agreed by the GMS Immunology Specialist Test Group, but flagged for further follow up with the Immunology Test Group due to the subsequent conflicting review. Evidence /opinion needs consensus before upgrading to Green
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 PSMB9 Louise Daugherty changed review comment from: Comment on list classification: Changed rating from Red to Amber to reflect the agreed rating agreed by the GMS Immunology Specialist Test Group; to: Comment on list classification: Changed rating from Red to Amber to reflect the agreed rating agreed by the GMS Immunology Specialist Test Group, but flagged for further follow up with the Immunology Test Group due to the subsequent conflicting review. Evidence /opinion needs consensus before upgrading to Green
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 PSMB9 Louise Daugherty changed review comment from: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. Although discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 to rate Amber in the confirmed follow up email on 20th June North West GLH reasserted that PSMA3 should be Green; to: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. Although discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 to rate Amber in the confirmed follow up email on 20th June North West GLH reasserted that PSMB9 should be Green
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 PSMB9 Louise Daugherty changed review comment from: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is only enough evidence to rate this gene Amber.; to: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. Although discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 to rate Amber in the confirmed follow up email on 20th June North West GLH reasserted that PSMA3 should be Green
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 PSMB4 Louise Daugherty changed review comment from: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is only enough evidence to rate this gene Amber.; to: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. Although discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 to rate Amber in the confirmed follow up email on 20th June North West GLH reasserted that PSMB4 should be Green
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 PSMB4 Louise Daugherty changed review comment from: Comment on list classification: Changed rating from Red to Amber to reflect the agreed rating agreed by the GMS Immunology Specialist Test Group; to: Comment on list classification: Changed rating from Red to Amber to reflect the agreed rating agreed by the GMS Immunology Specialist Test Group, but flagged for further follow up with the Immunology Test Group due to the subsequent conflicting review. Evidence /opinion needs consensus before upgrading to Green
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 PSMA3 Louise Daugherty changed review comment from: Comment on list classification: Changed rating from Red to Amber to reflect the agreed rating agreed by the GMS Immunology Specialist Test Group; to: Comment on list classification: Changed rating from Red to Amber to reflect the agreed rating agreed by the GMS Immunology Specialist Test Group, but flagged for further follow up with the Immunology Test Group due to the subsequent conflicting review. Evidence /opinion needs consensus before upgrading to Green
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 USP18 Tracy Briggs edited their review of gene: USP18: Added comment: I think USP18 should be green: five PTS patients from two unrelated families; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 PSMB9 Tracy Briggs edited their review of gene: PSMB9: Added comment: I think CANDLE should be green; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 PSMB4 Tracy Briggs edited their review of gene: PSMB4: Added comment: I think CANDLE should be green these should be covered in the testing; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 PSMA3 Tracy Briggs edited their review of gene: PSMA3: Added comment: I think CANDLE should be green; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.126 PSMA3 Louise Daugherty changed review comment from: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is only enough evidence to rate this gene Amber.; to: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. Although discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 to rate Amber in the confirmed follow up email on 20th June North West GLH reasserted that PSMA3 should be Green
Primary immunodeficiency or monogenic inflammatory bowel disease v1.126 WDR1 Louise Daugherty Classified gene: WDR1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.126 WDR1 Louise Daugherty Added comment: Comment on list classification: Changed rating from Red to Amber to reflect the agreed rating agreed by the GMS Immunology Specialist Test Group
Primary immunodeficiency or monogenic inflammatory bowel disease v1.126 WDR1 Louise Daugherty Gene: wdr1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.125 USP18 Louise Daugherty Classified gene: USP18 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.125 USP18 Louise Daugherty Added comment: Comment on list classification: Changed rating from Red to Amber to reflect the agreed rating agreed by the GMS Immunology Specialist Test Group
Primary immunodeficiency or monogenic inflammatory bowel disease v1.125 USP18 Louise Daugherty Gene: usp18 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.124 TNFRSF11A Louise Daugherty Classified gene: TNFRSF11A as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.124 TNFRSF11A Louise Daugherty Added comment: Comment on list classification: Changed rating from Red to Amber to reflect the agreed rating agreed by the GMS Immunology Specialist Test Group
Primary immunodeficiency or monogenic inflammatory bowel disease v1.124 TNFRSF11A Louise Daugherty Gene: tnfrsf11a has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.123 SAMD9L Louise Daugherty Classified gene: SAMD9L as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.123 SAMD9L Louise Daugherty Added comment: Comment on list classification: Changed rating from Red to Amber to reflect the agreed rating agreed by the GMS Immunology Specialist Test Group
Primary immunodeficiency or monogenic inflammatory bowel disease v1.123 SAMD9L Louise Daugherty Gene: samd9l has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.122 PSMB9 Louise Daugherty Classified gene: PSMB9 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.122 PSMB9 Louise Daugherty Added comment: Comment on list classification: Changed rating from Red to Amber to reflect the agreed rating agreed by the GMS Immunology Specialist Test Group
Primary immunodeficiency or monogenic inflammatory bowel disease v1.122 PSMB9 Louise Daugherty Gene: psmb9 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.121 PSMB4 Louise Daugherty Classified gene: PSMB4 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.121 PSMB4 Louise Daugherty Added comment: Comment on list classification: Changed rating from Red to Amber to reflect the agreed rating agreed by the GMS Immunology Specialist Test Group
Primary immunodeficiency or monogenic inflammatory bowel disease v1.121 PSMB4 Louise Daugherty Gene: psmb4 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.120 SH3BP2 Louise Daugherty commented on gene: SH3BP2: OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): SH3BP2 .PanelApp HGNC gene symbol check: SH3BP2 . IUIS Disease: Cherubism . IUIS Inheritance: AD .T cells: Variable, .B cells: N/A, .IUIS Other affected cells: Stroma cells, bone cells. IUIS Associated features: Bone degeneration in jaws. IUIS Major category: Autoinflammatory Disorders. IUIS Subcategory: Non-Inflammasome Related Conditions
Primary immunodeficiency or monogenic inflammatory bowel disease v1.120 SH3BP2 Louise Daugherty commented on gene: SH3BP2: Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: SH3BP2 GRID_Gene_Symbol: SH3BP2 GRID_Transcript_ENS_Community submitted: ENST00000503393 GRID_Transcript_RefSeq: NM_001122681.1 GRID_Transcript_ENS_used_on_Production: ENST00000503393
Primary immunodeficiency or monogenic inflammatory bowel disease v1.120 MBL2 Louise Daugherty commented on gene: MBL2: Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: MBL2 GRID_Gene_Symbol: MBL2 GRID_Transcript_ENS_Community submitted: ENST00000373968 GRID_Transcript_RefSeq: NM_000242.2 GRID_Transcript_ENS_used_on_Production: ENST00000373968
Primary immunodeficiency or monogenic inflammatory bowel disease v1.120 SH3BP2 Louise Daugherty commented on gene: SH3BP2
Primary immunodeficiency or monogenic inflammatory bowel disease v1.120 MBL2 Louise Daugherty edited their review of gene: MBL2: Changed rating: AMBER
Primary immunodeficiency or monogenic inflammatory bowel disease v1.120 MBL2 Louise Daugherty commented on gene: MBL2: Original metadata downloaded from ESID Registry. ESID_Gene_original: MBL, PanelApp HGNC gene symbol check: MBL2, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Complement deficiencies / Mannose-binding lectin (MBL) / Mannose-binding lectin deficiency (MBL)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.120 PSMA3 Louise Daugherty Classified gene: PSMA3 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.120 PSMA3 Louise Daugherty Added comment: Comment on list classification: Changed rating from Red to Amber to reflect the agreed rating agreed by the GMS Immunology Specialist Test Group
Primary immunodeficiency or monogenic inflammatory bowel disease v1.120 PSMA3 Louise Daugherty Gene: psma3 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.119 GUCY2C Louise Daugherty Classified gene: GUCY2C as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.119 GUCY2C Louise Daugherty Added comment: Comment on list classification: Changed rating from Red to Amber to reflect the agreed rating agreed by the GMS Immunology Specialist Test Group
Primary immunodeficiency or monogenic inflammatory bowel disease v1.119 GUCY2C Louise Daugherty Gene: gucy2c has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.118 GUCY2C Louise Daugherty Phenotypes for gene: GUCY2C were changed from Diarrhea 6, 614616; meconium ileus to Diarrhea 6, 614616; meconium ileus, 614665
Primary immunodeficiency or monogenic inflammatory bowel disease v1.117 CTC1 Louise Daugherty Classified gene: CTC1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.117 CTC1 Louise Daugherty Added comment: Comment on list classification: Changed rating from Red to Amber to reflect the agreed rating agreed by the GMS Immunology Specialist Test Group
Primary immunodeficiency or monogenic inflammatory bowel disease v1.117 CTC1 Louise Daugherty Gene: ctc1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.116 WDR1 Louise Daugherty commented on gene: WDR1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is only enough evidence to rate this gene Amber.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.116 USP18 Louise Daugherty commented on gene: USP18: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is only enough evidence to rate this gene Amber.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.116 TNFRSF11A Louise Daugherty commented on gene: TNFRSF11A: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is only enough evidence to rate this gene Amber.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.116 SAMD9L Louise Daugherty commented on gene: SAMD9L: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is only enough evidence to rate this gene Amber.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.116 PTEN Louise Daugherty commented on gene: PTEN: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is only enough evidence to rate this gene Amber.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.116 PSMB9 Louise Daugherty commented on gene: PSMB9: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is only enough evidence to rate this gene Amber.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.116 PSMB4 Louise Daugherty commented on gene: PSMB4: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is only enough evidence to rate this gene Amber.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.116 PSMA3 Louise Daugherty commented on gene: PSMA3: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is only enough evidence to rate this gene Amber.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.116 GUCY2C Louise Daugherty commented on gene: GUCY2C: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is only enough evidence to rate this gene Amber.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.116 DNASE1L3 Louise Daugherty commented on gene: DNASE1L3: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is only enough evidence to rate this gene Amber.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.116 CTC1 Louise Daugherty commented on gene: CTC1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is only enough evidence to rate this gene Amber.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.116 CFHR5 Louise Daugherty commented on gene: CFHR5: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is only enough evidence to rate this gene Amber.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.116 AP1S3 Louise Daugherty commented on gene: AP1S3: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is only enough evidence to rate this gene Amber.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.116 ADAM17 Louise Daugherty commented on gene: ADAM17: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is only enough evidence to rate this gene Amber.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.116 WDR1 Louise Daugherty edited their review of gene: WDR1: Added comment: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is only enough evidence to rate this gene Amber; Changed rating: AMBER
Primary immunodeficiency or monogenic inflammatory bowel disease v1.116 USP18 Louise Daugherty edited their review of gene: USP18: Added comment: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is only enough evidence to rate this gene Amber; Changed rating: AMBER
Primary immunodeficiency or monogenic inflammatory bowel disease v1.116 TNFRSF11A Louise Daugherty edited their review of gene: TNFRSF11A: Added comment: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is only enough evidence to rate this gene Amber; Changed rating: AMBER
Primary immunodeficiency or monogenic inflammatory bowel disease v1.116 SAMD9L Louise Daugherty edited their review of gene: SAMD9L: Added comment: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is only enough evidence to rate this gene Amber; Changed rating: AMBER
Primary immunodeficiency or monogenic inflammatory bowel disease v1.116 PTEN Louise Daugherty edited their review of gene: PTEN: Added comment: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is only enough evidence to rate this gene Amber; Changed rating: AMBER
Primary immunodeficiency or monogenic inflammatory bowel disease v1.116 PSMB9 Louise Daugherty edited their review of gene: PSMB9: Added comment: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is only enough evidence to rate this gene Amber; Changed rating: AMBER
Primary immunodeficiency or monogenic inflammatory bowel disease v1.116 PSMB4 Louise Daugherty edited their review of gene: PSMB4: Added comment: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is only enough evidence to rate this gene Amber; Changed rating: AMBER
Primary immunodeficiency or monogenic inflammatory bowel disease v1.116 PSMA3 Louise Daugherty edited their review of gene: PSMA3: Added comment: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is only enough evidence to rate this gene Amber; Changed rating: AMBER
Primary immunodeficiency or monogenic inflammatory bowel disease v1.116 GUCY2C Louise Daugherty edited their review of gene: GUCY2C: Added comment: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is only enough evidence to rate this gene Amber; Changed rating: AMBER
Primary immunodeficiency or monogenic inflammatory bowel disease v1.116 DNASE1L3 Louise Daugherty edited their review of gene: DNASE1L3: Added comment: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is only enough evidence to rate this gene Amber; Changed rating: AMBER
Primary immunodeficiency or monogenic inflammatory bowel disease v1.116 CTC1 Louise Daugherty edited their review of gene: CTC1: Added comment: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is only enough evidence to rate this gene Amber; Changed rating: AMBER
Primary immunodeficiency or monogenic inflammatory bowel disease v1.116 CFHR5 Louise Daugherty commented on gene: CFHR5: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is only enough evidence to rate this gene Amber
Primary immunodeficiency or monogenic inflammatory bowel disease v1.116 AP1S3 Louise Daugherty commented on gene: AP1S3: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is only enough evidence to rate this gene Amber
Primary immunodeficiency or monogenic inflammatory bowel disease v1.116 ADAM17 Louise Daugherty commented on gene: ADAM17: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is only enough evidence to rate this gene Amber
Primary immunodeficiency or monogenic inflammatory bowel disease v1.115 WDR1 Kimberly Gilmour reviewed gene: WDR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.115 USP18 Kimberly Gilmour reviewed gene: USP18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.115 TNFRSF11A Kimberly Gilmour reviewed gene: TNFRSF11A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.115 SAMD9L Kimberly Gilmour reviewed gene: SAMD9L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.115 PTEN Kimberly Gilmour reviewed gene: PTEN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.115 PSMB9 Kimberly Gilmour reviewed gene: PSMB9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.115 PSMB4 Kimberly Gilmour reviewed gene: PSMB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.115 PSMA3 Kimberly Gilmour reviewed gene: PSMA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.115 GUCY2C Kimberly Gilmour reviewed gene: GUCY2C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.115 DNASE1L3 Kimberly Gilmour reviewed gene: DNASE1L3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.115 CTC1 Kimberly Gilmour reviewed gene: CTC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.115 CFHR5 Kimberly Gilmour reviewed gene: CFHR5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.115 AP1S3 Kimberly Gilmour reviewed gene: AP1S3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.115 ADAM17 Kimberly Gilmour reviewed gene: ADAM17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.114 WDR1 Tracy Briggs reviewed gene: WDR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.114 USP18 Tracy Briggs reviewed gene: USP18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.114 TNFRSF11A Tracy Briggs reviewed gene: TNFRSF11A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.114 SAMD9L Tracy Briggs reviewed gene: SAMD9L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.114 PTEN Tracy Briggs reviewed gene: PTEN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.114 PSMB9 Tracy Briggs reviewed gene: PSMB9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.114 PSMB4 Tracy Briggs reviewed gene: PSMB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.114 PSMA3 Tracy Briggs reviewed gene: PSMA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.114 GUCY2C Tracy Briggs reviewed gene: GUCY2C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.114 DNASE1L3 Tracy Briggs reviewed gene: DNASE1L3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.114 CTC1 Tracy Briggs reviewed gene: CTC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.114 CFHR5 Tracy Briggs reviewed gene: CFHR5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.114 AP1S3 Tracy Briggs reviewed gene: AP1S3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.114 ADAM17 Tracy Briggs reviewed gene: ADAM17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.113 Ellen McDonagh Panel status changed from internal to public
Primary immunodeficiency or monogenic inflammatory bowel disease v1.112 ERCC2 Ellen McDonagh Publications for gene: ERCC2 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.111 BLOC1S6 Ellen McDonagh Publications for gene: BLOC1S6 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.109 ERCC2 Louise Daugherty Deleted their review
Primary immunodeficiency or monogenic inflammatory bowel disease v1.109 ERCC2 Louise Daugherty Deleted their comment
Primary immunodeficiency or monogenic inflammatory bowel disease v1.109 MASP2 Louise Daugherty Deleted their review
Primary immunodeficiency or monogenic inflammatory bowel disease v1.109 ERCC3 Louise Daugherty Deleted their review
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 v1.108 BLOC1S6 Louise Daugherty Deleted their review
Primary immunodeficiency or monogenic inflammatory bowel disease v1.108 Louise Daugherty removed gene:ERCC2 from the panel
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 v1.106 Ellen McDonagh Panel status changed from public to internal
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
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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 v1.102 Louise Daugherty removed gene:BLOC1S6 from the panel
Primary immunodeficiency or monogenic inflammatory bowel disease v1.101 NLRP1 Louise Daugherty changed review comment from: Comment on list classification: Upgraded from Red to Amber. This is a relevant phenotype but there is not enough evidence in the literature to date (only two cases) and there has been no further evidence in terms of unpublished cases other than a Green rating recommendation from the Immunology Specialist Test Group. To remain Amber unless further supporting evidence from the Test Group.; to: Comment on list classification: Upgraded from Red to Amber. This is a relevant phenotype but there is not enough evidence in the literature to date (only two reported cases) and there has been no further evidence in terms of unpublished cases other than a Green rating recommendation from the Immunology Specialist Test Group. To remain Amber unless further supporting evidence from the Test Group.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.101 NRAS Louise Daugherty commented on gene: NRAS: This is a relevant phenotype but there is not enough evidence in the literature to date (PMID: 17517660 seems to report one person with NRAS and this phenotype) and there has been no further evidence in terms of unpublished cases other than a Green rating recommendation from the Immunology Specialist Test Group. To remain Amber unless further supporting evidence from the Test Group.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.101 NRAS Louise Daugherty edited their review of gene: NRAS: Changed rating: AMBER
Primary immunodeficiency or monogenic inflammatory bowel disease v1.101 NLRP1 Louise Daugherty changed review comment from: Comment on list classification: This is a relevant phenotype but there is not enough evidence in the literature to date (only two cases) and there has been no further evidence in terms of unpublished cases other than a Green rating recommendation from the Immunology Specialist Test Group. To remain Amber unless further supporting evidence from the Test Group.; to: Comment on list classification: Upgraded from Red to Amber. This is a relevant phenotype but there is not enough evidence in the literature to date (only two cases) and there has been no further evidence in terms of unpublished cases other than a Green rating recommendation from the Immunology Specialist Test Group. To remain Amber unless further supporting evidence from the Test Group.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.101 NLRP1 Louise Daugherty Classified gene: NLRP1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.101 NLRP1 Louise Daugherty Added comment: Comment on list classification: This is a relevant phenotype but there is not enough evidence in the literature to date (only two cases) and there has been no further evidence in terms of unpublished cases other than a Green rating recommendation from the Immunology Specialist Test Group. To remain Amber unless further supporting evidence from the Test Group.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.101 NLRP1 Louise Daugherty Gene: nlrp1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.100 HPS6 Louise Daugherty Phenotypes for gene: HPS6 were changed from Hermansky-Pudlak syndrome 6 to Hermansky-Pudlak syndrome 6, 614075
Primary immunodeficiency or monogenic inflammatory bowel disease v1.99 NLRP1 Louise Daugherty edited their review of gene: NLRP1: Changed rating: AMBER
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 Classified gene: HPS6 as Green List (high evidence)
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 v1.99 HPS6 Louise Daugherty Gene: hps6 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.98 HPS6 Louise Daugherty edited their review of gene: HPS6: Changed rating: AMBER
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 Classified gene: HPS4 as Green List (high evidence)
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 v1.98 HPS4 Louise Daugherty Gene: hps4 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.97 HPS4 Louise Daugherty edited their review of gene: HPS4: Changed rating: AMBER
Primary immunodeficiency or monogenic inflammatory bowel disease v1.97 HPS4 Louise Daugherty Phenotypes for gene: HPS4 were changed from Hermansky-Pudlak syndrome 4 to Hermansky-Pudlak syndrome 4, 614073
Primary immunodeficiency or monogenic inflammatory bowel disease v1.96 HPS1 Louise Daugherty Classified gene: HPS1 as Green List (high evidence)
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 v1.96 HPS1 Louise Daugherty Gene: hps1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.95 HPS1 Louise Daugherty edited their review of gene: HPS1: Changed rating: AMBER
Primary immunodeficiency or monogenic inflammatory bowel disease v1.95 CFB Louise Daugherty commented on gene: CFB: This is a relevant phenotype but there is not enough evidence in the literature to date (one case) and there has been no further evidence in terms of unpublished cases other than a Green rating recommendation from the Immunology Specialist Test Group. To remain Amber unless further supporting evidence from the Test Group
Primary immunodeficiency or monogenic inflammatory bowel disease v1.95 CFB Louise Daugherty edited their review of gene: CFB: Changed rating: AMBER
Primary immunodeficiency or monogenic inflammatory bowel disease v1.95 CARD14 Louise Daugherty Classified gene: CARD14 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.95 CARD14 Louise Daugherty Added comment: Comment on list classification: Changed rating from Amber to Green. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and 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 v1.95 CARD14 Louise Daugherty Gene: card14 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ZBTB24 Louise Daugherty commented on gene: ZBTB24: 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 ZAP70 Louise Daugherty commented on gene: ZAP70: 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 XIAP Louise Daugherty commented on gene: XIAP: 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 WIPF1 Louise Daugherty commented on gene: WIPF1: 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 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 VPS45 Louise Daugherty commented on gene: VPS45: 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 VPS13B Louise Daugherty commented on gene: VPS13B: 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 USB1 Louise Daugherty commented on gene: USB1: 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 UNG Louise Daugherty commented on gene: UNG: 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 UNC93B1 Louise Daugherty commented on gene: UNC93B1: 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 UNC13D Louise Daugherty commented on gene: UNC13D: 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 TYK2 Louise Daugherty commented on gene: TYK2: 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 TTC7A Louise Daugherty commented on gene: TTC7A: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TTC37 Louise Daugherty commented on gene: TTC37: Gene rating submitted by 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 TRNT1 Louise Daugherty commented on gene: TRNT1: 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 TREX1 Louise Daugherty commented on gene: TREX1: 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 TRAC Louise Daugherty commented on gene: TRAC: 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 TPP2 Louise Daugherty commented on gene: TPP2: 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 TNFRSF1A Louise Daugherty commented on gene: TNFRSF1A: 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 TNFAIP3 Louise Daugherty commented on gene: TNFAIP3: 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 TMEM173 Louise Daugherty commented on gene: TMEM173: 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 TMC8 Louise Daugherty commented on gene: TMC8: 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 TMC6 Louise Daugherty commented on gene: TMC6: 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 TLR3 Louise Daugherty commented on gene: TLR3: 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 TICAM1 Louise Daugherty commented on gene: TICAM1: 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 TCN2 Louise Daugherty commented on gene: TCN2: 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 TCF3 Louise Daugherty commented on gene: TCF3: 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 TBK1 Louise Daugherty commented on gene: TBK1: 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 TAZ Louise Daugherty commented on gene: TAZ: 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 TAP2 Louise Daugherty commented on gene: TAP2: 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 TAP1 Louise Daugherty commented on gene: TAP1: 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 STXBP2 Louise Daugherty commented on gene: STXBP2: 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 STX11 Louise Daugherty commented on gene: STX11: 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 STK4 Louise Daugherty commented on gene: STK4: 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 STIM1 Louise Daugherty commented on gene: STIM1: 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 STAT5B Louise Daugherty commented on gene: STAT5B: 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 STAT3 Louise Daugherty commented on gene: STAT3: 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 STAT2 Louise Daugherty commented on gene: STAT2: 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 STAT1 Louise Daugherty commented on gene: STAT1: 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 SPPL2A Louise Daugherty commented on gene: SPPL2A: 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 SPINK5 Louise Daugherty commented on gene: SPINK5: 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 SP110 Louise Daugherty commented on gene: SP110: 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 SMARCAL1 Louise Daugherty commented on gene: SMARCAL1: 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 SLC46A1 Louise Daugherty commented on gene: SLC46A1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SLC37A4 Louise Daugherty commented on gene: SLC37A4: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SLC35C1 Louise Daugherty commented on gene: SLC35C1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SLC29A3 Louise Daugherty commented on gene: SLC29A3: 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 SKIV2L Louise Daugherty commented on gene: SKIV2L: 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 SH2D1A Louise Daugherty commented on gene: SH2D1A: 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 SGPL1 Louise Daugherty commented on gene: SGPL1: 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 SERPING1 Louise Daugherty commented on gene: SERPING1: 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 SBDS Louise Daugherty commented on gene: SBDS: 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 SAMHD1 Louise Daugherty commented on gene: SAMHD1: 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 RTEL1 Louise Daugherty commented on gene: RTEL1: 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 RPSA Louise Daugherty commented on gene: RPSA: 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 RORC Louise Daugherty commented on gene: RORC: 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 RNF168 Louise Daugherty commented on gene: RNF168: 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 RNASEH2C Louise Daugherty commented on gene: RNASEH2C: 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 RNASEH2B Louise Daugherty commented on gene: RNASEH2B: 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 RNASEH2A Louise Daugherty commented on gene: RNASEH2A: 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 RMRP Louise Daugherty commented on gene: RMRP: 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 RIPK1 Louise Daugherty commented on gene: RIPK1: 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 RFXAP Louise Daugherty commented on gene: RFXAP: 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 RFXANK Louise Daugherty commented on gene: RFXANK: 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 RFX5 Louise Daugherty commented on gene: RFX5: 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 RBCK1 Louise Daugherty commented on gene: RBCK1: 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 RASGRP1 Louise Daugherty commented on gene: RASGRP1: 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 RAG2 Louise Daugherty commented on gene: RAG2: 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 RAG1 Louise Daugherty commented on gene: RAG1: 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 RAB27A Louise Daugherty commented on gene: RAB27A: 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 PTPRC Louise Daugherty commented on gene: PTPRC: 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 PSTPIP1 Louise Daugherty commented on gene: PSTPIP1: 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 PSMB8 Louise Daugherty commented on gene: PSMB8: 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 PRKDC Louise Daugherty commented on gene: PRKDC: 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 PRKCD Louise Daugherty commented on gene: PRKCD: 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 PRF1 Louise Daugherty commented on gene: PRF1: 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 POLA1 Louise Daugherty commented on gene: POLA1: 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 PNP Louise Daugherty commented on gene: PNP: 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 PLCG2 Louise Daugherty commented on gene: PLCG2: 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 PIK3R1 Louise Daugherty commented on gene: PIK3R1: 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 PIK3CD Louise Daugherty commented on gene: PIK3CD: 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 PGM3 Louise Daugherty commented on gene: PGM3: 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 PEPD Louise Daugherty commented on gene: PEPD: 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 PARN Louise Daugherty commented on gene: PARN: 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 OTULIN Louise Daugherty commented on gene: OTULIN: 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 ORAI1 Louise Daugherty commented on gene: ORAI1: 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 NSMCE3 Louise Daugherty commented on gene: NSMCE3: 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 NRAS Louise Daugherty commented on gene: NRAS: 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 NOD2 Louise Daugherty commented on gene: NOD2: 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 NLRP3 Louise Daugherty commented on gene: NLRP3: 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 NLRP12 Louise Daugherty commented on gene: NLRP12: 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 NLRP1 Louise Daugherty commented on gene: NLRP1: 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 NLRC4 Louise Daugherty commented on gene: NLRC4: 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 NHP2 Louise Daugherty commented on gene: NHP2: 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 NHEJ1 Louise Daugherty commented on gene: NHEJ1: 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 NFKBIA Louise Daugherty commented on gene: NFKBIA: 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 NFKB2 Louise Daugherty commented on gene: NFKB2: 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 NFKB1 Louise Daugherty commented on gene: NFKB1: 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 NCF4 Louise Daugherty commented on gene: NCF4: 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 NCF2 Louise Daugherty commented on gene: NCF2: 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 NCF1 Louise Daugherty commented on gene: NCF1: 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 NBN Louise Daugherty commented on gene: NBN: 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 MYSM1 Louise Daugherty commented on gene: MYSM1: 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 MYO5B Louise Daugherty commented on gene: MYO5B: 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 MYD88 Louise Daugherty commented on gene: MYD88: 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 MVK Louise Daugherty commented on gene: MVK: 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 MTHFD1 Louise Daugherty commented on gene: MTHFD1: 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 MSN Louise Daugherty commented on gene: MSN: 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 MOGS Louise Daugherty commented on gene: MOGS: 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 MEFV Louise Daugherty commented on gene: MEFV: 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 MCM4 Louise Daugherty commented on gene: MCM4: 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 MAP3K14 Louise Daugherty commented on gene: MAP3K14: 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 MALT1 Louise Daugherty commented on gene: MALT1: 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 MAGT1 Louise Daugherty commented on gene: MAGT1: 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 LYST Louise Daugherty commented on gene: LYST: 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 LRBA Louise Daugherty commented on gene: LRBA: 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 LPIN2 Louise Daugherty commented on gene: LPIN2: 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 LIG4 Louise Daugherty commented on gene: LIG4: 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 LCK Louise Daugherty commented on gene: LCK: 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 LAT Louise Daugherty commented on gene: LAT: 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 LAMTOR2 Louise Daugherty commented on gene: LAMTOR2: 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 JAK3 Louise Daugherty commented on gene: JAK3: 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 JAGN1 Louise Daugherty commented on gene: JAGN1: 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 ITK Louise Daugherty commented on gene: ITK: 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 ITGB2 Louise Daugherty commented on gene: ITGB2: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ITCH Louise Daugherty commented on gene: ITCH: Gene rating submitted by 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 ISG15 Louise Daugherty commented on gene: ISG15: 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 IRF8 Louise Daugherty commented on gene: IRF8: 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 IRAK4 Louise Daugherty commented on gene: IRAK4: 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 INO80 Louise Daugherty commented on gene: INO80: 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 IL7R Louise Daugherty commented on gene: IL7R: 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 IL36RN Louise Daugherty commented on gene: IL36RN: 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 IL2RG Louise Daugherty commented on gene: IL2RG: 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 IL2RA Louise Daugherty commented on gene: IL2RA: 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 IL21R Louise Daugherty commented on gene: IL21R: 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 IL1RN Louise Daugherty commented on gene: IL1RN: 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 IL17RC Louise Daugherty commented on gene: IL17RC: 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 IL17RA Louise Daugherty commented on gene: IL17RA: 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 IL12RB1 Louise Daugherty commented on gene: IL12RB1: 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 IL12B Louise Daugherty commented on gene: IL12B: 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 IL10RB Louise Daugherty commented on gene: IL10RB: 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 IL10RA Louise Daugherty commented on gene: IL10RA: 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 IL10 Louise Daugherty commented on gene: IL10: 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 IKZF1 Louise Daugherty commented on gene: IKZF1: 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 IKBKG Louise Daugherty commented on gene: IKBKG: 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 IKBKB Louise Daugherty commented on gene: IKBKB: 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 IGLL1 Louise Daugherty commented on gene: IGLL1: 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 IGHM Louise Daugherty commented on gene: IGHM: 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 IFNGR2 Louise Daugherty commented on gene: IFNGR2: 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 IFNGR1 Louise Daugherty commented on gene: IFNGR1: 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 IFIH1 Louise Daugherty commented on gene: IFIH1: 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 ICOS Louise Daugherty commented on gene: ICOS: 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 HTRA2 Louise Daugherty commented on gene: HTRA2: 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 HPS6 Louise Daugherty commented on gene: HPS6: 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 HPS4 Louise Daugherty commented on gene: HPS4: 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 HPS1 Louise Daugherty commented on gene: HPS1: 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 HELLS Louise Daugherty commented on gene: HELLS: 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 HAX1 Louise Daugherty commented on gene: HAX1: 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 GINS1 Louise Daugherty commented on gene: GINS1: 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 GFI1 Louise Daugherty commented on gene: GFI1: 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 GATA2 Louise Daugherty commented on gene: GATA2: 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 GATA1 Louise Daugherty commented on gene: GATA1: 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 G6PD Louise Daugherty commented on gene: G6PD: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 G6PC3 Louise Daugherty commented on gene: G6PC3: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FOXP3 Louise Daugherty commented on gene: FOXP3: 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 FOXN1 Louise Daugherty commented on gene: FOXN1: 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 FERMT3 Louise Daugherty commented on gene: FERMT3: 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 FAT4 Louise Daugherty commented on gene: FAT4: 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 FASLG Louise Daugherty commented on gene: FASLG: 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 FAS Louise Daugherty commented on gene: FAS: 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 FADD Louise Daugherty commented on gene: FADD: 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 F12 Louise Daugherty commented on gene: F12: 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 EXTL3 Louise Daugherty commented on gene: EXTL3: 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 ERCC6L2 Louise Daugherty commented on gene: ERCC6L2: 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 EPG5 Louise Daugherty commented on gene: EPG5: 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 ELANE Louise Daugherty commented on gene: ELANE: 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 DOCK8 Louise Daugherty commented on gene: DOCK8: 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 DOCK2 Louise Daugherty commented on gene: DOCK2: 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 DNMT3B Louise Daugherty commented on gene: DNMT3B: 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 DNASE2 Louise Daugherty commented on gene: DNASE2: 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 DNAJC21 Louise Daugherty commented on gene: DNAJC21: 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 DKC1 Louise Daugherty commented on gene: DKC1: 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 DCLRE1C Louise Daugherty commented on gene: DCLRE1C: 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 DCLRE1B Louise Daugherty commented on gene: DCLRE1B: 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 CYBB Louise Daugherty commented on gene: CYBB: 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 CYBA Louise Daugherty commented on gene: CYBA: 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 CXCR4 Louise Daugherty commented on gene: CXCR4: 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 CTSC Louise Daugherty commented on gene: CTSC: 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 CTPS1 Louise Daugherty commented on gene: CTPS1: 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 CTLA4 Louise Daugherty commented on gene: CTLA4: 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 CSF3R Louise Daugherty commented on gene: CSF3R: 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 CSF2RB Louise Daugherty commented on gene: CSF2RB: 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 CSF2RA Louise Daugherty commented on gene: CSF2RA: 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 CORO1A Louise Daugherty commented on gene: CORO1A: 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 COPA Louise Daugherty commented on gene: COPA: 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 CLPB Louise Daugherty commented on gene: CLPB: 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 CIITA Louise Daugherty commented on gene: CIITA: 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 CHD7 Louise Daugherty commented on gene: CHD7: 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 CFP Louise Daugherty commented on gene: CFP: 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 CFI Louise Daugherty commented on gene: CFI: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CFH Louise Daugherty commented on gene: CFH: Gene rating submitted by 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 CFD Louise Daugherty commented on gene: CFD: 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 CFB Louise Daugherty commented on gene: CFB: 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 CEBPE Louise Daugherty commented on gene: CEBPE: 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 CDCA7 Louise Daugherty commented on gene: CDCA7: 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 CD79B Louise Daugherty commented on gene: CD79B: 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 CD79A Louise Daugherty commented on gene: CD79A: 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 CD70 Louise Daugherty commented on gene: CD70: 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 CD59 Louise Daugherty commented on gene: CD59: 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 CD55 Louise Daugherty commented on gene: CD55: 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 CD46 Louise Daugherty commented on gene: CD46: 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 CD40LG Louise Daugherty commented on gene: CD40LG: 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 CD40 Louise Daugherty commented on gene: CD40: 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 CD3G Louise Daugherty commented on gene: CD3G: 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 CD3E Louise Daugherty commented on gene: CD3E: 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 CD3D Louise Daugherty commented on gene: CD3D: 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 CD27 Louise Daugherty commented on gene: CD27: 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 CD19 Louise Daugherty commented on gene: CD19: 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 CCBE1 Louise Daugherty commented on gene: CCBE1: 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 CASP8 Louise Daugherty commented on gene: CASP8: 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 CASP10 Louise Daugherty commented on gene: CASP10: 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 CARMIL2 Louise Daugherty commented on gene: CARMIL2: 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 CARD9 Louise Daugherty commented on gene: CARD9: 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 CARD14 Louise Daugherty commented on gene: CARD14: 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 CARD11 Louise Daugherty commented on gene: CARD11: 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 C9 Louise Daugherty commented on gene: C9: 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 C8B Louise Daugherty commented on gene: C8B: 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 C8A Louise Daugherty commented on gene: C8A: 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 C7 Louise Daugherty commented on gene: C7: 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 C6 Louise Daugherty commented on gene: C6: 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 C5 Louise Daugherty commented on gene: C5: 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 C4B Louise Daugherty commented on gene: C4B: 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 C4A Louise Daugherty commented on gene: C4A: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C3 Louise Daugherty commented on gene: C3: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C2 Louise Daugherty commented on gene: C2: 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 C1S Louise Daugherty commented on gene: C1S: 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 C1R Louise Daugherty commented on gene: C1R: 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 C1QC Louise Daugherty commented on gene: C1QC: 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 C1QB Louise Daugherty commented on gene: C1QB: 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 C1QA Louise Daugherty commented on gene: C1QA: 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 BTK Louise Daugherty commented on gene: BTK: 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 BLNK Louise Daugherty commented on gene: BLNK: 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 BLM Louise Daugherty commented on gene: BLM: 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 BACH2 Louise Daugherty commented on gene: BACH2: 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 B2M Louise Daugherty commented on gene: B2M: 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 ATP6AP1 Louise Daugherty commented on gene: ATP6AP1: 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 ATM Louise Daugherty commented on gene: ATM: 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 ARPC1B Louise Daugherty commented on gene: ARPC1B: 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 AP3B1 Louise Daugherty commented on gene: AP3B1: 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 AK2 Louise Daugherty commented on gene: AK2: 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 AIRE Louise Daugherty commented on gene: AIRE: 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 AICDA Louise Daugherty commented on gene: AICDA: 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 ADAR Louise Daugherty commented on gene: ADAR: 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 ADA2 Louise Daugherty commented on gene: ADA2: 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 ADA Louise Daugherty commented on gene: ADA: 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 ACP5 Louise Daugherty commented on gene: ACP5: 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 ACD Louise Daugherty commented on gene: ACD: 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 ZBTB24 Louise Daugherty edited their review of gene: ZBTB24: Added comment: 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.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ZAP70 Louise Daugherty commented on gene: ZAP70: 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 XIAP Louise Daugherty commented on gene: XIAP: 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 WIPF1 Louise Daugherty commented on gene: WIPF1: 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 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 VPS45 Louise Daugherty commented on gene: VPS45: 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 VPS13B Louise Daugherty commented on gene: VPS13B: 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 USB1 Louise Daugherty commented on gene: USB1: 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 UNG Louise Daugherty commented on gene: UNG: 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 UNC93B1 Louise Daugherty commented on gene: UNC93B1: 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 UNC13D Louise Daugherty commented on gene: UNC13D: 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 TYK2 Louise Daugherty commented on gene: TYK2: 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 TTC7A Louise Daugherty commented on gene: TTC7A: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TTC37 Louise Daugherty commented on gene: TTC37: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TRNT1 Louise Daugherty commented on gene: TRNT1: 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 TREX1 Louise Daugherty commented on gene: TREX1: 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 TRAC Louise Daugherty commented on gene: TRAC: 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 TPP2 Louise Daugherty commented on gene: TPP2: 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 TNFRSF1A Louise Daugherty commented on gene: TNFRSF1A: 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 TNFAIP3 Louise Daugherty commented on gene: TNFAIP3: 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 TMEM173 Louise Daugherty edited their review of gene: TMEM173: Added comment: 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.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TMC8 Louise Daugherty commented on gene: TMC8: 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 TMC6 Louise Daugherty commented on gene: TMC6: 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 TLR3 Louise Daugherty commented on gene: TLR3: 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 TICAM1 Louise Daugherty commented on gene: TICAM1: 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 TCN2 Louise Daugherty commented on gene: TCN2: 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 TCF3 Louise Daugherty commented on gene: TCF3: 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 TBK1 Louise Daugherty commented on gene: TBK1: 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 TAZ Louise Daugherty commented on gene: TAZ: 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 TAP2 Louise Daugherty commented on gene: TAP2: 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 TAP1 Louise Daugherty commented on gene: TAP1: 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 STXBP2 Louise Daugherty commented on gene: STXBP2: 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 STX11 Louise Daugherty commented on gene: STX11: 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 STK4 Louise Daugherty commented on gene: STK4: 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 STIM1 Louise Daugherty commented on gene: STIM1: 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 STAT5B Louise Daugherty commented on gene: STAT5B: 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 STAT3 Louise Daugherty edited their review of gene: STAT3: Added comment: 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.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STAT2 Louise Daugherty commented on gene: STAT2: 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 STAT1 Louise Daugherty edited their review of gene: STAT1: Added comment: 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.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SPPL2A Louise Daugherty commented on gene: SPPL2A: 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 SPINK5 Louise Daugherty commented on gene: SPINK5: 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 SP110 Louise Daugherty commented on gene: SP110: 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 SMARCAL1 Louise Daugherty commented on gene: SMARCAL1: 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 SLC46A1 Louise Daugherty commented on gene: SLC46A1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SLC37A4 Louise Daugherty commented on gene: SLC37A4: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SLC35C1 Louise Daugherty commented on gene: SLC35C1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SLC29A3 Louise Daugherty commented on gene: SLC29A3: 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 SKIV2L Louise Daugherty commented on gene: SKIV2L: 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 SH2D1A Louise Daugherty commented on gene: SH2D1A: 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 SGPL1 Louise Daugherty edited their review of gene: SGPL1: Added comment: 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.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SERPING1 Louise Daugherty commented on gene: SERPING1: 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 SBDS Louise Daugherty commented on gene: SBDS: 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 SAMHD1 Louise Daugherty commented on gene: SAMHD1: 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 RTEL1 Louise Daugherty commented on gene: RTEL1: 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 RPSA Louise Daugherty commented on gene: RPSA: 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 RORC Louise Daugherty commented on gene: RORC: 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 RNF168 Louise Daugherty commented on gene: RNF168: 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 RNASEH2C Louise Daugherty commented on gene: RNASEH2C: 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 RNASEH2B Louise Daugherty commented on gene: RNASEH2B: 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 RNASEH2A Louise Daugherty commented on gene: RNASEH2A: 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 RMRP Louise Daugherty commented on gene: RMRP: 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 RIPK1 Louise Daugherty commented on gene: RIPK1: 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 RFXAP Louise Daugherty commented on gene: RFXAP: 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 RFXANK Louise Daugherty commented on gene: RFXANK: 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 RFX5 Louise Daugherty commented on gene: RFX5: 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 RBCK1 Louise Daugherty commented on gene: RBCK1: 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 RASGRP1 Louise Daugherty edited their review of gene: RASGRP1: Added comment: 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.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RAG2 Louise Daugherty commented on gene: RAG2: 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 RAG1 Louise Daugherty commented on gene: RAG1: 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 RAB27A Louise Daugherty commented on gene: RAB27A: 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 PTPRC Louise Daugherty commented on gene: PTPRC: 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 PSTPIP1 Louise Daugherty commented on gene: PSTPIP1: 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 PSMB8 Louise Daugherty commented on gene: PSMB8: 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 PRKDC Louise Daugherty commented on gene: PRKDC: 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 PRKCD Louise Daugherty commented on gene: PRKCD: 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 PRF1 Louise Daugherty commented on gene: PRF1: 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 POLA1 Louise Daugherty reviewed gene: POLA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PNP Louise Daugherty commented on gene: PNP: 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 PLCG2 Louise Daugherty commented on gene: PLCG2: 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 PIK3R1 Louise Daugherty commented on gene: PIK3R1: 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 PIK3CD Louise Daugherty commented on gene: PIK3CD: 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 PGM3 Louise Daugherty commented on gene: PGM3: 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 PEPD Louise Daugherty edited their review of gene: PEPD: Added comment: 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.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PARN Louise Daugherty commented on gene: PARN: 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 OTULIN Louise Daugherty reviewed gene: OTULIN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ORAI1 Louise Daugherty commented on gene: ORAI1: 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 NSMCE3 Louise Daugherty edited their review of gene: NSMCE3: Added comment: 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.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NRAS Louise Daugherty edited their review of gene: NRAS: Added comment: 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.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NOD2 Louise Daugherty commented on gene: NOD2: 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 NLRP3 Louise Daugherty commented on gene: NLRP3: 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 NLRP12 Louise Daugherty commented on gene: NLRP12: 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 NLRP1 Louise Daugherty edited their review of gene: NLRP1: Added comment: 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.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NLRC4 Louise Daugherty commented on gene: NLRC4: 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 NHP2 Louise Daugherty commented on gene: NHP2: 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 NHEJ1 Louise Daugherty commented on gene: NHEJ1: 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 NFKBIA Louise Daugherty commented on gene: NFKBIA: 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 NFKB2 Louise Daugherty commented on gene: NFKB2: 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 NFKB1 Louise Daugherty commented on gene: NFKB1: 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 NCF4 Louise Daugherty commented on gene: NCF4: 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 NCF2 Louise Daugherty commented on gene: NCF2: 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 NCF1 Louise Daugherty commented on gene: NCF1: 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 NBN Louise Daugherty commented on gene: NBN: 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 MYSM1 Louise Daugherty commented on gene: MYSM1: 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 MYO5B Louise Daugherty edited their review of gene: MYO5B: Added comment: 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.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MYD88 Louise Daugherty commented on gene: MYD88: 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 MVK Louise Daugherty commented on gene: MVK: 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 MTHFD1 Louise Daugherty commented on gene: MTHFD1: 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 MSN Louise Daugherty commented on gene: MSN: 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 MOGS Louise Daugherty commented on gene: MOGS: 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 MEFV Louise Daugherty commented on gene: MEFV: 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 MCM4 Louise Daugherty commented on gene: MCM4: 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 MAP3K14 Louise Daugherty commented on gene: MAP3K14: 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 MALT1 Louise Daugherty commented on gene: MALT1: 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 MAGT1 Louise Daugherty commented on gene: MAGT1: 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 LYST Louise Daugherty commented on gene: LYST: 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 LRBA Louise Daugherty commented on gene: LRBA: 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 LPIN2 Louise Daugherty commented on gene: LPIN2: 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 LIG4 Louise Daugherty commented on gene: LIG4: 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 LCK Louise Daugherty commented on gene: LCK: 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 LAT Louise Daugherty commented on gene: LAT: 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 LAMTOR2 Louise Daugherty commented on gene: LAMTOR2: 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 JAK3 Louise Daugherty commented on gene: JAK3: 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 JAGN1 Louise Daugherty commented on gene: JAGN1: 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 ITK Louise Daugherty commented on gene: ITK: 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 ITGB2 Louise Daugherty commented on gene: ITGB2: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ITCH Louise Daugherty commented on gene: ITCH: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ISG15 Louise Daugherty commented on gene: ISG15: 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 IRF8 Louise Daugherty edited their review of gene: IRF8: Added comment: 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.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IRAK4 Louise Daugherty commented on gene: IRAK4: 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 INO80 Louise Daugherty commented on gene: INO80: 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 IL7R Louise Daugherty commented on gene: IL7R: 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 IL36RN Louise Daugherty commented on gene: IL36RN: 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 IL2RG Louise Daugherty commented on gene: IL2RG: 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 IL2RA Louise Daugherty commented on gene: IL2RA: 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 IL21R Louise Daugherty commented on gene: IL21R: 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 IL1RN Louise Daugherty commented on gene: IL1RN: 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 IL17RC Louise Daugherty commented on gene: IL17RC: 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 IL17RA Louise Daugherty commented on gene: IL17RA: 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 IL12RB1 Louise Daugherty commented on gene: IL12RB1: 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 IL12B Louise Daugherty commented on gene: IL12B: 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 IL10RB Louise Daugherty commented on gene: IL10RB: 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 IL10RA Louise Daugherty commented on gene: IL10RA: 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 IL10 Louise Daugherty commented on gene: IL10: 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 IKZF1 Louise Daugherty commented on gene: IKZF1: 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 IKBKG Louise Daugherty commented on gene: IKBKG: 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 IKBKB Louise Daugherty commented on gene: IKBKB: 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 IGLL1 Louise Daugherty commented on gene: IGLL1: 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 IGHM Louise Daugherty commented on gene: IGHM: 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 IFNGR2 Louise Daugherty commented on gene: IFNGR2: 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 IFNGR1 Louise Daugherty commented on gene: IFNGR1: 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 IFIH1 Louise Daugherty commented on gene: IFIH1: 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 ICOS Louise Daugherty commented on gene: ICOS: 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 HTRA2 Louise Daugherty edited their review of gene: HTRA2: Added comment: 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.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 HPS6 Louise Daugherty edited their review of gene: HPS6: Added comment: 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.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 HPS4 Louise Daugherty edited their review of gene: HPS4: Added comment: 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.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 HPS1 Louise Daugherty edited their review of gene: HPS1: Added comment: 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.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 HELLS Louise Daugherty commented on gene: HELLS: 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 HAX1 Louise Daugherty commented on gene: HAX1: 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 GINS1 Louise Daugherty commented on gene: GINS1: 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 GFI1 Louise Daugherty commented on gene: GFI1: 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 GATA2 Louise Daugherty commented on gene: GATA2: 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 GATA1 Louise Daugherty edited their review of gene: GATA1: Added comment: 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.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 G6PD Louise Daugherty commented on gene: G6PD: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 G6PC3 Louise Daugherty commented on gene: G6PC3: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FOXP3 Louise Daugherty commented on gene: FOXP3: 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 FOXN1 Louise Daugherty commented on gene: FOXN1: 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 FERMT3 Louise Daugherty commented on gene: FERMT3: 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 FAT4 Louise Daugherty edited their review of gene: FAT4: Added comment: 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.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FASLG Louise Daugherty commented on gene: FASLG: 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 FAS Louise Daugherty commented on gene: FAS: 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 FADD Louise Daugherty commented on gene: FADD: 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 F12 Louise Daugherty commented on gene: F12: 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 EXTL3 Louise Daugherty reviewed gene: EXTL3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ERCC6L2 Louise Daugherty edited their review of gene: ERCC6L2: Added comment: 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.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 EPG5 Louise Daugherty commented on gene: EPG5: 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 ELANE Louise Daugherty commented on gene: ELANE: 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 DOCK8 Louise Daugherty commented on gene: DOCK8: 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 DOCK2 Louise Daugherty commented on gene: DOCK2: 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 DNMT3B Louise Daugherty commented on gene: DNMT3B: 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 DNASE2 Louise Daugherty edited their review of gene: DNASE2: Added comment: 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.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DNAJC21 Louise Daugherty edited their review of gene: DNAJC21: Added comment: 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.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DKC1 Louise Daugherty commented on gene: DKC1: 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 DCLRE1C Louise Daugherty commented on gene: DCLRE1C: 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 DCLRE1B Louise Daugherty commented on gene: DCLRE1B: 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 CYBB Louise Daugherty edited their review of gene: CYBB: Added comment: 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.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CYBA Louise Daugherty commented on gene: CYBA: 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 CXCR4 Louise Daugherty commented on gene: CXCR4: 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 CTSC Louise Daugherty commented on gene: CTSC: 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 CTPS1 Louise Daugherty commented on gene: CTPS1: 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 CTLA4 Louise Daugherty commented on gene: CTLA4: 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 CSF3R Louise Daugherty commented on gene: CSF3R: 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 CSF2RB Louise Daugherty edited their review of gene: CSF2RB: Added comment: 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.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CSF2RA Louise Daugherty commented on gene: CSF2RA: 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 CORO1A Louise Daugherty commented on gene: CORO1A: 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 COPA Louise Daugherty commented on gene: COPA: 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 CLPB Louise Daugherty commented on gene: CLPB: 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 CIITA Louise Daugherty commented on gene: CIITA: 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 CHD7 Louise Daugherty commented on gene: CHD7: 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 CFP Louise Daugherty commented on gene: CFP: 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 CFI Louise Daugherty commented on gene: CFI: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CFH Louise Daugherty commented on gene: CFH: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CFD Louise Daugherty commented on gene: CFD: 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 CFB Louise Daugherty edited their review of gene: CFB: Added comment: 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.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CEBPE Louise Daugherty commented on gene: CEBPE: 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 CDCA7 Louise Daugherty commented on gene: CDCA7: 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 CD79B Louise Daugherty commented on gene: CD79B: 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 CD79A Louise Daugherty commented on gene: CD79A: 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 CD70 Louise Daugherty commented on gene: CD70: 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 CD59 Louise Daugherty commented on gene: CD59: 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 CD55 Louise Daugherty commented on gene: CD55: 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 CD46 Louise Daugherty commented on gene: CD46: 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 CD40LG Louise Daugherty commented on gene: CD40LG: 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 CD40 Louise Daugherty commented on gene: CD40: 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 CD3G Louise Daugherty commented on gene: CD3G: 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 CD3E Louise Daugherty commented on gene: CD3E: 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 CD3D Louise Daugherty commented on gene: CD3D: 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 CD27 Louise Daugherty commented on gene: CD27: 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 CD19 Louise Daugherty commented on gene: CD19: 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 CCBE1 Louise Daugherty commented on gene: CCBE1: 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 CASP8 Louise Daugherty commented on gene: CASP8: 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 CASP10 Louise Daugherty commented on gene: CASP10: 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 CARMIL2 Louise Daugherty commented on gene: CARMIL2: 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 CARD9 Louise Daugherty commented on gene: CARD9: 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 CARD14 Louise Daugherty edited their review of gene: CARD14: Added comment: 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.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CARD11 Louise Daugherty commented on gene: CARD11: 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 C9 Louise Daugherty commented on gene: C9: 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 C8B Louise Daugherty commented on gene: C8B: 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 C8A Louise Daugherty commented on gene: C8A: 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 C7 Louise Daugherty commented on gene: C7: 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 C6 Louise Daugherty commented on gene: C6: 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 C5 Louise Daugherty commented on gene: C5: 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 C4B Louise Daugherty commented on gene: C4B: 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 C4A Louise Daugherty commented on gene: C4A: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C3 Louise Daugherty commented on gene: C3: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C2 Louise Daugherty commented on gene: C2: 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 C1S Louise Daugherty commented on gene: C1S: 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 C1R Louise Daugherty commented on gene: C1R: 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 C1QC Louise Daugherty commented on gene: C1QC: 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 C1QB Louise Daugherty commented on gene: C1QB: 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 C1QA Louise Daugherty commented on gene: C1QA: 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 BTK Louise Daugherty commented on gene: BTK: 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 BLNK Louise Daugherty commented on gene: BLNK: 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 BLM Louise Daugherty commented on gene: BLM: 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 BACH2 Louise Daugherty edited their review of gene: BACH2: Added comment: 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.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 B2M Louise Daugherty commented on gene: B2M: 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 ATP6AP1 Louise Daugherty commented on gene: ATP6AP1: 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 ATM Louise Daugherty commented on gene: ATM: 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 ARPC1B Louise Daugherty commented on gene: ARPC1B: 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 AP3B1 Louise Daugherty commented on gene: AP3B1: 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 AK2 Louise Daugherty commented on gene: AK2: 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 AIRE Louise Daugherty commented on gene: AIRE: 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 AICDA Louise Daugherty commented on gene: AICDA: 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 ADAR Louise Daugherty commented on gene: ADAR: 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 ADA2 Louise Daugherty commented on gene: ADA2: 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 ADA Louise Daugherty commented on gene: ADA: 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 ACP5 Louise Daugherty commented on gene: ACP5: 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 ACD Louise Daugherty edited their review of gene: ACD: Added comment: 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.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ZBTB24 Kimberly Gilmour reviewed gene: ZBTB24: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ZAP70 Kimberly Gilmour commented on gene: ZAP70: agree with green gene
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 XIAP Kimberly Gilmour reviewed gene: XIAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 WIPF1 Kimberly Gilmour reviewed gene: WIPF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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 VPS45 Kimberly Gilmour reviewed gene: VPS45: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 VPS13B Kimberly Gilmour reviewed gene: VPS13B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 USB1 Kimberly Gilmour reviewed gene: USB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 UNG Kimberly Gilmour reviewed gene: UNG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 UNC93B1 Kimberly Gilmour reviewed gene: UNC93B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 UNC13D Kimberly Gilmour reviewed gene: UNC13D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TYK2 Kimberly Gilmour reviewed gene: TYK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TTC7A Kimberly Gilmour reviewed gene: TTC7A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TTC37 Kimberly Gilmour reviewed gene: TTC37: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TRNT1 Kimberly Gilmour reviewed gene: TRNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TREX1 Kimberly Gilmour reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TRAC Kimberly Gilmour reviewed gene: TRAC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TPP2 Kimberly Gilmour reviewed gene: TPP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TNFRSF1A Kimberly Gilmour reviewed gene: TNFRSF1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TNFAIP3 Kimberly Gilmour reviewed gene: TNFAIP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TMEM173 Kimberly Gilmour reviewed gene: TMEM173: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TMC8 Kimberly Gilmour reviewed gene: TMC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TMC6 Kimberly Gilmour reviewed gene: TMC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TLR3 Kimberly Gilmour reviewed gene: TLR3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TICAM1 Kimberly Gilmour reviewed gene: TICAM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TCN2 Kimberly Gilmour reviewed gene: TCN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TCF3 Kimberly Gilmour reviewed gene: TCF3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TBK1 Kimberly Gilmour reviewed gene: TBK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TAZ Kimberly Gilmour reviewed gene: TAZ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TAP2 Kimberly Gilmour reviewed gene: TAP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TAP1 Kimberly Gilmour reviewed gene: TAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STXBP2 Kimberly Gilmour reviewed gene: STXBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STX11 Kimberly Gilmour reviewed gene: STX11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STK4 Kimberly Gilmour reviewed gene: STK4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STIM1 Kimberly Gilmour edited their review of gene: STIM1: Added comment: agree with green gene; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STAT5B Kimberly Gilmour edited their review of gene: STAT5B: Added comment: agree with green gene; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STAT3 Kimberly Gilmour reviewed gene: STAT3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STAT2 Kimberly Gilmour reviewed gene: STAT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STAT1 Kimberly Gilmour reviewed gene: STAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SPPL2A Kimberly Gilmour reviewed gene: SPPL2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SPINK5 Kimberly Gilmour reviewed gene: SPINK5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SP110 Kimberly Gilmour reviewed gene: SP110: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SMARCAL1 Kimberly Gilmour reviewed gene: SMARCAL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SLC46A1 Kimberly Gilmour reviewed gene: SLC46A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SLC37A4 Kimberly Gilmour reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SLC35C1 Kimberly Gilmour reviewed gene: SLC35C1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SLC29A3 Kimberly Gilmour reviewed gene: SLC29A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SKIV2L Kimberly Gilmour reviewed gene: SKIV2L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SH2D1A Kimberly Gilmour reviewed gene: SH2D1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SGPL1 Kimberly Gilmour reviewed gene: SGPL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SERPING1 Kimberly Gilmour reviewed gene: SERPING1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SBDS Kimberly Gilmour reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SAMHD1 Kimberly Gilmour reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RTEL1 Kimberly Gilmour reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RPSA Kimberly Gilmour reviewed gene: RPSA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RORC Kimberly Gilmour reviewed gene: RORC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RNF168 Kimberly Gilmour reviewed gene: RNF168: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RNASEH2C Kimberly Gilmour reviewed gene: RNASEH2C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RNASEH2B Kimberly Gilmour reviewed gene: RNASEH2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RNASEH2A Kimberly Gilmour reviewed gene: RNASEH2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RMRP Kimberly Gilmour reviewed gene: RMRP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RIPK1 Kimberly Gilmour reviewed gene: RIPK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RFXAP Kimberly Gilmour reviewed gene: RFXAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RFXANK Kimberly Gilmour reviewed gene: RFXANK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RFX5 Kimberly Gilmour reviewed gene: RFX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RBCK1 Kimberly Gilmour reviewed gene: RBCK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RASGRP1 Kimberly Gilmour reviewed gene: RASGRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RAG2 Kimberly Gilmour commented on gene: RAG2: agree with green gene
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RAG1 Kimberly Gilmour commented on gene: RAG1: agree with green gene
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RAB27A Kimberly Gilmour reviewed gene: RAB27A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PTPRC Kimberly Gilmour commented on gene: PTPRC: agree with green gene
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PSTPIP1 Kimberly Gilmour reviewed gene: PSTPIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PSMB8 Kimberly Gilmour reviewed gene: PSMB8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PRKDC Kimberly Gilmour commented on gene: PRKDC: agree with green gene
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PRKCD Kimberly Gilmour reviewed gene: PRKCD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PRF1 Kimberly Gilmour reviewed gene: PRF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 POLA1 Kimberly Gilmour reviewed gene: POLA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PNP Kimberly Gilmour commented on gene: PNP: agree with green gene
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PLCG2 Kimberly Gilmour reviewed gene: PLCG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PIK3R1 Kimberly Gilmour reviewed gene: PIK3R1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PIK3CD Kimberly Gilmour reviewed gene: PIK3CD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PGM3 Kimberly Gilmour reviewed gene: PGM3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PEPD Kimberly Gilmour reviewed gene: PEPD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PARN Kimberly Gilmour reviewed gene: PARN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 OTULIN Kimberly Gilmour reviewed gene: OTULIN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ORAI1 Kimberly Gilmour edited their review of gene: ORAI1: Added comment: agree with green gene; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NSMCE3 Kimberly Gilmour reviewed gene: NSMCE3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NRAS Kimberly Gilmour reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NOD2 Kimberly Gilmour reviewed gene: NOD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NLRP3 Kimberly Gilmour reviewed gene: NLRP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NLRP12 Kimberly Gilmour reviewed gene: NLRP12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NLRP1 Kimberly Gilmour reviewed gene: NLRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NLRC4 Kimberly Gilmour reviewed gene: NLRC4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NHP2 Kimberly Gilmour reviewed gene: NHP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NHEJ1 Kimberly Gilmour commented on gene: NHEJ1: agree with green gene
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NFKBIA Kimberly Gilmour reviewed gene: NFKBIA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NFKB2 Kimberly Gilmour reviewed gene: NFKB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NFKB1 Kimberly Gilmour reviewed gene: NFKB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NCF4 Kimberly Gilmour reviewed gene: NCF4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NCF2 Kimberly Gilmour reviewed gene: NCF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NCF1 Kimberly Gilmour reviewed gene: NCF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NBN Kimberly Gilmour reviewed gene: NBN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MYSM1 Kimberly Gilmour reviewed gene: MYSM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MYO5B Kimberly Gilmour reviewed gene: MYO5B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MYD88 Kimberly Gilmour reviewed gene: MYD88: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MVK Kimberly Gilmour reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MTHFD1 Kimberly Gilmour reviewed gene: MTHFD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MSN Kimberly Gilmour reviewed gene: MSN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MOGS Kimberly Gilmour reviewed gene: MOGS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MEFV Kimberly Gilmour reviewed gene: MEFV: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MCM4 Kimberly Gilmour reviewed gene: MCM4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MAP3K14 Kimberly Gilmour reviewed gene: MAP3K14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MALT1 Kimberly Gilmour reviewed gene: MALT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MAGT1 Kimberly Gilmour reviewed gene: MAGT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 LYST Kimberly Gilmour reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 LRBA Kimberly Gilmour reviewed gene: LRBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 LPIN2 Kimberly Gilmour reviewed gene: LPIN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 LIG4 Kimberly Gilmour commented on gene: LIG4: agree with green gene
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 LCK Kimberly Gilmour reviewed gene: LCK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 LAT Kimberly Gilmour reviewed gene: LAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 LAMTOR2 Kimberly Gilmour reviewed gene: LAMTOR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 JAK3 Kimberly Gilmour commented on gene: JAK3: agree with green gene
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 JAGN1 Kimberly Gilmour reviewed gene: JAGN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ITK Kimberly Gilmour reviewed gene: ITK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ITGB2 Kimberly Gilmour reviewed gene: ITGB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ITCH Kimberly Gilmour reviewed gene: ITCH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ISG15 Kimberly Gilmour reviewed gene: ISG15: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IRF8 Kimberly Gilmour reviewed gene: IRF8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IRAK4 Kimberly Gilmour reviewed gene: IRAK4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 INO80 Kimberly Gilmour reviewed gene: INO80: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL7R Kimberly Gilmour commented on gene: IL7R: agree with green gene
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL36RN Kimberly Gilmour reviewed gene: IL36RN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL2RG Kimberly Gilmour commented on gene: IL2RG: agree with green gene
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL2RA Kimberly Gilmour reviewed gene: IL2RA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL21R Kimberly Gilmour reviewed gene: IL21R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL1RN Kimberly Gilmour reviewed gene: IL1RN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL17RC Kimberly Gilmour reviewed gene: IL17RC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL17RA Kimberly Gilmour reviewed gene: IL17RA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL12RB1 Kimberly Gilmour reviewed gene: IL12RB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL12B Kimberly Gilmour reviewed gene: IL12B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL10RB Kimberly Gilmour reviewed gene: IL10RB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL10RA Kimberly Gilmour reviewed gene: IL10RA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL10 Kimberly Gilmour reviewed gene: IL10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IKZF1 Kimberly Gilmour reviewed gene: IKZF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IKBKG Kimberly Gilmour reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IKBKB Kimberly Gilmour reviewed gene: IKBKB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IGLL1 Kimberly Gilmour reviewed gene: IGLL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IGHM Kimberly Gilmour reviewed gene: IGHM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IFNGR2 Kimberly Gilmour reviewed gene: IFNGR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IFNGR1 Kimberly Gilmour reviewed gene: IFNGR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IFIH1 Kimberly Gilmour reviewed gene: IFIH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ICOS Kimberly Gilmour reviewed gene: ICOS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 HTRA2 Kimberly Gilmour reviewed gene: HTRA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 HPS6 Kimberly Gilmour reviewed gene: HPS6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 HPS4 Kimberly Gilmour reviewed gene: HPS4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 HPS1 Kimberly Gilmour reviewed gene: HPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 HELLS Kimberly Gilmour reviewed gene: HELLS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 HAX1 Kimberly Gilmour reviewed gene: HAX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 GINS1 Kimberly Gilmour reviewed gene: GINS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 GFI1 Kimberly Gilmour reviewed gene: GFI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 GATA2 Kimberly Gilmour reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 GATA1 Kimberly Gilmour reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 G6PD Kimberly Gilmour reviewed gene: G6PD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 G6PC3 Kimberly Gilmour reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FOXP3 Kimberly Gilmour reviewed gene: FOXP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FOXN1 Kimberly Gilmour edited their review of gene: FOXN1: Added comment: agree with green gene; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FERMT3 Kimberly Gilmour reviewed gene: FERMT3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FAT4 Kimberly Gilmour reviewed gene: FAT4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FASLG Kimberly Gilmour reviewed gene: FASLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FAS Kimberly Gilmour reviewed gene: FAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FADD Kimberly Gilmour reviewed gene: FADD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 F12 Kimberly Gilmour reviewed gene: F12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 EXTL3 Kimberly Gilmour reviewed gene: EXTL3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ERCC6L2 Kimberly Gilmour reviewed gene: ERCC6L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 EPG5 Kimberly Gilmour reviewed gene: EPG5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ELANE Kimberly Gilmour reviewed gene: ELANE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DOCK8 Kimberly Gilmour reviewed gene: DOCK8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DOCK2 Kimberly Gilmour reviewed gene: DOCK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DNMT3B Kimberly Gilmour reviewed gene: DNMT3B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DNASE2 Kimberly Gilmour reviewed gene: DNASE2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DNAJC21 Kimberly Gilmour reviewed gene: DNAJC21: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DKC1 Kimberly Gilmour reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DCLRE1C Kimberly Gilmour commented on gene: DCLRE1C: agree with green gene
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DCLRE1B Kimberly Gilmour reviewed gene: DCLRE1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CYBB Kimberly Gilmour reviewed gene: CYBB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CYBA Kimberly Gilmour reviewed gene: CYBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CXCR4 Kimberly Gilmour reviewed gene: CXCR4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CTSC Kimberly Gilmour reviewed gene: CTSC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CTPS1 Kimberly Gilmour reviewed gene: CTPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CTLA4 Kimberly Gilmour reviewed gene: CTLA4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CSF3R Kimberly Gilmour reviewed gene: CSF3R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CSF2RB Kimberly Gilmour reviewed gene: CSF2RB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CSF2RA Kimberly Gilmour reviewed gene: CSF2RA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CORO1A Kimberly Gilmour reviewed gene: CORO1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 COPA Kimberly Gilmour reviewed gene: COPA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CLPB Kimberly Gilmour reviewed gene: CLPB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CIITA Kimberly Gilmour reviewed gene: CIITA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CHD7 Kimberly Gilmour reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CFP Kimberly Gilmour reviewed gene: CFP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CFI Kimberly Gilmour reviewed gene: CFI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CFH Kimberly Gilmour reviewed gene: CFH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CFD Kimberly Gilmour reviewed gene: CFD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CFB Kimberly Gilmour reviewed gene: CFB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CEBPE Kimberly Gilmour reviewed gene: CEBPE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CDCA7 Kimberly Gilmour reviewed gene: CDCA7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD79B Kimberly Gilmour reviewed gene: CD79B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD79A Kimberly Gilmour reviewed gene: CD79A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD70 Kimberly Gilmour reviewed gene: CD70: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD59 Kimberly Gilmour reviewed gene: CD59: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD55 Kimberly Gilmour reviewed gene: CD55: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD46 Kimberly Gilmour reviewed gene: CD46: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD40LG Kimberly Gilmour reviewed gene: CD40LG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD40 Kimberly Gilmour reviewed gene: CD40: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD3G Kimberly Gilmour reviewed gene: CD3G: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD3E Kimberly Gilmour commented on gene: CD3E: agree with green gene
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD3D Kimberly Gilmour commented on gene: CD3D: agree with green gene
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD27 Kimberly Gilmour reviewed gene: CD27: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD19 Kimberly Gilmour reviewed gene: CD19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CCBE1 Kimberly Gilmour reviewed gene: CCBE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CASP8 Kimberly Gilmour reviewed gene: CASP8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CASP10 Kimberly Gilmour reviewed gene: CASP10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CARMIL2 Kimberly Gilmour reviewed gene: CARMIL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CARD9 Kimberly Gilmour reviewed gene: CARD9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CARD14 Kimberly Gilmour reviewed gene: CARD14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CARD11 Kimberly Gilmour reviewed gene: CARD11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C9 Kimberly Gilmour reviewed gene: C9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C8B Kimberly Gilmour reviewed gene: C8B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C8A Kimberly Gilmour reviewed gene: C8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C7 Kimberly Gilmour reviewed gene: C7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C6 Kimberly Gilmour reviewed gene: C6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C5 Kimberly Gilmour reviewed gene: C5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C4B Kimberly Gilmour reviewed gene: C4B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C4A Kimberly Gilmour reviewed gene: C4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C3 Kimberly Gilmour reviewed gene: C3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C2 Kimberly Gilmour reviewed gene: C2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C1S Kimberly Gilmour reviewed gene: C1S: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C1R Kimberly Gilmour reviewed gene: C1R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C1QC Kimberly Gilmour reviewed gene: C1QC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C1QB Kimberly Gilmour reviewed gene: C1QB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C1QA Kimberly Gilmour reviewed gene: C1QA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 BTK Kimberly Gilmour reviewed gene: BTK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 BLNK Kimberly Gilmour reviewed gene: BLNK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 BLM Kimberly Gilmour reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 BACH2 Kimberly Gilmour reviewed gene: BACH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 B2M Kimberly Gilmour reviewed gene: B2M: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ATP6AP1 Kimberly Gilmour reviewed gene: ATP6AP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ATM Kimberly Gilmour reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ARPC1B Kimberly Gilmour reviewed gene: ARPC1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 AP3B1 Kimberly Gilmour reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 AK2 Kimberly Gilmour commented on gene: AK2: agree with green gene
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 AIRE Kimberly Gilmour reviewed gene: AIRE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 AICDA Kimberly Gilmour reviewed gene: AICDA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ADAR Kimberly Gilmour reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ADA2 Kimberly Gilmour reviewed gene: ADA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ADA Kimberly Gilmour commented on gene: ADA: agree with green gene
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ACP5 Kimberly Gilmour reviewed gene: ACP5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ACD Kimberly Gilmour reviewed gene: ACD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ZBTB24 Tracy Briggs reviewed gene: ZBTB24: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ZAP70 Tracy Briggs reviewed gene: ZAP70: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 XIAP Tracy Briggs reviewed gene: XIAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 WIPF1 Tracy Briggs reviewed gene: WIPF1: 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 v1.94 VPS45 Tracy Briggs commented on gene: VPS45: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 VPS13B Tracy Briggs reviewed gene: VPS13B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 USB1 Tracy Briggs reviewed gene: USB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 UNG Tracy Briggs reviewed gene: UNG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 UNC93B1 Tracy Briggs reviewed gene: UNC93B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 UNC13D Tracy Briggs reviewed gene: UNC13D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TYK2 Tracy Briggs reviewed gene: TYK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TTC7A Tracy Briggs reviewed gene: TTC7A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TTC37 Tracy Briggs reviewed gene: TTC37: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TRNT1 Tracy Briggs reviewed gene: TRNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TREX1 Tracy Briggs reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TRAC Tracy Briggs reviewed gene: TRAC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TPP2 Tracy Briggs reviewed gene: TPP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TNFRSF1A Tracy Briggs reviewed gene: TNFRSF1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TNFAIP3 Tracy Briggs reviewed gene: TNFAIP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TMEM173 Tracy Briggs reviewed gene: TMEM173: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TMC8 Tracy Briggs reviewed gene: TMC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TMC6 Tracy Briggs reviewed gene: TMC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TLR3 Tracy Briggs reviewed gene: TLR3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TICAM1 Tracy Briggs reviewed gene: TICAM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TCN2 Tracy Briggs reviewed gene: TCN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TCF3 Tracy Briggs reviewed gene: TCF3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TBK1 Tracy Briggs reviewed gene: TBK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TAZ Tracy Briggs reviewed gene: TAZ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TAP2 Tracy Briggs reviewed gene: TAP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TAP1 Tracy Briggs reviewed gene: TAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STXBP2 Tracy Briggs reviewed gene: STXBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STX11 Tracy Briggs reviewed gene: STX11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STK4 Tracy Briggs reviewed gene: STK4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STIM1 Tracy Briggs reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STAT5B Tracy Briggs reviewed gene: STAT5B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STAT3 Tracy Briggs reviewed gene: STAT3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STAT2 Tracy Briggs reviewed gene: STAT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STAT1 Tracy Briggs reviewed gene: STAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SPPL2A Tracy Briggs reviewed gene: SPPL2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SPINK5 Tracy Briggs reviewed gene: SPINK5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SP110 Tracy Briggs reviewed gene: SP110: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SMARCAL1 Tracy Briggs reviewed gene: SMARCAL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SLC46A1 Tracy Briggs reviewed gene: SLC46A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SLC37A4 Tracy Briggs reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SLC35C1 Tracy Briggs reviewed gene: SLC35C1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SLC29A3 Tracy Briggs reviewed gene: SLC29A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SKIV2L Tracy Briggs reviewed gene: SKIV2L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SH2D1A Tracy Briggs reviewed gene: SH2D1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SGPL1 Tracy Briggs reviewed gene: SGPL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SERPING1 Tracy Briggs reviewed gene: SERPING1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SBDS Tracy Briggs reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SAMHD1 Tracy Briggs reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RTEL1 Tracy Briggs reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RPSA Tracy Briggs reviewed gene: RPSA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RORC Tracy Briggs reviewed gene: RORC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RNF168 Tracy Briggs reviewed gene: RNF168: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RNASEH2C Tracy Briggs reviewed gene: RNASEH2C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RNASEH2B Tracy Briggs reviewed gene: RNASEH2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RNASEH2A Tracy Briggs reviewed gene: RNASEH2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RMRP Tracy Briggs reviewed gene: RMRP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RIPK1 Tracy Briggs reviewed gene: RIPK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RFXAP Tracy Briggs reviewed gene: RFXAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RFXANK Tracy Briggs reviewed gene: RFXANK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RFX5 Tracy Briggs reviewed gene: RFX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RBCK1 Tracy Briggs reviewed gene: RBCK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RASGRP1 Tracy Briggs reviewed gene: RASGRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RAG2 Tracy Briggs commented on gene: RAG2: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RAG1 Tracy Briggs commented on gene: RAG1: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RAB27A Tracy Briggs reviewed gene: RAB27A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PTPRC Tracy Briggs commented on gene: PTPRC: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PSTPIP1 Tracy Briggs reviewed gene: PSTPIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PSMB8 Tracy Briggs reviewed gene: PSMB8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PRKDC Tracy Briggs reviewed gene: PRKDC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PRKCD Tracy Briggs reviewed gene: PRKCD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PRF1 Tracy Briggs reviewed gene: PRF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 POLA1 Tracy Briggs reviewed gene: POLA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PNP Tracy Briggs commented on gene: PNP: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PLCG2 Tracy Briggs reviewed gene: PLCG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PIK3R1 Tracy Briggs commented on gene: PIK3R1: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PIK3CD Tracy Briggs commented on gene: PIK3CD: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PGM3 Tracy Briggs reviewed gene: PGM3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PEPD Tracy Briggs reviewed gene: PEPD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PARN Tracy Briggs reviewed gene: PARN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 OTULIN Tracy Briggs reviewed gene: OTULIN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ORAI1 Tracy Briggs reviewed gene: ORAI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NSMCE3 Tracy Briggs reviewed gene: NSMCE3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NRAS Tracy Briggs reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NOD2 Tracy Briggs reviewed gene: NOD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NLRP3 Tracy Briggs reviewed gene: NLRP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NLRP12 Tracy Briggs reviewed gene: NLRP12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NLRP1 Tracy Briggs reviewed gene: NLRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NLRC4 Tracy Briggs reviewed gene: NLRC4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NHP2 Tracy Briggs reviewed gene: NHP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NHEJ1 Tracy Briggs commented on gene: NHEJ1: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NFKBIA Tracy Briggs reviewed gene: NFKBIA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NFKB2 Tracy Briggs reviewed gene: NFKB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NFKB1 Tracy Briggs reviewed gene: NFKB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NCF4 Tracy Briggs reviewed gene: NCF4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NCF2 Tracy Briggs reviewed gene: NCF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NCF1 Tracy Briggs reviewed gene: NCF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NBN Tracy Briggs reviewed gene: NBN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MYSM1 Tracy Briggs reviewed gene: MYSM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MYO5B Tracy Briggs reviewed gene: MYO5B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MYD88 Tracy Briggs edited their review of gene: MYD88: Added comment: YES- this is covered on our targeted exome; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MVK Tracy Briggs reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MTHFD1 Tracy Briggs reviewed gene: MTHFD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MSN Tracy Briggs reviewed gene: MSN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MOGS Tracy Briggs reviewed gene: MOGS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MEFV Tracy Briggs reviewed gene: MEFV: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MCM4 Tracy Briggs reviewed gene: MCM4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MAP3K14 Tracy Briggs reviewed gene: MAP3K14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MALT1 Tracy Briggs reviewed gene: MALT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MAGT1 Tracy Briggs reviewed gene: MAGT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 LYST Tracy Briggs reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 LRBA Tracy Briggs reviewed gene: LRBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 LPIN2 Tracy Briggs reviewed gene: LPIN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 LIG4 Tracy Briggs commented on gene: LIG4: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 LCK Tracy Briggs reviewed gene: LCK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 LAT Tracy Briggs reviewed gene: LAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 LAMTOR2 Tracy Briggs reviewed gene: LAMTOR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 JAK3 Tracy Briggs commented on gene: JAK3: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 JAGN1 Tracy Briggs reviewed gene: JAGN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ITK Tracy Briggs reviewed gene: ITK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ITGB2 Tracy Briggs reviewed gene: ITGB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ITCH Tracy Briggs reviewed gene: ITCH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ISG15 Tracy Briggs reviewed gene: ISG15: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IRF8 Tracy Briggs reviewed gene: IRF8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IRAK4 Tracy Briggs reviewed gene: IRAK4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 INO80 Tracy Briggs reviewed gene: INO80: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL7R Tracy Briggs commented on gene: IL7R: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL36RN Tracy Briggs reviewed gene: IL36RN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL2RG Tracy Briggs commented on gene: IL2RG: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL2RA Tracy Briggs reviewed gene: IL2RA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL21R Tracy Briggs reviewed gene: IL21R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL1RN Tracy Briggs reviewed gene: IL1RN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL17RC Tracy Briggs reviewed gene: IL17RC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL17RA Tracy Briggs reviewed gene: IL17RA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL12RB1 Tracy Briggs reviewed gene: IL12RB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL12B Tracy Briggs reviewed gene: IL12B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL10RB Tracy Briggs reviewed gene: IL10RB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL10RA Tracy Briggs reviewed gene: IL10RA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL10 Tracy Briggs reviewed gene: IL10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IKZF1 Tracy Briggs reviewed gene: IKZF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IKBKG Tracy Briggs reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IKBKB Tracy Briggs reviewed gene: IKBKB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IGLL1 Tracy Briggs edited their review of gene: IGLL1: Added comment: YES- this is covered on our targeted exome; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IGHM Tracy Briggs reviewed gene: IGHM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IFNGR2 Tracy Briggs reviewed gene: IFNGR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IFNGR1 Tracy Briggs reviewed gene: IFNGR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IFIH1 Tracy Briggs reviewed gene: IFIH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ICOS Tracy Briggs reviewed gene: ICOS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 HTRA2 Tracy Briggs reviewed gene: HTRA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 HPS6 Tracy Briggs reviewed gene: HPS6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 HPS4 Tracy Briggs reviewed gene: HPS4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 HPS1 Tracy Briggs reviewed gene: HPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 HELLS Tracy Briggs reviewed gene: HELLS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 HAX1 Tracy Briggs commented on gene: HAX1: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 GINS1 Tracy Briggs reviewed gene: GINS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 GFI1 Tracy Briggs commented on gene: GFI1: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 GATA2 Tracy Briggs reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 GATA1 Tracy Briggs reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 G6PD Tracy Briggs reviewed gene: G6PD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 G6PC3 Tracy Briggs commented on gene: G6PC3: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FOXP3 Tracy Briggs reviewed gene: FOXP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FOXN1 Tracy Briggs reviewed gene: FOXN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FERMT3 Tracy Briggs reviewed gene: FERMT3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FAT4 Tracy Briggs reviewed gene: FAT4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FASLG Tracy Briggs reviewed gene: FASLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FAS Tracy Briggs reviewed gene: FAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FADD Tracy Briggs reviewed gene: FADD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 F12 Tracy Briggs reviewed gene: F12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 EXTL3 Tracy Briggs reviewed gene: EXTL3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ERCC6L2 Tracy Briggs reviewed gene: ERCC6L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 EPG5 Tracy Briggs reviewed gene: EPG5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ELANE Tracy Briggs reviewed gene: ELANE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DOCK8 Tracy Briggs reviewed gene: DOCK8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DOCK2 Tracy Briggs reviewed gene: DOCK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DNMT3B Tracy Briggs reviewed gene: DNMT3B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DNASE2 Tracy Briggs reviewed gene: DNASE2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DNAJC21 Tracy Briggs reviewed gene: DNAJC21: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DKC1 Tracy Briggs reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DCLRE1C Tracy Briggs commented on gene: DCLRE1C: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DCLRE1B Tracy Briggs reviewed gene: DCLRE1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CYBB Tracy Briggs reviewed gene: CYBB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CYBA Tracy Briggs reviewed gene: CYBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CXCR4 Tracy Briggs reviewed gene: CXCR4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CTSC Tracy Briggs reviewed gene: CTSC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CTPS1 Tracy Briggs reviewed gene: CTPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CTLA4 Tracy Briggs reviewed gene: CTLA4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CSF3R Tracy Briggs reviewed gene: CSF3R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CSF2RB Tracy Briggs reviewed gene: CSF2RB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CSF2RA Tracy Briggs reviewed gene: CSF2RA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CORO1A Tracy Briggs reviewed gene: CORO1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 COPA Tracy Briggs reviewed gene: COPA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CLPB Tracy Briggs reviewed gene: CLPB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CIITA Tracy Briggs reviewed gene: CIITA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CHD7 Tracy Briggs reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CFP Tracy Briggs reviewed gene: CFP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CFI Tracy Briggs reviewed gene: CFI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CFH Tracy Briggs reviewed gene: CFH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CFD Tracy Briggs reviewed gene: CFD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CFB Tracy Briggs reviewed gene: CFB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CEBPE Tracy Briggs reviewed gene: CEBPE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CDCA7 Tracy Briggs reviewed gene: CDCA7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD79B Tracy Briggs commented on gene: CD79B: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD79A Tracy Briggs commented on gene: CD79A: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD70 Tracy Briggs reviewed gene: CD70: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD59 Tracy Briggs reviewed gene: CD59: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD55 Tracy Briggs reviewed gene: CD55: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD46 Tracy Briggs reviewed gene: CD46: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD40LG Tracy Briggs reviewed gene: CD40LG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD40 Tracy Briggs reviewed gene: CD40: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD3G Tracy Briggs reviewed gene: CD3G: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD3E Tracy Briggs commented on gene: CD3E: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD3D Tracy Briggs commented on gene: CD3D: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD27 Tracy Briggs reviewed gene: CD27: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD19 Tracy Briggs reviewed gene: CD19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CCBE1 Tracy Briggs reviewed gene: CCBE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CASP8 Tracy Briggs reviewed gene: CASP8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CASP10 Tracy Briggs reviewed gene: CASP10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CARMIL2 Tracy Briggs reviewed gene: CARMIL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CARD9 Tracy Briggs reviewed gene: CARD9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CARD14 Tracy Briggs reviewed gene: CARD14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CARD11 Tracy Briggs reviewed gene: CARD11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C9 Tracy Briggs reviewed gene: C9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C8B Tracy Briggs reviewed gene: C8B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C8A Tracy Briggs reviewed gene: C8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C7 Tracy Briggs reviewed gene: C7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C6 Tracy Briggs reviewed gene: C6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C5 Tracy Briggs reviewed gene: C5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C4B Tracy Briggs reviewed gene: C4B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C4A Tracy Briggs reviewed gene: C4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C3 Tracy Briggs reviewed gene: C3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C2 Tracy Briggs reviewed gene: C2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C1S Tracy Briggs reviewed gene: C1S: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C1R Tracy Briggs reviewed gene: C1R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C1QC Tracy Briggs reviewed gene: C1QC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C1QB Tracy Briggs reviewed gene: C1QB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C1QA Tracy Briggs reviewed gene: C1QA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 BTK Tracy Briggs commented on gene: BTK: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 BLNK Tracy Briggs reviewed gene: BLNK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 BLM Tracy Briggs reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 BACH2 Tracy Briggs reviewed gene: BACH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 B2M Tracy Briggs reviewed gene: B2M: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ATP6AP1 Tracy Briggs reviewed gene: ATP6AP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ATM Tracy Briggs reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ARPC1B Tracy Briggs reviewed gene: ARPC1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 AP3B1 Tracy Briggs reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 AK2 Tracy Briggs reviewed gene: AK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 AIRE Tracy Briggs reviewed gene: AIRE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 AICDA Tracy Briggs reviewed gene: AICDA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ADAR Tracy Briggs reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ADA2 Tracy Briggs reviewed gene: ADA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ADA Tracy Briggs commented on gene: ADA: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ACP5 Tracy Briggs reviewed gene: ACP5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ACD Tracy Briggs reviewed gene: ACD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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 v1.92 SH3BP2 Louise Daugherty Publications for gene: SH3BP2 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.91 SH3BP2 Louise Daugherty Phenotypes for gene: SH3BP2 were changed from to Cherubism 118400; Other autoinflammatory diseases with known genetic defect; Bone degeneration in jaws; Autoinflammatory Disorders
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 v1.89 RET Louise Daugherty Publications for gene: RET were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.88 RET Louise Daugherty Phenotypes for gene: RET were changed from to Central hypoventilation syndrome, congenital 209880
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 v1.86 RANBP2 Louise Daugherty Phenotypes for gene: RANBP2 were changed from to Fever induces acute encephalopathy; Defects in Intrinsic and Innate Immunity
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 v1.84 MBL2 Louise Daugherty Publications for gene: MBL2 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.83 MBL2 Louise Daugherty Phenotypes for gene: MBL2 were changed from to Mannose-Binding Protein Deficiency, 614372; Chronic infections, due to MBL deficiency; Mannose-binding lectin deficiency (MBL)
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 MBL2 Louise Daugherty reviewed gene: MBL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.81 MASP2 Louise Daugherty reviewed gene: MASP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
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 v1.80 MASP2 Louise Daugherty Publications for gene: MASP2 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.79 MASP2 Louise Daugherty Phenotypes for gene: MASP2 were changed from to MASP2 deficiency 613791; Mannan-binding lectin serine protease (MASP) deficiency; Pyogenic infections, inflammatory lung disease, autoimmunity; Complement Deficiencies
Primary immunodeficiency or monogenic inflammatory bowel disease v1.78 MASP2 Louise Daugherty Mode of inheritance for gene: MASP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v1.77 GTF2H5 Louise Daugherty reviewed gene: GTF2H5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.77 ERCC3 Louise Daugherty reviewed gene: ERCC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.77 ERCC2 Louise Daugherty reviewed gene: ERCC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.77 BLOC1S6 Louise Daugherty reviewed gene: BLOC1S6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.77 ERCC3 Louise Daugherty Phenotypes for gene: ERCC3 were changed from MASP2 deficiency 613791; Mannan-binding lectin serine protease (MASP) deficiency; Pyogenic infections, inflammatory lung disease, autoimmunity; Complement Deficiencies to none
Primary immunodeficiency or monogenic inflammatory bowel disease v1.76 ERCC3 Louise Daugherty Publications for gene: ERCC3 were set to 24658431
Primary immunodeficiency or monogenic inflammatory bowel disease v1.75 ERCC3 Louise Daugherty Publications for gene: ERCC3 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.74 ERCC3 Louise Daugherty Phenotypes for gene: ERCC3 were changed from to MASP2 deficiency 613791; Mannan-binding lectin serine protease (MASP) deficiency; Pyogenic infections, inflammatory lung disease, autoimmunity; Complement Deficiencies
Primary immunodeficiency or monogenic inflammatory bowel disease v1.73 ERCC3 Louise Daugherty Mode of inheritance for gene: ERCC3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v1.72 ERCC2 Louise Daugherty Publications for gene: ERCC2 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.71 ERCC2 Louise Daugherty Phenotypes for gene: ERCC2 were changed from to Combined immunodeficiency (CID) in a child affected by trichothiodystrophy (TTD); CD4 + lymphopenia
Primary immunodeficiency or monogenic inflammatory bowel disease v1.70 BLOC1S6 Louise Daugherty Publications for gene: BLOC1S6 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.69 BLOC1S6 Louise Daugherty Phenotypes for gene: BLOC1S6 were changed from to Hermansky-pudlak syndrome 9, 614171; HPS9, palladin deficiency (NK cell defect); Immune Dysregulation
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 v1.57 SAMD9L Louise Daugherty Added comment: Comment on publications: Added PMID: 28202457 Tesi et al, Gain of function SAMD9L muttaiosn caise a syndorme of cytopenaia, immunodefiency, MDS and neurological symptoms BLOOD, 2017, 2266-2279 suggested by Kimberly Gilmour (LNGLH) on behalf of the Specialist Test Group to support inclusion of this gene on the panel and a Amber rating.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.57 SAMD9L Louise Daugherty Publications for gene: SAMD9L were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.56 WDR1 Louise Daugherty Added comment: Comment on publications: Added PMID: 27557945 Kuhns, D et al Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiency BLOOD 2019, 2135-2143 suggested by Kimberly Gilmour (LNGLH) on behalf of the Specialist Test Group to support inclusion of this gene on the panel and a Amber rating.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.56 WDR1 Louise Daugherty Publications for gene: WDR1 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.55 PSMB9 Louise Daugherty changed review comment from: Comment on publications: PMID:26524591 suggested by Tracy Briggs (NWGLH) on behalf of The Specialist Test Group to support inclusion of this gene on the panel.; to: Comment on publications: PMID:26524591 suggested by Tracy Briggs (NWGLH) on behalf of the Specialist Test Group to support inclusion of this gene on the panel and a Green rating. Flagged for further discussion with the Specialist Test Group as conflicts with the Amber rating agreed in the webex 28th March 2019. Added digenic tag - from review comment 'Digenic also reported'.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.55 PSMB4 Louise Daugherty changed review comment from: added digenic tag - from review comment 'Digenic also reported' from NWGLH (Tracy Briggs); to: Review by Tracy Briggs (NWGLH) on behalf of the Specialist Test Group to support inclusion of this gene on the panel and a Green rating. Flagged for further discussion with the Specialist Test Group as conflicts with the Amber rating agreed in the webex 28th March 2019. Added digenic tag - from review comment 'Digenic also reported'.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.55 PSMA3 Louise Daugherty changed review comment from: Comment on publications: PMID:26524591 suggested by Tracy Briggs (NWGLH) on behalf of The Specialist Test Group to support inclusion of this gene on the panel.; to: Comment on publications: PMID:26524591 suggested by Tracy Briggs (NWGLH) on behalf of the Specialist Test Group to support inclusion of this gene on the panel and a Green rating. Flagged for further discussion with the Specialist Test Group as conflicts with the Amber rating agreed in the webex 28th March 2019
Primary immunodeficiency or monogenic inflammatory bowel disease v1.55 CARD14 Louise Daugherty commented on gene: CARD14: Review suggest from Tracy Briggs on behalf of North West GLH notes that Somatic mutations cause Ras-associated autoimmune leukoproliferative disorder (RALD)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.55 CARD14 Louise Daugherty Added comment: Comment on publications: Added publications 30248356; 29980436 suggested by Kimberly Gilmour (London North GLH) on behalf of The Specialist Test Group to support inclusion of this gene on the panel to support Green review. This gene needs discussing with The Immunology Specialist Test Group in view of dermatological presentation rather than immunological
Primary immunodeficiency or monogenic inflammatory bowel disease v1.55 CARD14 Louise Daugherty Publications for gene: CARD14 were set to 23648549; 22521418; 22703878; 23067081; 29704870; 29689250; 23711932
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 v1.54 TMEM173 Louise Daugherty commented on gene: TMEM173: Added new-gene-name tag, new approved HGNC gene symbol for TMEM173 is STING1
Primary immunodeficiency or monogenic inflammatory bowel disease v1.54 Louise Daugherty List of related panels changed from Primary immunodeficiency disorders; A- or hypo-gammaglobulinaemia; Congenital neutropaenia; Agranulocytosis; Combined B and T cell defect; Inherited complement deficiency; SCID; Primary immune disorder; Primary immunodeficiency; A-gammaglobulinaemia; Agammaglobulinaemia; hypo-gammaglobulinaemia; hypogammaglobulinemia; immune deficiency syndromes; Severe combined immunodeficiency; Congenital neutopenia; Familial haemophagocytic lymphohistiocytic disorders; Familial hemophagocytic lymphohistiocytic disorders; PID; Sepsis; Disseminated non-tuberculous mycobacterial infection to Primary immunodeficiency disorders; A- or hypo-gammaglobulinaemia; Congenital neutropaenia; Agranulocytosis; Combined B and T cell defect; Inherited complement deficiency; SCID; Primary immune disorder; Primary immunodeficiency; A-gammaglobulinaemia; Agammaglobulinaemia; hypo-gammaglobulinaemia; hypogammaglobulinemia; immune deficiency syndromes; Severe combined immunodeficiency; Congenital neutopenia; Familial haemophagocytic lymphohistiocytic disorders; Familial hemophagocytic lymphohistiocytic disorders; PID; Sepsis; Disseminated non-tuberculous mycobacterial infection; R15
Primary immunodeficiency or monogenic inflammatory bowel disease v1.53 RASGRP1 Louise Daugherty Added comment: Comment on publications: added further publications to further support gene-disease association
Primary immunodeficiency or monogenic inflammatory bowel disease v1.53 RASGRP1 Louise Daugherty Publications for gene: RASGRP1 were set to 30030704; 29282224
Primary immunodeficiency or monogenic inflammatory bowel disease v1.52 RASGRP1 Louise Daugherty Added comment: Comment on phenotypes: added OMIM MIM id
Primary immunodeficiency or monogenic inflammatory bowel disease v1.52 RASGRP1 Louise Daugherty Phenotypes for gene: RASGRP1 were changed from Recurrent pneumonia, herpesvirus infections, EBV associated lymphoma; Diseases of Immune Dysregulation; EBV-induced lymphoma; Immunodeficiency, to Recurrent pneumonia, herpesvirus infections, EBV associated lymphoma; Diseases of Immune Dysregulation; EBV-induced lymphoma; Immunodeficiency; Immunodeficiency 64, 618534
Primary immunodeficiency or monogenic inflammatory bowel disease v1.51 PTEN Louise Daugherty changed review comment from: Comment on list classification: Changed from Red to Amber. As discussed with the GMS Neurology Specialist Test Group webex call 28th March 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber- publication evidence supplied by expert; to: Comment on list classification: Changed from Red to Amber. As discussed with the GMS Immunology Specialist Test Group webex call 28th March 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber- publication evidence supplied by expert
Primary immunodeficiency or monogenic inflammatory bowel disease v1.51 USP18 Louise Daugherty changed review comment from: Comment on publications: Added publications PMID: 31272490, PMID:27325888 suggested by Tracy Briggs (NWGLH) on behalf of the Specialist Test Group to support inclusion of this gene on the panel and a Green rating. Flagged for further discussion with the Specialist Test Group as conflicts with the Amber rating agreed in the webex 28th March 2019; to: Comment on publications: Added publications PMID: 31272490, PMID:27325888 suggested by Tracy Briggs (NWGLH) on behalf of the Specialist Test Group to support inclusion of this gene on the panel and a Green rating. : five PTS patients from two unrelated families. Flagged for further discussion with the Specialist Test Group as conflicts with the Amber rating agreed in the webex 28th March 2019
Primary immunodeficiency or monogenic inflammatory bowel disease v1.51 USP18 Louise Daugherty changed review comment from: Comment on publications: Added publications PMID: 31272490, PMID:27325888 suggested by Tracy Briggs (NWGLH) on behalf of the Specialist Test Group to support inclusion of this gene on the panel and a Green rating. Flagged for further discussion with the Specialist Test Group; to: Comment on publications: Added publications PMID: 31272490, PMID:27325888 suggested by Tracy Briggs (NWGLH) on behalf of the Specialist Test Group to support inclusion of this gene on the panel and a Green rating. Flagged for further discussion with the Specialist Test Group as conflicts with the Amber rating agreed in the webex 28th March 2019
Primary immunodeficiency or monogenic inflammatory bowel disease v1.51 USP18 Louise Daugherty Phenotypes for gene: USP18 were changed from TORCH like syndrome; Autoinflammatory Disorders to TORCH like syndrome; Autoinflammatory Disorders; Pseudo-TORCH syndrome 2, 617397
Primary immunodeficiency or monogenic inflammatory bowel disease v1.50 USP18 Louise Daugherty Added comment: Comment on publications: Added publications PMID: 31272490, PMID:27325888 suggested by Tracy Briggs (NWGLH) on behalf of the Specialist Test Group to support inclusion of this gene on the panel and a Green rating. Flagged for further discussion with the Specialist Test Group
Primary immunodeficiency or monogenic inflammatory bowel disease v1.50 USP18 Louise Daugherty Publications for gene: USP18 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.49 PSMB9 Louise Daugherty Phenotypes for gene: PSMB9 were changed from CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome) to Autoinflammation, lipodystrophy, and dermatosis syndrome; CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.48 PSMB9 Louise Daugherty Added comment: Comment on publications: PMID:26524591 suggested by Tracy Briggs (NWGLH) on behalf of The Specialist Test Group to support inclusion of this gene on the panel.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.48 PSMB9 Louise Daugherty Publications for gene: PSMB9 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.47 PSMA3 Louise Daugherty Phenotypes for gene: PSMA3 were changed from to CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.46 PSMA3 Louise Daugherty Added comment: Comment on publications: PMID:26524591 suggested by Tracy Briggs (NWGLH) on behalf of The Specialist Test Group to support inclusion of this gene on the panel.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.46 PSMA3 Louise Daugherty Publications for gene: PSMA3 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.45 CTC1 Louise Daugherty Added comment: Comment on publications: PMID: 22267198 suggested by Tracy Briggs (NWGLH) on behalf of The Specialist Test Group to support rating of the gene to be Amber
Primary immunodeficiency or monogenic inflammatory bowel disease v1.45 CTC1 Louise Daugherty Added comment: Comment on publications: PMID: 22267198 suggested by Tracy Briggs (NWGLH) on behalf of The Specialist Test Group to support rating of the gene to be Amber
Primary immunodeficiency or monogenic inflammatory bowel disease v1.45 CTC1 Louise Daugherty Publications for gene: CTC1 were set to 22267198
Primary immunodeficiency or monogenic inflammatory bowel disease v1.45 CTC1 Louise Daugherty Publications for gene: CTC1 were set to 22267198
Primary immunodeficiency or monogenic inflammatory bowel disease v1.44 CTC1 Louise Daugherty Publications for gene: CTC1 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.43 PSMB4 Louise Daugherty changed review comment from: added digenic tag - from review comment 'Digenic also reported" from NWGLH (Tracy Briggs); to: added digenic tag - from review comment 'Digenic also reported' from NWGLH (Tracy Briggs)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.43 PSMB9 Louise Daugherty commented on gene: PSMB9: added digenic tag - from review comment 'Digenic also reported' from NWGLH (Tracy Briggs)
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 commented on gene: PSMB4: added digenic tag - from review comment 'Digenic also reported" from NWGLH (Tracy Briggs)
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 v1.43 PTEN Louise Daugherty Classified gene: PTEN as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.43 PTEN Louise Daugherty Added comment: Comment on list classification: Changed from Red to Amber. As discussed with the GMS Neurology Specialist Test Group webex call 28th March 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber- publication evidence supplied by expert
Primary immunodeficiency or monogenic inflammatory bowel disease v1.43 PTEN Louise Daugherty Gene: pten has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.42 PSMB4 Louise Daugherty Deleted their comment
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 Added comment: Comment on mode of inheritance: Changed MOI in view of IUIS data
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 v1.32 PTEN Louise Daugherty Added comment: Comment on publications: publication added to support upgrading gene- suggested by Sophie Hambleton in the GMS Immunological Specialist Test Group webex call 28th March 2019
Primary immunodeficiency or monogenic inflammatory bowel disease v1.32 PTEN Louise Daugherty Publications for gene: PTEN were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.31 HPS1 Louise Daugherty Publications for gene: HPS1 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.30 CFB Louise Daugherty Phenotypes for gene: CFB were changed from Complement factor B deficiency, 615561; Atypical Hemolytic-uremic syndrome; Infections with encapsulated organisms; Complement Deficiencies; Susceptibility to atypical haemolytic uraemic syndrome (4; AD); complement factor B deficiency (AR) to Complement factor B deficiency, 615561; Atypical Hemolytic-uremic syndrome; Infections with encapsulated organisms; Complement Deficiencies; Susceptibility to atypical haemolytic uraemic syndrome 4 (AD); complement factor B deficiency (AR)
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 v1.29 SKIV2L Ivone Leong commented on gene: SKIV2L
Primary immunodeficiency or monogenic inflammatory bowel disease v1.28 Ellen McDonagh Panel name changed from Primary immunodeficiency disorders to Primary immunodeficiency
List of related panels changed from A- or hypo-gammaglobulinaemia; Congenital neutropaenia; Agranulocytosis; Combined B and T cell defect; Inherited complement deficiency; SCID; Primary immune disorder; Primary immunodeficiency; A-gammaglobulinaemia; Agammaglobulinaemia; hypo-gammaglobulinaemia; hypogammaglobulinemia; immune deficiency syndromes; Severe combined immunodeficiency; Congenital neutopenia; Familial haemophagocytic lymphohistiocytic disorders; Familial hemophagocytic lymphohistiocytic disorders; PID; Sepsis; Disseminated non-tuberculous mycobacterial infection to Primary immunodeficiency disorders; A- or hypo-gammaglobulinaemia; Congenital neutropaenia; Agranulocytosis; Combined B and T cell defect; Inherited complement deficiency; SCID; Primary immune disorder; Primary immunodeficiency; A-gammaglobulinaemia; Agammaglobulinaemia; hypo-gammaglobulinaemia; hypogammaglobulinemia; immune deficiency syndromes; Severe combined immunodeficiency; Congenital neutopenia; Familial haemophagocytic lymphohistiocytic disorders; Familial hemophagocytic lymphohistiocytic disorders; PID; Sepsis; Disseminated non-tuberculous mycobacterial infection
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Primary immunodeficiency or monogenic inflammatory bowel disease v1.27 SPPL2A Louise Daugherty Classified gene: SPPL2A as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.27 SPPL2A Louise Daugherty Added comment: Comment on list classification: New gene recommended by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green
Primary immunodeficiency or monogenic inflammatory bowel disease v1.27 SPPL2A Louise Daugherty Gene: sppl2a has been classified as Green List (High Evidence).
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 v1.25 Louise Daugherty List of related panels changed from A- or hypo-gammaglobulinaemia; Congenital neutropaenia; Agranulocytosis; Combined B and T cell defect; Inherited complement deficiency; SCID; Primary immune disorder; Primary immunodeficiency; A-gammaglobulinaemia; Agammaglobulinaemia; hypo-gammaglobulinaemia; hypogammaglobulinemia; immune deficiency syndromes; Severe combined immunodeficiency; Congenital neutopenia; Familial haemophagocytic lymphohistiocytic disorders; Familial hemophagocytic lymphohistiocytic disorders; PID; Sepsis to A- or hypo-gammaglobulinaemia; Congenital neutropaenia; Agranulocytosis; Combined B and T cell defect; Inherited complement deficiency; SCID; Primary immune disorder; Primary immunodeficiency; A-gammaglobulinaemia; Agammaglobulinaemia; hypo-gammaglobulinaemia; hypogammaglobulinemia; immune deficiency syndromes; Severe combined immunodeficiency; Congenital neutopenia; Familial haemophagocytic lymphohistiocytic disorders; Familial hemophagocytic lymphohistiocytic disorders; PID; Sepsis; Disseminated non-tuberculous mycobacterial infection
Primary immunodeficiency or monogenic inflammatory bowel disease v1.24 IFNGR2 Louise Daugherty Added comment: Comment on publications: Added publication PMID:30264912 as suggested by external review (pers comm.) Vanessa Sancho Shimizu (Imperial College London) to support mode of inheritance change to reflect both biallelic and monoallelic.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.24 IFNGR2 Louise Daugherty Publications for gene: IFNGR2 were set to 9616207; 15924140; 18625743
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 v1.22 IKBKB Zornitza Stark reviewed gene: IKBKB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30337470; Phenotypes: combined immune deficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v1.22 Ellen McDonagh List of related panels changed from A- or hypo-gammaglobulinaemia; Congenital neutropaenia; Agranulocytosis; Combined B and T cell defect; Inherited complement deficiency; SCID; Primary immune disorder; Primary immunodeficiency; A-gammaglobulinaemia; Agammaglobulinaemia; hypo-gammaglobulinaemia; hypogammaglobulinemia; immune deficiency syndromes; Severe combined immunodeficiency; Congenital neutopenia; Familial haemophagocytic lymphohistiocytic disorders; Familial hemophagocytic lymphohistiocytic disorders; PID to A- or hypo-gammaglobulinaemia; Congenital neutropaenia; Agranulocytosis; Combined B and T cell defect; Inherited complement deficiency; SCID; Primary immune disorder; Primary immunodeficiency; A-gammaglobulinaemia; Agammaglobulinaemia; hypo-gammaglobulinaemia; hypogammaglobulinemia; immune deficiency syndromes; Severe combined immunodeficiency; Congenital neutopenia; Familial haemophagocytic lymphohistiocytic disorders; Familial hemophagocytic lymphohistiocytic disorders; PID; Sepsis
Primary immunodeficiency or monogenic inflammatory bowel disease v1.21 RAC2 Louise Daugherty commented on gene: RAC2: Added watch list tag. Decided to leave the rating for this gene as Amber, this is borderline, as the Invitae reported variant would make a second case, there is not enough supporting evidence
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 Louise Daugherty commented on gene: NFAT5: watch tag added - there is supportive evidence in terms of cellular studies in mice that partially reproduce the immune phenotype with haploinsufficiency of this gene, Watchlist tag added in relation for further evidence of CNV / SNVs to promote it to green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.20 NFAT5 Sarah Leigh Classified gene: NFAT5 as Red List (low evidence)
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 v1.20 NFAT5 Sarah Leigh Gene: nfat5 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.19 NFAT5 Louise Daugherty edited their review of gene: NFAT5: Changed rating: RED
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 RAC2 Louise Daugherty commented on gene: RAC2: PMID: 10961859 reported functional studies demonstrating that the D57N mutant behaves in a dominant-negative fashion at the cellular level.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.19 FCN3 Louise Daugherty edited their review of gene: FCN3: Added comment: Zornitza Stark (VCGS) , pers. comm. notes there are multiple cases reported, but single variant, and rates the gene Green. However, as highlighted by previous expert review it is not suitable for straightforward diagnostic reporting process, futher evidence is needed since the consequences of FCN3 deficiency do not seem to be not clear-cut, and it has been suggested that it may act as a disease modifier.; Changed rating: RED
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 v1.19 CARD14 Louise Daugherty Phenotypes for gene: CARD14 were changed from CARD14 mediated psoriasis; Psoriasis 2, 602723; Pityriasis rubra pilaris,173200; Other autoinflammatory diseases with known genetic defect; Psoriasis; Autoinflammatory Disorders to CARD14 mediated psoriasis; Psoriasis 2, 602723; Pityriasis rubra pilaris,173200; Other autoinflammatory diseases with known genetic defect; Psoriasis; Autoinflammatory Disorders; immune dysregulation
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 v1.18 CARD14 Louise Daugherty Publications for gene: CARD14 were set to 23648549; 22521418; 22703878; 23067081; 29704870; 29689250
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 v1.17 RIPK1 Louise Daugherty Classified gene: RIPK1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.17 RIPK1 Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green
Primary immunodeficiency or monogenic inflammatory bowel disease v1.17 RIPK1 Louise Daugherty Gene: ripk1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.16 RIPK1 Louise Daugherty edited their review of gene: RIPK1: Added comment: From OMIM : Lourenco et al. (2018) PMID: 30026316 reports 4 patients from 3 unrelated consanguineous families with immunodeficiency-57 identifying homozygous loss-of-function mutations in the RIPK1 gene. The variants segregated with the disorder in the families and were not found in the gnomAD database. Functional studies of patient cells showed impaired mitogen-activated protein kinase activation, impaired phosphorylation of downstream signaling molecules, impaired proinflammatory signaling downstream of TNFR1 and TLR3 and defective secretion of certain cytokines. Similar results were observed in vitro in a monocyte-like cell line with CRISPR/Cas9-mediated knockdown of RAPK1. The findings indicated that RIPK1 plays a critical role in the human immune system.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.16 RIPK1 Louise Daugherty Added comment: Comment on phenotypes: added OMIM MIMid.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.16 RIPK1 Louise Daugherty Phenotypes for gene: RIPK1 were changed from Severe immunodeficiency, arthritis, and intestinal inflammation to Immunodeficiency 57, 618108; Severe immunodeficiency, arthritis, and intestinal inflammation
Primary immunodeficiency or monogenic inflammatory bowel disease v1.15 RIPK1 Louise Daugherty Added comment: Comment on publications: PMID:30026316 reported four patients from three unrelated families with complete RIPK1deficiency caused by rare homozygous mutations. The patients suffered from recurrent infections, early-onset inflammatory bowel disease, and progressive polyarthritis.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.15 RIPK1 Louise Daugherty Publications for gene: RIPK1 were set to 30026316
Primary immunodeficiency or monogenic inflammatory bowel disease v1.14 RIPK1 Louise Daugherty Added comment: Comment on publications: DOI: 10.1126/science.aar2641 = PMID: 30026316
Primary immunodeficiency or monogenic inflammatory bowel disease v1.14 RIPK1 Louise Daugherty Publications for gene: RIPK1 were set to DOI: 10.1126/science.aar2641, no PMID yet
Primary immunodeficiency or monogenic inflammatory bowel disease v1.13 RASGRP1 Louise Daugherty Classified gene: RASGRP1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.13 RASGRP1 Louise Daugherty Added comment: Comment on list classification: Changed status from Red to Green from external review and reference to two recent publications, Somekh I et al., PMID: 30030704 (2018) and Winter S et al., PMID: 29282224, there are more than three unrelated families described with immunodeficiency phenotype.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.13 RASGRP1 Louise Daugherty Gene: rasgrp1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.12 RASGRP1 Louise Daugherty Added comment: Comment on phenotypes: added phenotypes suggested by external reviewer
Primary immunodeficiency or monogenic inflammatory bowel disease v1.12 RASGRP1 Louise Daugherty Phenotypes for gene: RASGRP1 were changed from Recurrent pneumonia, herpesvirus infections, EBV associated lymphoma; Diseases of Immune Dysregulation to Recurrent pneumonia, herpesvirus infections, EBV associated lymphoma; Diseases of Immune Dysregulation; EBV-induced lymphoma; Immunodeficiency,
Primary immunodeficiency or monogenic inflammatory bowel disease v1.11 RASGRP1 Louise Daugherty Added comment: Comment on publications: Added publications suggested by external reviewer to support upgrading of the gene to Green
Primary immunodeficiency or monogenic inflammatory bowel disease v1.11 RASGRP1 Louise Daugherty Publications for gene: RASGRP1 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.10 RASGRP1 Louise Daugherty Added comment: Comment on mode of inheritance: added MOI suggested by external reviewer and from publications
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 v1.9 NFAT5 Sarah Leigh Classified gene: NFAT5 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.9 NFAT5 Sarah Leigh Gene: nfat5 has been classified as Amber List (Moderate Evidence).
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 RASGRP1 Zornitza Stark reviewed gene: RASGRP1
Primary immunodeficiency or monogenic inflammatory bowel disease RMRP Louise Daugherty commented on gene: RMRP
Primary immunodeficiency or monogenic inflammatory bowel disease RMRP Louise Daugherty commented on gene: RMRP
Primary immunodeficiency or monogenic inflammatory bowel disease RIPK1 Zornitza Stark Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease CEBPE Louise Daugherty edited their review of gene: CEBPE
Primary immunodeficiency or monogenic inflammatory bowel disease TNFRSF13B Zornitza Stark reviewed gene: TNFRSF13B
Primary immunodeficiency or monogenic inflammatory bowel disease NCF4 Louise Daugherty edited their review of gene: NCF4
Primary immunodeficiency or monogenic inflammatory bowel disease NCF4 Louise Daugherty classified NCF4 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease NCF4 Zornitza Stark reviewed gene: NCF4
Primary immunodeficiency or monogenic inflammatory bowel disease FCGR3A Zornitza Stark reviewed gene: FCGR3A
Primary immunodeficiency or monogenic inflammatory bowel disease Louise Daugherty promoted panel to version 1.0
Primary immunodeficiency or monogenic inflammatory bowel disease STAT5B Louise Daugherty marked gene: STAT5B as ready
Primary immunodeficiency or monogenic inflammatory bowel disease STAT5B Louise Daugherty commented on gene: STAT5B
Primary immunodeficiency or monogenic inflammatory bowel disease FPR1 Louise Daugherty marked gene: FPR1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease FPR1 Louise Daugherty commented on gene: FPR1
Primary immunodeficiency or monogenic inflammatory bowel disease FCGR3A Louise Daugherty marked gene: FCGR3A as ready
Primary immunodeficiency or monogenic inflammatory bowel disease FCGR3A Louise Daugherty commented on gene: FCGR3A
Primary immunodeficiency or monogenic inflammatory bowel disease NOP10 Louise Daugherty marked gene: NOP10 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease NOP10 Louise Daugherty commented on gene: NOP10
Primary immunodeficiency or monogenic inflammatory bowel disease CFB Louise Daugherty marked gene: CFB as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CFB Louise Daugherty commented on gene: CFB
Primary immunodeficiency or monogenic inflammatory bowel disease LAT Louise Daugherty edited their review of gene: LAT
Primary immunodeficiency or monogenic inflammatory bowel disease LAT Louise Daugherty classified LAT as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease RAC2 Louise Daugherty marked gene: RAC2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease RAC2 Louise Daugherty commented on gene: RAC2
Primary immunodeficiency or monogenic inflammatory bowel disease NCSTN Louise Daugherty commented on gene: NCSTN
Primary immunodeficiency or monogenic inflammatory bowel disease STIM1 Louise Daugherty commented on gene: STIM1
Primary immunodeficiency or monogenic inflammatory bowel disease ORAI1 Louise Daugherty commented on gene: ORAI1
Primary immunodeficiency or monogenic inflammatory bowel disease TRAC Louise Daugherty marked gene: TRAC as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CEBPE Louise Daugherty marked gene: CEBPE as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CEBPE Louise Daugherty classified CEBPE as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease CEBPE Zornitza Stark reviewed gene: CEBPE
Primary immunodeficiency or monogenic inflammatory bowel disease CD247 Zornitza Stark reviewed gene: CD247
Primary immunodeficiency or monogenic inflammatory bowel disease SEMA3E Louise Daugherty edited their review of gene: SEMA3E
Primary immunodeficiency or monogenic inflammatory bowel disease FCGR3B Louise Daugherty classified FCGR3B as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease FCGR3B Louise Daugherty classified FCGR3B as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TERC Louise Daugherty commented on gene: TERC
Primary immunodeficiency or monogenic inflammatory bowel disease TBX1 Louise Daugherty marked gene: TBX1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CR2 Louise Daugherty marked gene: CR2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease NCSTN Louise Daugherty commented on gene: NCSTN
Primary immunodeficiency or monogenic inflammatory bowel disease MBL2 Louise Daugherty marked gene: MBL2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease MBL2 Louise Daugherty commented on gene: MBL2
Primary immunodeficiency or monogenic inflammatory bowel disease MBL2 Louise Daugherty commented on gene: MBL2
Primary immunodeficiency or monogenic inflammatory bowel disease NCSTN Louise Daugherty marked gene: NCSTN as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CFTR Louise Daugherty marked gene: CFTR as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CFTR Louise Daugherty edited their review of gene: CFTR
Primary immunodeficiency or monogenic inflammatory bowel disease NCF4 Louise Daugherty marked gene: NCF4 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease NCF4 Louise Daugherty commented on gene: NCF4
Primary immunodeficiency or monogenic inflammatory bowel disease SH3BP2 Louise Daugherty classified SH3BP2 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease SH3BP2 Louise Daugherty classified SH3BP2 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease SH3BP2 Louise Daugherty edited their review of gene: SH3BP2
Primary immunodeficiency or monogenic inflammatory bowel disease DNASE1L3 Louise Daugherty marked gene: DNASE1L3 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease DNASE1L3 Louise Daugherty classified DNASE1L3 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease ICOS Louise Daugherty marked gene: ICOS as ready
Primary immunodeficiency or monogenic inflammatory bowel disease NSMCE3 Louise Daugherty marked gene: NSMCE3 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease NSMCE3 Louise Daugherty classified NSMCE3 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease NSMCE3 Louise Daugherty classified NSMCE3 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease PEPD Louise Daugherty marked gene: PEPD as ready
Primary immunodeficiency or monogenic inflammatory bowel disease PEPD Louise Daugherty classified PEPD as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease NRAS Louise Daugherty marked gene: NRAS as ready
Primary immunodeficiency or monogenic inflammatory bowel disease PSENEN Louise Daugherty marked gene: PSENEN as ready
Primary immunodeficiency or monogenic inflammatory bowel disease PSENEN Louise Daugherty commented on gene: PSENEN
Primary immunodeficiency or monogenic inflammatory bowel disease PSEN1 Louise Daugherty marked gene: PSEN1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease PSEN1 Louise Daugherty commented on gene: PSEN1
Primary immunodeficiency or monogenic inflammatory bowel disease POLE2 Louise Daugherty marked gene: POLE2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease POLA1 Louise Daugherty marked gene: POLA1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease PLEKHM1 Louise Daugherty marked gene: PLEKHM1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease OSTM1 Louise Daugherty marked gene: OSTM1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease NLRP1 Louise Daugherty marked gene: NLRP1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease NCSTN Louise Daugherty classified NCSTN as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease NBAS Louise Daugherty marked gene: NBAS as ready
Primary immunodeficiency or monogenic inflammatory bowel disease MKL1 Louise Daugherty marked gene: MKL1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease KMT2D Louise Daugherty marked gene: KMT2D as ready
Primary immunodeficiency or monogenic inflammatory bowel disease KDM6A Louise Daugherty marked gene: KDM6A as ready
Primary immunodeficiency or monogenic inflammatory bowel disease JAK1 Louise Daugherty marked gene: JAK1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease IRF2BP2 Louise Daugherty marked gene: IRF2BP2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease IRAK1 Louise Daugherty marked gene: IRAK1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease IFNAR2 Louise Daugherty marked gene: IFNAR2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease HYOU1 Louise Daugherty marked gene: HYOU1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease HPS6 Louise Daugherty marked gene: HPS6 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease HPS4 Louise Daugherty marked gene: HPS4 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease HPS1 Louise Daugherty marked gene: HPS1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease HMOX1 Louise Daugherty marked gene: HMOX1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease GUCY2C Louise Daugherty marked gene: GUCY2C as ready
Primary immunodeficiency or monogenic inflammatory bowel disease STN1 Louise Daugherty commented on gene: STN1
Primary immunodeficiency or monogenic inflammatory bowel disease SRP54 Louise Daugherty commented on gene: SRP54
Primary immunodeficiency or monogenic inflammatory bowel disease SNX10 Louise Daugherty commented on gene: SNX10
Primary immunodeficiency or monogenic inflammatory bowel disease SMARCD2 Louise Daugherty commented on gene: SMARCD2
Primary immunodeficiency or monogenic inflammatory bowel disease SAMD9L Louise Daugherty commented on gene: SAMD9L
Primary immunodeficiency or monogenic inflammatory bowel disease RNU4ATAC Louise Daugherty commented on gene: RNU4ATAC
Primary immunodeficiency or monogenic inflammatory bowel disease RASGRP1 Louise Daugherty commented on gene: RASGRP1
Primary immunodeficiency or monogenic inflammatory bowel disease RANBP2 Louise Daugherty commented on gene: RANBP2
Primary immunodeficiency or monogenic inflammatory bowel disease PTEN Louise Daugherty commented on gene: PTEN
Primary immunodeficiency or monogenic inflammatory bowel disease PLEKHM1 Louise Daugherty commented on gene: PLEKHM1
Primary immunodeficiency or monogenic inflammatory bowel disease PEPD Louise Daugherty commented on gene: PEPD
Primary immunodeficiency or monogenic inflammatory bowel disease OSTM1 Louise Daugherty commented on gene: OSTM1
Primary immunodeficiency or monogenic inflammatory bowel disease NSMCE3 Louise Daugherty commented on gene: NSMCE3
Primary immunodeficiency or monogenic inflammatory bowel disease NLRP1 Louise Daugherty commented on gene: NLRP1
Primary immunodeficiency or monogenic inflammatory bowel disease NCSTN Louise Daugherty commented on gene: NCSTN
Primary immunodeficiency or monogenic inflammatory bowel disease NBAS Louise Daugherty commented on gene: NBAS
Primary immunodeficiency or monogenic inflammatory bowel disease KMT2D Louise Daugherty commented on gene: KMT2D
Primary immunodeficiency or monogenic inflammatory bowel disease KDM6A Louise Daugherty commented on gene: KDM6A
Primary immunodeficiency or monogenic inflammatory bowel disease IRF2BP2 Louise Daugherty commented on gene: IRF2BP2
Primary immunodeficiency or monogenic inflammatory bowel disease IRAK1 Louise Daugherty commented on gene: IRAK1
Primary immunodeficiency or monogenic inflammatory bowel disease IFNAR2 Louise Daugherty commented on gene: IFNAR2
Primary immunodeficiency or monogenic inflammatory bowel disease HYOU1 Louise Daugherty commented on gene: HYOU1
Primary immunodeficiency or monogenic inflammatory bowel disease TCIRG1 Louise Daugherty commented on gene: TCIRG1
Primary immunodeficiency or monogenic inflammatory bowel disease TFRC Louise Daugherty commented on gene: TFRC
Primary immunodeficiency or monogenic inflammatory bowel disease TNFRSF11A Louise Daugherty commented on gene: TNFRSF11A
Primary immunodeficiency or monogenic inflammatory bowel disease TNFSF11 Louise Daugherty commented on gene: TNFSF11
Primary immunodeficiency or monogenic inflammatory bowel disease USP18 Louise Daugherty commented on gene: USP18
Primary immunodeficiency or monogenic inflammatory bowel disease WDR1 Louise Daugherty commented on gene: WDR1
Primary immunodeficiency or monogenic inflammatory bowel disease WRAP53 Louise Daugherty commented on gene: WRAP53
Primary immunodeficiency or monogenic inflammatory bowel disease HMOX1 Louise Daugherty commented on gene: HMOX1
Primary immunodeficiency or monogenic inflammatory bowel disease ATP6AP1 Louise Daugherty edited their review of gene: ATP6AP1
Primary immunodeficiency or monogenic inflammatory bowel disease ATP6AP1 Louise Daugherty commented on gene: ATP6AP1
Primary immunodeficiency or monogenic inflammatory bowel disease CFTR Louise Daugherty commented on gene: CFTR
Primary immunodeficiency or monogenic inflammatory bowel disease CLCN7 Louise Daugherty commented on gene: CLCN7
Primary immunodeficiency or monogenic inflammatory bowel disease CSF2RB Louise Daugherty commented on gene: CSF2RB
Primary immunodeficiency or monogenic inflammatory bowel disease IRF3 Louise Daugherty reviewed gene: IRF3
Primary immunodeficiency or monogenic inflammatory bowel disease FAAP24 Louise Daugherty marked gene: FAAP24 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease FAAP24 Louise Daugherty commented on gene: FAAP24
Primary immunodeficiency or monogenic inflammatory bowel disease ERCC6L2 Louise Daugherty marked gene: ERCC6L2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease ERCC6L2 Louise Daugherty classified ERCC6L2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease ERCC6L2 Louise Daugherty classified ERCC6L2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease ERCC6L2 Louise Daugherty commented on gene: ERCC6L2
Primary immunodeficiency or monogenic inflammatory bowel disease CFTR Helen Brittain classified CFTR as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease CFTR Helen Brittain reviewed gene: CFTR
Primary immunodeficiency or monogenic inflammatory bowel disease DNASE2 Louise Daugherty marked gene: DNASE2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease DNASE2 Louise Daugherty classified DNASE2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease DNASE2 Louise Daugherty classified DNASE2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease DNASE2 Louise Daugherty classified DNASE2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease DNASE2 Louise Daugherty commented on gene: DNASE2
Primary immunodeficiency or monogenic inflammatory bowel disease DNASE1L3 Louise Daugherty commented on gene: DNASE1L3
Primary immunodeficiency or monogenic inflammatory bowel disease DNASE1L3 Louise Daugherty classified DNASE1L3 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease DNASE1L3 Louise Daugherty commented on gene: DNASE1L3
Primary immunodeficiency or monogenic inflammatory bowel disease DNASE1L3 Louise Daugherty commented on gene: DNASE1L3
Primary immunodeficiency or monogenic inflammatory bowel disease DNASE1L3 Louise Daugherty commented on gene: DNASE1L3
Primary immunodeficiency or monogenic inflammatory bowel disease SAMD9 Louise Daugherty marked gene: SAMD9 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease SAMD9 Louise Daugherty classified SAMD9 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease SAMD9 Louise Daugherty commented on gene: SAMD9
Primary immunodeficiency or monogenic inflammatory bowel disease DNAJC21 Louise Daugherty marked gene: DNAJC21 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease DNAJC21 Louise Daugherty classified DNAJC21 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease DNAJC21 Louise Daugherty commented on gene: DNAJC21
Primary immunodeficiency or monogenic inflammatory bowel disease IRF3 Louise Daugherty marked gene: IRF3 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CTC1 Louise Daugherty marked gene: CTC1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CTC1 Louise Daugherty commented on gene: CTC1
Primary immunodeficiency or monogenic inflammatory bowel disease IRF3 Louise Daugherty classified IRF3 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease CSF2RB Louise Daugherty marked gene: CSF2RB as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CSF2RB Louise Daugherty classified CSF2RB as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease CLCN7 Louise Daugherty marked gene: CLCN7 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease ATP6AP1 Louise Daugherty marked gene: ATP6AP1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease ATP6AP1 Louise Daugherty classified ATP6AP1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease ATP6AP1 Louise Daugherty edited their review of gene: ATP6AP1
Primary immunodeficiency or monogenic inflammatory bowel disease ATP6AP1 Louise Daugherty commented on gene: ATP6AP1
Primary immunodeficiency or monogenic inflammatory bowel disease BCL11B Louise Daugherty marked gene: BCL11B as ready
Primary immunodeficiency or monogenic inflammatory bowel disease BCL11B Louise Daugherty commented on gene: BCL11B
Primary immunodeficiency or monogenic inflammatory bowel disease BACH2 Louise Daugherty marked gene: BACH2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease BACH2 Louise Daugherty classified BACH2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease UNC93B1 Louise Daugherty marked gene: UNC93B1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease TYK2 Louise Daugherty marked gene: TYK2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease WIPF1 Louise Daugherty marked gene: WIPF1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease WIPF1 Louise Daugherty commented on gene: WIPF1
Primary immunodeficiency or monogenic inflammatory bowel disease WIPF1 Louise Daugherty classified WIPF1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease WIPF1 Louise Daugherty edited their review of gene: WIPF1
Primary immunodeficiency or monogenic inflammatory bowel disease UNC119 Louise Daugherty marked gene: UNC119 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease UNC119 Louise Daugherty classified UNC119 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease PSENEN Eleanor Williams classified PSENEN as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TNFRSF13B Eleanor Williams classified TNFRSF13B as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease POLA1 Eleanor Williams classified POLA1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease POLA1 Eleanor Williams commented on gene: POLA1
Primary immunodeficiency or monogenic inflammatory bowel disease POLE2 Eleanor Williams commented on gene: POLE2
Primary immunodeficiency or monogenic inflammatory bowel disease PSEN1 Eleanor Williams commented on gene: PSEN1
Primary immunodeficiency or monogenic inflammatory bowel disease PSENEN Eleanor Williams commented on gene: PSENEN
Primary immunodeficiency or monogenic inflammatory bowel disease PSENEN Eleanor Williams commented on gene: PSENEN
Primary immunodeficiency or monogenic inflammatory bowel disease TRAF3IP2 Louise Daugherty marked gene: TRAF3IP2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease TRAF3IP2 Louise Daugherty classified TRAF3IP2 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TRAF3 Louise Daugherty marked gene: TRAF3 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease TRAF3 Louise Daugherty classified TRAF3 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease ACD Louise Daugherty commented on gene: ACD
Primary immunodeficiency or monogenic inflammatory bowel disease TNFSF12 Louise Daugherty marked gene: TNFSF12 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease TNFSF12 Louise Daugherty classified TNFSF12 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TNFRSF4 Louise Daugherty marked gene: TNFRSF4 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease TNFRSF4 Louise Daugherty classified TNFRSF4 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TNFRSF13C Louise Daugherty marked gene: TNFRSF13C as ready
Primary immunodeficiency or monogenic inflammatory bowel disease TNFRSF13C Louise Daugherty commented on gene: TNFRSF13C
Primary immunodeficiency or monogenic inflammatory bowel disease TMEM173 Louise Daugherty marked gene: TMEM173 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease TMEM173 Louise Daugherty classified TMEM173 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TMEM173 Louise Daugherty edited their review of gene: TMEM173
Primary immunodeficiency or monogenic inflammatory bowel disease TMEM173 Louise Daugherty edited their review of gene: TMEM173
Primary immunodeficiency or monogenic inflammatory bowel disease TINF2 Louise Daugherty marked gene: TINF2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease TINF2 Louise Daugherty commented on gene: TINF2
Primary immunodeficiency or monogenic inflammatory bowel disease THBD Louise Daugherty edited their review of gene: THBD
Primary immunodeficiency or monogenic inflammatory bowel disease THBD Louise Daugherty marked gene: THBD as ready
Primary immunodeficiency or monogenic inflammatory bowel disease THBD Louise Daugherty classified THBD as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease THBD Louise Daugherty commented on gene: THBD
Primary immunodeficiency or monogenic inflammatory bowel disease TERT Louise Daugherty marked gene: TERT as ready
Primary immunodeficiency or monogenic inflammatory bowel disease TERC Louise Daugherty marked gene: TERC as ready
Primary immunodeficiency or monogenic inflammatory bowel disease TERC Louise Daugherty commented on gene: TERC
Primary immunodeficiency or monogenic inflammatory bowel disease TCF7L1 Louise Daugherty edited their review of gene: TCF7L1
Primary immunodeficiency or monogenic inflammatory bowel disease TCF7L1 Louise Daugherty classified TCF7L1 as No list
Primary immunodeficiency or monogenic inflammatory bowel disease TCF7L1 Louise Daugherty commented on gene: TCF7L1
Primary immunodeficiency or monogenic inflammatory bowel disease RNF31 Louise Daugherty marked gene: RNF31 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease TAPBP Louise Daugherty marked gene: TAPBP as ready
Primary immunodeficiency or monogenic inflammatory bowel disease TAPBP Louise Daugherty commented on gene: TAPBP
Primary immunodeficiency or monogenic inflammatory bowel disease STAT5A Louise Daugherty marked gene: STAT5A as ready
Primary immunodeficiency or monogenic inflammatory bowel disease STAT5A Louise Daugherty classified STAT5A as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease STAT5A Louise Daugherty edited their review of gene: STAT5A
Primary immunodeficiency or monogenic inflammatory bowel disease SH3BP2 Louise Daugherty marked gene: SH3BP2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease SH3BP2 Louise Daugherty commented on gene: SH3BP2
Primary immunodeficiency or monogenic inflammatory bowel disease SH3BP2 Louise Daugherty commented on gene: SH3BP2
Primary immunodeficiency or monogenic inflammatory bowel disease RNF31 Louise Daugherty classified RNF31 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease RNF31 Louise Daugherty commented on gene: RNF31
Primary immunodeficiency or monogenic inflammatory bowel disease RHOH Louise Daugherty marked gene: RHOH as ready
Primary immunodeficiency or monogenic inflammatory bowel disease RHOH Louise Daugherty commented on gene: RHOH
Primary immunodeficiency or monogenic inflammatory bowel disease RET Louise Daugherty marked gene: RET as ready
Primary immunodeficiency or monogenic inflammatory bowel disease RET Louise Daugherty classified RET as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease RBCK1 Louise Daugherty edited their review of gene: RBCK1
Primary immunodeficiency or monogenic inflammatory bowel disease RBCK1 Louise Daugherty marked gene: RBCK1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease RBCK1 Louise Daugherty classified RBCK1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease RBCK1 Louise Daugherty commented on gene: RBCK1
Primary immunodeficiency or monogenic inflammatory bowel disease PSMB9 Louise Daugherty marked gene: PSMB9 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease PSMB4 Louise Daugherty marked gene: PSMB4 as ready