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Inflammatory bowel disease v0.121 LIG4 Zornitza Stark Marked gene: LIG4 as ready
Inflammatory bowel disease v0.121 LIG4 Zornitza Stark Gene: lig4 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.121 LIG4 Zornitza Stark Publications for gene: LIG4 were set to
Inflammatory bowel disease v0.120 LIG4 Zornitza Stark Phenotypes for gene: LIG4 were changed from to LIG4 syndrome, MIM# 606593
Inflammatory bowel disease v0.119 LIG4 Zornitza Stark Mode of inheritance for gene: LIG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.118 LIG4 Santosh Varughese reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 16088910, 10911993, 15333585, 9809069, 12023982, 11040211; Phenotypes: LIG4 Syndrome, Multiple Myeloma, Resistance to; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.118 ELF4 Peter McNaughton gene: ELF4 was added
gene: ELF4 was added to Inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: ELF4 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: ELF4 were set to PMID: 38231408
Phenotypes for gene: ELF4 were set to Inflammatory bowel disease
Review for gene: ELF4 was set to GREEN
Added comment: Cohort of 14 patients from 13 families with many presenting with gastrointestinal inflammation and ulceration. Frequently patients had been labelled with IBD prior to diagnosis of ELF4.
Sources: Literature
Inflammatory bowel disease v0.118 ANKZF1 Zornitza Stark Publications for gene: ANKZF1 were set to 28302725
Inflammatory bowel disease v0.117 ANKZF1 Zornitza Stark Mode of inheritance for gene: ANKZF1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inflammatory bowel disease v0.116 ANKZF1 Zornitza Stark Classified gene: ANKZF1 as Green List (high evidence)
Inflammatory bowel disease v0.116 ANKZF1 Zornitza Stark Gene: ankzf1 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.115 CARD8 Zornitza Stark Classified gene: CARD8 as Amber List (moderate evidence)
Inflammatory bowel disease v0.115 CARD8 Zornitza Stark Gene: card8 has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.114 HSPA1L Zornitza Stark Marked gene: HSPA1L as ready
Inflammatory bowel disease v0.114 HSPA1L Zornitza Stark Gene: hspa1l has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.114 HSPA1L Zornitza Stark Classified gene: HSPA1L as Amber List (moderate evidence)
Inflammatory bowel disease v0.114 HSPA1L Zornitza Stark Gene: hspa1l has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.113 HSPA1L Zornitza Stark gene: HSPA1L was added
gene: HSPA1L was added to Inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: HSPA1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HSPA1L were set to 28126021
Phenotypes for gene: HSPA1L were set to inflammatory bowel disease, MONDO:0005265, HSPA1L-related
Review for gene: HSPA1L was set to AMBER
Added comment: PMID:28126021 reported the identification of a heterozygous de novo variant (p.Ser277Leu) in HSPA1L in a patient with inflammatory bowel disease. In addition, five additional rare HSPA1L variants (p.Gly77Ser, p.Leu172del, p.Thr267Ile, p.Ala268Thr, p.Glu558Asp) were identified in six patients from a cohort of 136 IBD patients with WES data. Functional studies showed that all six HSPA1L variant proteins showed decreased chaperone activity in vitro. Moreover, three variants demonstrated dominant negative effects on HSPA1L and HSPA1A protein activity.

However, the variants identified are present at relatively high frequencies in gnomad V4, in particular p.Thr267Ile is present in 281 individuals, and the p.Ala268Thr is present in 4,753 individuals.
Sources: Literature
Inflammatory bowel disease v0.112 CARD8 Achchuthan Shanmugasundram reviewed gene: CARD8: Rating: AMBER; Mode of pathogenicity: None; Publications: 37724393; Phenotypes: ?Inflammatory bowel disease (Crohn disease) 30, OMIM:619079; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inflammatory bowel disease v0.112 ANKZF1 Achchuthan Shanmugasundram reviewed gene: ANKZF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28302725, 36857589; Phenotypes: inflammatory bowel disease, MONDO:0005265; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inflammatory bowel disease v0.112 DUOX2 Zornitza Stark Mode of inheritance for gene: DUOX2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.111 DUOX2 Zornitza Stark Classified gene: DUOX2 as Green List (high evidence)
Inflammatory bowel disease v0.111 DUOX2 Zornitza Stark Gene: duox2 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.110 DUOX2 Peter McNaughton edited their review of gene: DUOX2: Added comment: 1mo girl with IBD and colonic polyps with compound het variants c.2524C>T and c.3175C>T with functional studies showing decreased H2O2 generation.
This case along with previous case reports - PMID: 28683258 & PMID: 35429653 suggest that biallelic DUOX2 variants should be part of evaluation for VEO-IBD.; Changed rating: GREEN; Changed publications: PMID: 38075699; Changed phenotypes: neonatal onset IBD
Inflammatory bowel disease v0.110 FMNL2 Zornitza Stark Marked gene: FMNL2 as ready
Inflammatory bowel disease v0.110 FMNL2 Zornitza Stark Gene: fmnl2 has been classified as Red List (Low Evidence).
Inflammatory bowel disease v0.110 FMNL2 Zornitza Stark gene: FMNL2 was added
gene: FMNL2 was added to Inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: FMNL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FMNL2 were set to 34043722
Phenotypes for gene: FMNL2 were set to inflammatory bowel disease, MONDO:0005265, FMNL2-related
Review for gene: FMNL2 was set to RED
Added comment: A patient was reported with a de novo heterozygous FMNL2 variant (p.Leu136Pro) and with severe very early onset inflammatory bowel disease (IBD). The functional characterisation of this variant showed that FMNL2 L136P protein displayed subcellular mislocalisation and deregulated protein autoinhibition indicating gain-of-function mechanism (PMID:34043722).
Sources: Literature
Inflammatory bowel disease v0.109 ANKZF1 Zornitza Stark Phenotypes for gene: ANKZF1 were changed from Infantile-onset inflammatory bowel disease to Infantile-onset inflammatory bowel disease, MONDO:0005265, ANKZF1-related
Inflammatory bowel disease v0.108 ALPI Zornitza Stark Phenotypes for gene: ALPI were changed from Inflammatory bowel disease to Inflammatory bowel disease, MONDO:0005265, ALPI-related
Inflammatory bowel disease v0.107 ALPI Zornitza Stark edited their review of gene: ALPI: Changed phenotypes: Inflammatory bowel disease, MONDO:0005265, ALPI-related
Inflammatory bowel disease v0.107 DOCK11 Zornitza Stark Marked gene: DOCK11 as ready
Inflammatory bowel disease v0.107 DOCK11 Zornitza Stark Gene: dock11 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.107 DOCK11 Zornitza Stark Phenotypes for gene: DOCK11 were changed from Inflammatory bowel disease to Autoimmune disease with immune dysregulation, X-linked (ADMIDX), MIM#301109; Inflammatory bowel disease
Inflammatory bowel disease v0.106 DOCK11 Zornitza Stark Classified gene: DOCK11 as Green List (high evidence)
Inflammatory bowel disease v0.106 DOCK11 Zornitza Stark Gene: dock11 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.105 DOCK11 Zornitza Stark reviewed gene: DOCK11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoimmune disease with immune dysregulation, X-linked (ADMIDX), MIM#301109; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Inflammatory bowel disease v0.105 DOCK11 Peter McNaughton gene: DOCK11 was added
gene: DOCK11 was added to Inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: DOCK11 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: DOCK11 were set to PMID: 37342957; PMID: 36952639
Phenotypes for gene: DOCK11 were set to Inflammatory bowel disease
Added comment: 12 patients across 2 studies described. Severe gastrointestinal disease was observed in most of the patients, manifested as ulcerative colitis-like or Crohn's disease-like inflammatory bowel disease, unspecified ileitis, and colitis. Oral and anal ulcerations or ileus affected 6 of the patients.
Sources: Literature
Inflammatory bowel disease v0.105 RELA Zornitza Stark changed review comment from: Additional 6 individuals from two families reported.; to: Additional 6 individuals from five families reported.
Inflammatory bowel disease v0.105 RELA Zornitza Stark Marked gene: RELA as ready
Inflammatory bowel disease v0.105 RELA Zornitza Stark Gene: rela has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.105 RELA Zornitza Stark Phenotypes for gene: RELA were changed from Inflammatory bowel disease to Mucocutaneous ulceration, chronic, MIM# 618287; Inflammatory bowel disease
Inflammatory bowel disease v0.104 RELA Zornitza Stark Classified gene: RELA as Green List (high evidence)
Inflammatory bowel disease v0.104 RELA Zornitza Stark Gene: rela has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.103 RELA Zornitza Stark edited their review of gene: RELA: Added comment: Additional 6 individuals from two families reported.; Changed rating: GREEN; Changed publications: 37273177
Inflammatory bowel disease v0.103 RELA Zornitza Stark reviewed gene: RELA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucocutaneous ulceration, chronic, MIM# 618287; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inflammatory bowel disease v0.103 RELA Peter McNaughton gene: RELA was added
gene: RELA was added to Inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: RELA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RELA were set to PMID: 37273177
Phenotypes for gene: RELA were set to Inflammatory bowel disease
Review for gene: RELA was set to GREEN
Added comment: Patients with RELA DN mutations additionally presented periodic fever, inflammatory bowel diseases (IBDs), juvenile idiopathic arthritis (JIA), and skin involvement. Complete penetrance was observed for IBD
Sources: Literature
Inflammatory bowel disease v0.103 SOCS1 Zornitza Stark Marked gene: SOCS1 as ready
Inflammatory bowel disease v0.103 SOCS1 Zornitza Stark Gene: socs1 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.103 SOCS1 Zornitza Stark Phenotypes for gene: SOCS1 were changed from Enteropathy to Autoinflammatory syndrome, familial, with or without immunodeficiency, MIM# 619375; Enteropathy
Inflammatory bowel disease v0.102 SOCS1 Zornitza Stark Classified gene: SOCS1 as Green List (high evidence)
Inflammatory bowel disease v0.102 SOCS1 Zornitza Stark Gene: socs1 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.101 SOCS1 Peter McNaughton gene: SOCS1 was added
gene: SOCS1 was added to Inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: SOCS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOCS1 were set to PMID: 37156989
Phenotypes for gene: SOCS1 were set to Enteropathy
Review for gene: SOCS1 was set to GREEN
Added comment: 2x patients 1x presenting with treatment refractory Crohn-like disease and 1 with lymphocytic leiomyositis. Potential for targeted therapies leading to remission so important to differentiate from polygenic IBD.
Sources: Literature
Inflammatory bowel disease v0.101 DKC1 Krithika Murali Classified gene: DKC1 as Green List (high evidence)
Inflammatory bowel disease v0.101 DKC1 Krithika Murali Gene: dkc1 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.100 DKC1 Krithika Murali reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32554502; Phenotypes: DKC1-related disorder - MONDO: 0100152; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Inflammatory bowel disease v0.100 C17orf62 Bryony Thompson Marked gene: C17orf62 as ready
Inflammatory bowel disease v0.100 C17orf62 Bryony Thompson Gene: c17orf62 has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.100 C17orf62 Bryony Thompson Classified gene: C17orf62 as Amber List (moderate evidence)
Inflammatory bowel disease v0.100 C17orf62 Bryony Thompson Gene: c17orf62 has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.99 C17orf62 Aimee Huynh gene: C17orf62 was added
gene: C17orf62 was added to Inflammatory bowel disease. Sources: Expert Review
Mode of inheritance for gene: C17orf62 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C17orf62 were set to 28600779, 30361506
Phenotypes for gene: C17orf62 were set to Chronic granulomatous disease
Penetrance for gene: C17orf62 were set to unknown
Review for gene: C17orf62 was set to AMBER
gene: C17orf62 was marked as current diagnostic
Added comment: Homozygous LOF mutation leading to CYBC1 deficiency causes CGD in pair of Icelandic brothers and 6 other individuals - colitis an early feature. Brothers diagnosed with Crohn's at ages 7 and 9 years. 3 out of 6 other individuals also had colitis.
Sources: Expert Review
Inflammatory bowel disease v0.99 IL2RB Zornitza Stark Marked gene: IL2RB as ready
Inflammatory bowel disease v0.99 IL2RB Zornitza Stark Gene: il2rb has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.99 IL2RB Zornitza Stark Phenotypes for gene: IL2RB were changed from immunodeficiency; autoimmune enteropathy to Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM# 618495
Inflammatory bowel disease v0.98 IL2RB Zornitza Stark Classified gene: IL2RB as Green List (high evidence)
Inflammatory bowel disease v0.98 IL2RB Zornitza Stark Gene: il2rb has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.97 IL2RB Zornitza Stark reviewed gene: IL2RB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM# 618495; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.97 IL21 Zornitza Stark Marked gene: IL21 as ready
Inflammatory bowel disease v0.97 IL21 Zornitza Stark Gene: il21 has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.97 IL21 Zornitza Stark Phenotypes for gene: IL21 were changed from immunodeficiency; inflammatory bowel disease to Immunodeficiency, common variable, 11, MIM# 615767
Inflammatory bowel disease v0.96 IL21 Zornitza Stark Classified gene: IL21 as Amber List (moderate evidence)
Inflammatory bowel disease v0.96 IL21 Zornitza Stark Gene: il21 has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.95 IL21 Zornitza Stark reviewed gene: IL21: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency, common variable, 11, MIM# 615767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.95 DKC1 Zornitza Stark Marked gene: DKC1 as ready
Inflammatory bowel disease v0.95 DKC1 Zornitza Stark Gene: dkc1 has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.95 DKC1 Zornitza Stark Phenotypes for gene: DKC1 were changed from Dyskeratosis congenita to Dyskeratosis congenita, X-linked, MIM# 305000
Inflammatory bowel disease v0.94 DKC1 Zornitza Stark Classified gene: DKC1 as Amber List (moderate evidence)
Inflammatory bowel disease v0.94 DKC1 Zornitza Stark Gene: dkc1 has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.93 DKC1 Zornitza Stark reviewed gene: DKC1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskeratosis congenita, X-linked, MIM# 305000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Inflammatory bowel disease v0.93 IL2RB Aimee Huynh gene: IL2RB was added
gene: IL2RB was added to Inflammatory bowel disease. Sources: Expert Review
Mode of inheritance for gene: IL2RB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL2RB were set to 31040184, 31040185
Phenotypes for gene: IL2RB were set to immunodeficiency; autoimmune enteropathy
Penetrance for gene: IL2RB were set to unknown
Review for gene: IL2RB was set to AMBER
gene: IL2RB was marked as current diagnostic
Added comment: 3 homozygous mutations in the IL2RB gene of 8 individuals from 4 consanguineous families that cause disease by distinct mechanisms. Nearly all patients presented with autoantibodies, hypergammaglobulinemia, bowel inflammation, dermatological abnormalities, lymphadenopathy, and CMV disease. 4/5 children had severe diarrhea and infectious/autoimmune enteropathy. Endoscopy of patient B1 showed villous atrophy, and gastrointestinal biopsies revealed chronic inflammatory infiltration of the duodenum and rectum.
Sources: Expert Review
Inflammatory bowel disease v0.93 IL21 Aimee Huynh gene: IL21 was added
gene: IL21 was added to Inflammatory bowel disease. Sources: Expert Review
Mode of inheritance for gene: IL21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL21 were set to 24746753
Phenotypes for gene: IL21 were set to immunodeficiency; inflammatory bowel disease
Penetrance for gene: IL21 were set to unknown
Review for gene: IL21 was set to AMBER
gene: IL21 was marked as current diagnostic
Added comment: IL-21 deficiency - a novel monogenetic cause of severe, early-onset IBD associated with a CVID-like primary immunodeficiency. One case of a turkish boy born to consanguinous parents, diagnosed with IBD in early years (diarrhea from 2 months of age, worsened over time, biopsy typical of Crohn's). This proband had 2 siblings who had early onset IBD before age 1 year and died.
Sources: Expert Review
Inflammatory bowel disease v0.93 DKC1 Chris Richmond gene: DKC1 was added
gene: DKC1 was added to Inflammatory bowel disease. Sources: Expert Review
Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: DKC1 were set to 21284747
Phenotypes for gene: DKC1 were set to Dyskeratosis congenita
Penetrance for gene: DKC1 were set to unknown
Review for gene: DKC1 was set to GREEN
gene: DKC1 was marked as current diagnostic
Added comment: 2 unrelated infants with infant-onset DKC - the most prominent clinical finding was the presence of a severe, chronic, non-infectious enteropathy leading to malabsorption and nutrient deficiencies . Histological abnormalities included inflammation and mucosal apoptosis (identical to gut GVHD) in the esophagus, small bowel, or colon. Phenotypic overlap with IBD. Review with Dr. Peter McNaughton (immunologist QCH).
Sources: Expert Review
Inflammatory bowel disease v0.93 NLRC4 Zornitza Stark Marked gene: NLRC4 as ready
Inflammatory bowel disease v0.93 NLRC4 Zornitza Stark Gene: nlrc4 has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.93 NLRC4 Zornitza Stark Phenotypes for gene: NLRC4 were changed from Infantile onset enterocolitis and autoinflammation to Autoinflammation with infantile enterocolitis, MIM# 616050
Inflammatory bowel disease v0.92 NLRC4 Zornitza Stark Publications for gene: NLRC4 were set to PMID: 25217960
Inflammatory bowel disease v0.91 NLRC4 Zornitza Stark edited their review of gene: NLRC4: Changed publications: 25217959, 25217960
Inflammatory bowel disease v0.91 NLRC4 Zornitza Stark edited their review of gene: NLRC4: Changed publications: 25217959
Inflammatory bowel disease v0.91 NLRC4 Zornitza Stark Classified gene: NLRC4 as Amber List (moderate evidence)
Inflammatory bowel disease v0.91 NLRC4 Zornitza Stark Gene: nlrc4 has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.90 NLRC4 Zornitza Stark reviewed gene: NLRC4: Rating: AMBER; Mode of pathogenicity: None; Publications: 25217960; Phenotypes: Autoinflammation with infantile enterocolitis 616050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inflammatory bowel disease v0.90 PMM2 Zornitza Stark Marked gene: PMM2 as ready
Inflammatory bowel disease v0.90 PMM2 Zornitza Stark Gene: pmm2 has been classified as Red List (Low Evidence).
Inflammatory bowel disease v0.90 PMM2 Zornitza Stark Phenotypes for gene: PMM2 were changed from Inflammatory bowel disease, hyperinsulinism, polycystic kidney disease to Congenital disorder of glycosylation, type Ia, MIM# 212065; Inflammatory bowel disease, hyperinsulinism, polycystic kidney disease
Inflammatory bowel disease v0.89 PMM2 Zornitza Stark Classified gene: PMM2 as Red List (low evidence)
Inflammatory bowel disease v0.89 PMM2 Zornitza Stark Gene: pmm2 has been classified as Red List (Low Evidence).
Inflammatory bowel disease v0.88 PMM2 Sarah Pantaleo gene: PMM2 was added
gene: PMM2 was added to Inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMM2 were set to 36773065
Phenotypes for gene: PMM2 were set to Inflammatory bowel disease, hyperinsulinism, polycystic kidney disease
Penetrance for gene: PMM2 were set to Incomplete
Review for gene: PMM2 was set to RED
Added comment: “A specific pattern of variation in PMM2 as a novel association of early-onset IBD with distinctive gastric pathology.”

Cohort of patients affected by hyperinsulinaemic hypoglycaemia and ARPKD with a specific underlying variant in the PMM2 promoter. Three of these patients additionally developed IBD in childhood and manifest a distinctive pattern of gastric antral disease involvement.

The authors describe the development of IBD in three patients with PMM2-HIPKD, with onset of IBD at 0, 6 and 10 years of age. IBD was of variable severity at onset. The organ level pattern of disease manifestations in PMM2-HIPKD-IBD may reflect a loss of cis-acting regulatory control by hepatocyte nuclear factor 4 alpha (HNF4A).

All three patients have the same genotype, two pathogenic variants (ClinVar): A promoter variant, c.-167G>T, in trans with c.422G>A; p.(Arg141His). The promoter region is not covered in gnomAD. c.422G>A is in gnomAD v2 891 hets, v3 557 hets.

Functional studies: Protein expression of PMM2 and HNF4A assessed by immunohistochemistry for two patients. Patient 1 there appeared to be reduced protein expression compared to the control, especially in the gastric antrum and colon, but for patient 2, the expression profile closely matched the control.

Observation of intestinal inflammation and gastric antral foveolar hyperplasia in three patients with identical pathogenic genetic variants in the PMM2 locus, from independent kindreds, extends the previously reported spectrum of PMM2-related HI/ARPKD disease. It identifies PMM2 as a potential novel Mendelian association of early-onset IBD. Estimate low penetrance of IBD of 10% based on 30 patients in the literature.
Sources: Literature
Inflammatory bowel disease v0.88 LY96 Zornitza Stark Marked gene: LY96 as ready
Inflammatory bowel disease v0.88 LY96 Zornitza Stark Gene: ly96 has been classified as Red List (Low Evidence).
Inflammatory bowel disease v0.88 LY96 Zornitza Stark Phenotypes for gene: LY96 were changed from Colitis to Inborn error of immunity, MONDO:0003778, LY96-related; Colitis
Inflammatory bowel disease v0.87 LY96 Zornitza Stark Classified gene: LY96 as Red List (low evidence)
Inflammatory bowel disease v0.87 LY96 Zornitza Stark Gene: ly96 has been classified as Red List (Low Evidence).
Inflammatory bowel disease v0.86 LY96 Zornitza Stark reviewed gene: LY96: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Inborn error of immunity, MONDO:0003778, LY96-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.86 LY96 Peter McNaughton gene: LY96 was added
gene: LY96 was added to Inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: LY96 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LY96 were set to PMID: 36462957
Phenotypes for gene: LY96 were set to Colitis
Review for gene: LY96 was set to RED
Added comment: Single patient with infantile colitis associated with failure-to-thrive, bloody diarrhea, and perianal abscesses since the age of 4 months. Later developed bronchiectasis and persistent pneumonia, which required lobectomy at the age of 6 years. Brother with same deletion presented with recurrent otitis media and pneumonia but exhibited no signs of intestinal inflammation.
Sources: Literature
Inflammatory bowel disease v0.86 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Inflammatory bowel disease v0.85 Zornitza Stark HPO terms changed from to Gastrointestinal inflammation, HP:0004386
List of related panels changed from to Gastrointestinal inflammation; HP:0004386
Inflammatory bowel disease v0.84 NLRC4 Peter McNaughton gene: NLRC4 was added
gene: NLRC4 was added to Inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: NLRC4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NLRC4 were set to PMID: 25217960
Phenotypes for gene: NLRC4 were set to Infantile onset enterocolitis and autoinflammation
Mode of pathogenicity for gene: NLRC4 was set to Other
Review for gene: NLRC4 was set to AMBER
Added comment: Infant presenting at 1 week of life with secretory diarrhea and fever with p.Val341Ala variant. Cellular model demonstrating gain of function
Sources: Literature
Inflammatory bowel disease v0.84 NOX1 Zornitza Stark Marked gene: NOX1 as ready
Inflammatory bowel disease v0.84 NOX1 Zornitza Stark Gene: nox1 has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.84 NOX1 Zornitza Stark Phenotypes for gene: NOX1 were changed from Inflammatory bowel disease to Inflammatory bowel disease, MONDO:0005265, NOX1-related
Inflammatory bowel disease v0.83 NOX1 Zornitza Stark edited their review of gene: NOX1: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Inflammatory bowel disease v0.83 NOX1 Zornitza Stark Classified gene: NOX1 as Amber List (moderate evidence)
Inflammatory bowel disease v0.83 NOX1 Zornitza Stark Gene: nox1 has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.83 NOX1 Zornitza Stark Classified gene: NOX1 as Amber List (moderate evidence)
Inflammatory bowel disease v0.83 NOX1 Zornitza Stark Gene: nox1 has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.82 NOX1 Zornitza Stark reviewed gene: NOX1: Rating: AMBER; Mode of pathogenicity: None; Publications: 32064493; Phenotypes: Inflammatory bowel disease, MONDO:0005265, NOX1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inflammatory bowel disease v0.82 NOX1 Peter McNaughton gene: NOX1 was added
gene: NOX1 was added to Inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: NOX1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: NOX1 were set to PMID: 29091079; 32064493
Phenotypes for gene: NOX1 were set to Inflammatory bowel disease
Review for gene: NOX1 was set to AMBER
Added comment: 8 IBD patients with early onset of IBD with progressive and severe colonic disease, refractory to conventional therapy and functional studies suggesting variant-dependent loss of NOX1-mediated superoxide generation. However, high frequency of nonsynonymous mutations in NOX1 suggests that NOX1 is not a highly penetrant Mendelian disorder and that other genetic modifiers or environmental factors may contribute to disease pathogenesis
Sources: Literature
Inflammatory bowel disease v0.82 DUOX2 Zornitza Stark Marked gene: DUOX2 as ready
Inflammatory bowel disease v0.82 DUOX2 Zornitza Stark Gene: duox2 has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.82 DUOX2 Zornitza Stark Phenotypes for gene: DUOX2 were changed from Colitis to Inflammatory bowel disease, MONDO:0005265, DUOX2-related
Inflammatory bowel disease v0.81 DUOX2 Zornitza Stark Classified gene: DUOX2 as Amber List (moderate evidence)
Inflammatory bowel disease v0.81 DUOX2 Zornitza Stark Gene: duox2 has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.80 DUOX2 Zornitza Stark reviewed gene: DUOX2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Inflammatory bowel disease v0.80 DUOX2 Peter McNaughton gene: DUOX2 was added
gene: DUOX2 was added to Inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: DUOX2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DUOX2 were set to PMID: 35429653; 27373512; 26301257; 28683258
Phenotypes for gene: DUOX2 were set to Colitis
Review for gene: DUOX2 was set to AMBER
Added comment: 4 case reports of early onset colitis (1-4y) associated with monoallelic or biallelic variants in NOX2. Also reported in 15 members of the same Ashkenazi Jewish family with a high incidence of adult-onset CD.
Sources: Literature
Inflammatory bowel disease v0.80 SLCO2A1 Zornitza Stark Marked gene: SLCO2A1 as ready
Inflammatory bowel disease v0.80 SLCO2A1 Zornitza Stark Gene: slco2a1 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.80 SLCO2A1 Zornitza Stark Phenotypes for gene: SLCO2A1 were changed from Enteropathy to Inflammatory bowel disease, MONDO:0005265, SLCO2A1-related; Enteropathy
Inflammatory bowel disease v0.79 SLCO2A1 Zornitza Stark Classified gene: SLCO2A1 as Green List (high evidence)
Inflammatory bowel disease v0.79 SLCO2A1 Zornitza Stark Gene: slco2a1 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.78 SLCO2A1 Zornitza Stark changed review comment from: Over 40 Japanese individuals reported with bi-allelic variants in this gene and multiple small intestinal ulcers of nonspecific histology.

This is distinct from the hypertrophic osteoarthropathy also associated with bi-allelic variants in this gene.; to: Over 40 Japanese individuals reported with bi-allelic variants in this gene and multiple small intestinal ulcers of nonspecific histology.

Some overlap with the hypertrophic osteoarthropathy also associated with bi-allelic variants in this gene. Mild digital clubbing or periostosis was found in 13 patients (28%), with five male patients fulfilling the major diagnostic criteria of PHO.
Inflammatory bowel disease v0.78 SLCO2A1 Zornitza Stark changed review comment from: Over 40 Japanese individuals reported with bi-allelic variants in this gene and multiple small intestinal ulcers of nonspecific histology.

This distinct from the hypertrophic osteoarthropathy also associated with bi-allelic variants in this gene.; to: Over 40 Japanese individuals reported with bi-allelic variants in this gene and multiple small intestinal ulcers of nonspecific histology.

This is distinct from the hypertrophic osteoarthropathy also associated with bi-allelic variants in this gene.
Inflammatory bowel disease v0.78 SLCO2A1 Zornitza Stark reviewed gene: SLCO2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Inflammatory bowel disease, MONDO:0005265, SLCO2A1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.78 SLCO2A1 Peter McNaughton gene: SLCO2A1 was added
gene: SLCO2A1 was added to Inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: SLCO2A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLCO2A1 were set to PMID: 29313109
Phenotypes for gene: SLCO2A1 were set to Enteropathy
Review for gene: SLCO2A1 was set to GREEN
Added comment: Sources: Literature
Inflammatory bowel disease v0.78 IL10RB Zornitza Stark Marked gene: IL10RB as ready
Inflammatory bowel disease v0.78 IL10RB Zornitza Stark Gene: il10rb has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.78 IL10RB Zornitza Stark Phenotypes for gene: IL10RB were changed from to Inflammatory bowel disease 25, early onset, autosomal recessive, MIM# 612567
Inflammatory bowel disease v0.77 IL10RB Zornitza Stark Publications for gene: IL10RB were set to
Inflammatory bowel disease v0.76 IL10RB Zornitza Stark Mode of inheritance for gene: IL10RB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.75 IL10RB Zornitza Stark reviewed gene: IL10RB: Rating: GREEN; Mode of pathogenicity: None; Publications: 19890111, 21519361, 35187668, 31096038; Phenotypes: Inflammatory bowel disease 25, early onset, autosomal recessive, MIM# 612567; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.75 IL10RA Zornitza Stark Marked gene: IL10RA as ready
Inflammatory bowel disease v0.75 IL10RA Zornitza Stark Gene: il10ra has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.75 IL10RA Zornitza Stark Phenotypes for gene: IL10RA were changed from to Inflammatory bowel disease 28, early onset, autosomal recessive, MIM# 613148
Inflammatory bowel disease v0.74 IL10RA Zornitza Stark Publications for gene: IL10RA were set to
Inflammatory bowel disease v0.73 IL10RA Zornitza Stark Mode of inheritance for gene: IL10RA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.72 IL10RA Zornitza Stark reviewed gene: IL10RA: Rating: GREEN; Mode of pathogenicity: None; Publications: 19890111, 21519361, 22476154; Phenotypes: Inflammatory bowel disease 28, early onset, autosomal recessive, MIM# 613148; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.72 IL10 Zornitza Stark Marked gene: IL10 as ready
Inflammatory bowel disease v0.72 IL10 Zornitza Stark Gene: il10 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.72 IL10 Zornitza Stark Classified gene: IL10 as Green List (high evidence)
Inflammatory bowel disease v0.72 IL10 Zornitza Stark Gene: il10 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.71 IL10 Zornitza Stark gene: IL10 was added
gene: IL10 was added to Inflammatory bowel disease. Sources: Expert Review
Mode of inheritance for gene: IL10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL10 were set to 22236434; 20951137; 19890111
Phenotypes for gene: IL10 were set to Diseases of Immune Dysregulation; Early-onset inflammatory bowel disease
Review for gene: IL10 was set to GREEN
Added comment: At least two families and a mouse model.
Sources: Expert Review
Inflammatory bowel disease v0.70 NCF2 Zornitza Stark Marked gene: NCF2 as ready
Inflammatory bowel disease v0.70 NCF2 Zornitza Stark Gene: ncf2 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.70 NCF2 Zornitza Stark Phenotypes for gene: NCF2 were changed from to Chronic granulomatous disease 2, autosomal recessive, MIM# 233710
Inflammatory bowel disease v0.69 NCF2 Zornitza Stark Publications for gene: NCF2 were set to
Inflammatory bowel disease v0.68 NCF2 Zornitza Stark Mode of inheritance for gene: NCF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.67 NCF2 Krithika Murali reviewed gene: NCF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 7795241, 10498624; Phenotypes: Chronic granulomatous disease 2, autosomal recessive, MIM# 233710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.67 PTEN Zornitza Stark Marked gene: PTEN as ready
Inflammatory bowel disease v0.67 PTEN Zornitza Stark Gene: pten has been classified as Red List (Low Evidence).
Inflammatory bowel disease v0.67 PTEN Zornitza Stark Phenotypes for gene: PTEN were changed from to Colitis
Inflammatory bowel disease v0.66 PTEN Zornitza Stark Publications for gene: PTEN were set to
Inflammatory bowel disease v0.65 PTEN Zornitza Stark Mode of inheritance for gene: PTEN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inflammatory bowel disease v0.64 PTEN Zornitza Stark Classified gene: PTEN as Red List (low evidence)
Inflammatory bowel disease v0.64 PTEN Zornitza Stark Gene: pten has been classified as Red List (Low Evidence).
Inflammatory bowel disease v0.63 PTEN Nicola Poplawski reviewed gene: PTEN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Inflammatory bowel disease v0.63 TNFAIP3 Zornitza Stark Marked gene: TNFAIP3 as ready
Inflammatory bowel disease v0.63 TNFAIP3 Zornitza Stark Gene: tnfaip3 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.63 TNFAIP3 Zornitza Stark Publications for gene: TNFAIP3 were set to 34030699, 33446651, 32521965, 31299923
Inflammatory bowel disease v0.62 TNFAIP3 Zornitza Stark Classified gene: TNFAIP3 as Green List (high evidence)
Inflammatory bowel disease v0.62 TNFAIP3 Zornitza Stark Gene: tnfaip3 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.61 TNFAIP3 Lavvina Thiyagarajan gene: TNFAIP3 was added
gene: TNFAIP3 was added to Inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: TNFAIP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TNFAIP3 were set to 34030699, 33446651, 32521965, 31299923
Phenotypes for gene: TNFAIP3 were set to Inflammatory bowel disease; Crohn's disease; Autoinflammatory syndrome, familial, Behcet-like
Penetrance for gene: TNFAIP3 were set to unknown
Review for gene: TNFAIP3 was set to GREEN
Added comment: 4 unrelated individuals with inflammatory bowel disease and variants TNFAIP3 - haploinsufficiency suggested as disease mechanism.
Sources: Literature
Inflammatory bowel disease v0.61 CARMIL2 Zornitza Stark Marked gene: CARMIL2 as ready
Inflammatory bowel disease v0.61 CARMIL2 Zornitza Stark Gene: carmil2 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.61 CARMIL2 Zornitza Stark Classified gene: CARMIL2 as Green List (high evidence)
Inflammatory bowel disease v0.61 CARMIL2 Zornitza Stark Gene: carmil2 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.60 CARMIL2 Zornitza Stark gene: CARMIL2 was added
gene: CARMIL2 was added to Inflammatory bowel disease. Sources: Expert Review
Mode of inheritance for gene: CARMIL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CARMIL2 were set to 33723309
Phenotypes for gene: CARMIL2 were set to Early onset paediatric inflammatory bowel disease
Review for gene: CARMIL2 was set to GREEN
Added comment: Bi-allelic variants in this gene are associated with immunodeficiency. Four individuals from three families reported with early onset IBD. None manifested overt clinical signs of immunodeficiency before their diagnosis.
Sources: Expert Review
Inflammatory bowel disease v0.59 IFIH1 Sarah Pantaleo changed review comment from: Rare, likely loss-of-functions IFIH1 variants identified in eight patients with Very Early Onset Inflammatory Bowel Disease (VEOIBD) with VEOIBD from a combined cohort of 42 children. One homozygous truncating variant in a neonate from a consanguineous family, seven carriers of LoF variants (three of whom also have a second hypomorphic missense variant). Luciferase reporter assays employed to assess MDA5 activity (encoded by IFIH1). In three cases, the functional studies demonstrated that the second missense variant either did not affect protein function or was in cis with the LoF variant.
Sources: Literature; to: IFIH1 encodes MDA5, a key cystolic sensor for viral nucleic acids. Rare, likely loss-of-functions IFIH1 variants identified in eight independent probands with Very Early Onset Inflammatory Bowel Disease (VEOIBD) from a combined cohort of 42 children. IFIH1 variants were significantly enriched in children with VEOIBD as compared to controls (p=0.007).
In one case of neonatal-onset IBD, a homozygous truncating variant was identified. There were seven carriers of LoF variants identified (range of onset 6 months to 6 years of age). In three of these cases, a second hypomorphic missense variant was identified.
Luciferase reporter assays were employed to assess MDA5 activity. In some cases, the second missense variant was either proven to not affect protein function or was in cis with the LoF variant.
Complete and partial MDA5 deficiency is associated with VEOIBD with variable penetrance and expressivity, suggesting a role for impaired intestinal viral sensing in IBD pathogenesis.
Sources: Literature
Inflammatory bowel disease v0.59 IFIH1 Zornitza Stark Marked gene: IFIH1 as ready
Inflammatory bowel disease v0.59 IFIH1 Zornitza Stark Gene: ifih1 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.59 IFIH1 Zornitza Stark Classified gene: IFIH1 as Green List (high evidence)
Inflammatory bowel disease v0.59 IFIH1 Zornitza Stark Gene: ifih1 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.58 IFIH1 Sarah Pantaleo gene: IFIH1 was added
gene: IFIH1 was added to Inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: IFIH1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: IFIH1 were set to 34185153
Phenotypes for gene: IFIH1 were set to Inflammatory Bowel Disease
Penetrance for gene: IFIH1 were set to Incomplete
Review for gene: IFIH1 was set to GREEN
Added comment: Rare, likely loss-of-functions IFIH1 variants identified in eight patients with Very Early Onset Inflammatory Bowel Disease (VEOIBD) with VEOIBD from a combined cohort of 42 children. One homozygous truncating variant in a neonate from a consanguineous family, seven carriers of LoF variants (three of whom also have a second hypomorphic missense variant). Luciferase reporter assays employed to assess MDA5 activity (encoded by IFIH1). In three cases, the functional studies demonstrated that the second missense variant either did not affect protein function or was in cis with the LoF variant.
Sources: Literature
Inflammatory bowel disease v0.58 IL37 Zornitza Stark Phenotypes for gene: IL37 were changed from Infantile inflammatory bowel disease to Inflammatory bowel disease (infantile ulcerative colitis) 31, MIM# 619398
Inflammatory bowel disease v0.57 IL37 Zornitza Stark edited their review of gene: IL37: Changed phenotypes: Inflammatory bowel disease (infantile ulcerative colitis) 31, MIM# 619398
Inflammatory bowel disease v0.57 STXBP3 Zornitza Stark Classified gene: STXBP3 as Green List (high evidence)
Inflammatory bowel disease v0.57 STXBP3 Zornitza Stark Gene: stxbp3 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.56 STXBP3 Zornitza Stark Classified gene: STXBP3 as Green List (high evidence)
Inflammatory bowel disease v0.56 STXBP3 Zornitza Stark Gene: stxbp3 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.55 STXBP3 Zornitza Stark Marked gene: STXBP3 as ready
Inflammatory bowel disease v0.55 STXBP3 Zornitza Stark Gene: stxbp3 has been classified as Red List (Low Evidence).
Inflammatory bowel disease v0.55 STXBP3 Zornitza Stark gene: STXBP3 was added
gene: STXBP3 was added to Inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: STXBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STXBP3 were set to 33891011
Phenotypes for gene: STXBP3 were set to Very Early Onset Inflammatory Bowel Disease; Bilateral Sensorineural Hearing Loss; Immune Dysregulation
Review for gene: STXBP3 was set to GREEN
Added comment: 10 individuals from 5 families reported.
Sources: Literature
Inflammatory bowel disease v0.54 XIAP Zornitza Stark Marked gene: XIAP as ready
Inflammatory bowel disease v0.54 XIAP Zornitza Stark Gene: xiap has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.54 XIAP Zornitza Stark Phenotypes for gene: XIAP were changed from to X-linked lymphoproliferative syndrome 2; inflammatory bowel disease; colitis
Inflammatory bowel disease v0.53 XIAP Zornitza Stark Publications for gene: XIAP were set to
Inflammatory bowel disease v0.52 XIAP Zornitza Stark Mode of inheritance for gene: XIAP was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Inflammatory bowel disease v0.51 XIAP Lavvina Thiyagarajan reviewed gene: XIAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 25666262, 17080092, 21173700, 25943627, 22228567, 26182687, 31232887; Phenotypes: X-linked lymphoproliferative syndrome 2, inflammatory bowel disease, colitis; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Inflammatory bowel disease v0.51 IL37 Zornitza Stark Marked gene: IL37 as ready
Inflammatory bowel disease v0.51 IL37 Zornitza Stark Gene: il37 has been classified as Red List (Low Evidence).
Inflammatory bowel disease v0.51 IL37 Zornitza Stark gene: IL37 was added
gene: IL37 was added to Inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: IL37 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL37 were set to 33674380
Phenotypes for gene: IL37 were set to Infantile inflammatory bowel disease
Review for gene: IL37 was set to RED
Added comment: Single family reported with homozygous truncating variant this gene and infantile-onset of IBD, some functional data.
Sources: Literature
Inflammatory bowel disease v0.50 ZAP70 Zornitza Stark changed review comment from: Comment when marking as ready: Single family.; to: Comment when marking as ready: two families. Insufficient information available about third to be used as evidence.
Inflammatory bowel disease v0.50 ZAP70 Zornitza Stark edited their review of gene: ZAP70: Changed rating: AMBER
Inflammatory bowel disease v0.50 ZAP70 Zornitza Stark Publications for gene: ZAP70 were set to 26783323
Inflammatory bowel disease v0.49 ZAP70 Zornitza Stark Classified gene: ZAP70 as Amber List (moderate evidence)
Inflammatory bowel disease v0.49 ZAP70 Zornitza Stark Gene: zap70 has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.48 ZAP70 Lavvina Thiyagarajan changed review comment from: Three unrelated cases described in the literature. 1) 2 siblings with compound heterozygous missense mutations in ZAP70 2) female infant with homozygous missense mutation in ZAP70 3) individual with VEOIBD and missense mutation in ZAP70 (zygosity not specified in paper, no specific details regarding variant outlined in paper) - PMID: 32819795); to: Three unrelated cases described in the literature. 1) 2 siblings with compound heterozygous missense mutations in ZAP70 2) female infant with homozygous missense mutation in ZAP70 3) individual with VEOIBD and missense mutation in ZAP70 (zygosity not specified in paper, no specific details regarding variant outlined in paper) - PMID: 32819795)
Inflammatory bowel disease v0.48 ZAP70 Lavvina Thiyagarajan changed review comment from: Three unrelated cases described in the literature. 1) 2 siblings with compound heterozygous missense mutations in ZAP70 2) female infant with homozygous missense mutation in ZAP70 3) individual with VEOIBD and missense mutation in ZAP70 (zygosity not specified in paper hence details of this case are unclear - PMID: 32819795); to: Three unrelated cases described in the literature. 1) 2 siblings with compound heterozygous missense mutations in ZAP70 2) female infant with homozygous missense mutation in ZAP70 3) individual with VEOIBD and missense mutation in ZAP70 (zygosity not specified in paper, no specific details regarding variant outlined in paper) - PMID: 32819795)
Inflammatory bowel disease v0.48 ZAP70 Lavvina Thiyagarajan Deleted their comment
Inflammatory bowel disease v0.48 ZAP70 Lavvina Thiyagarajan edited their review of gene: ZAP70: Added comment: Three unrelated cases described in the literature. 1) 2 siblings with compound heterozygous missense mutations in ZAP70 2) female infant with homozygous missense mutation in ZAP70 3) individual with VEOIBD and missense mutation in ZAP70 (zygosity not specified in paper hence details of this case are unclear - PMID: 32819795); Changed publications: 26783323, 32819795, 32633164
Inflammatory bowel disease v0.48 ZAP70 Zornitza Stark edited their review of gene: ZAP70: Changed rating: RED
Inflammatory bowel disease v0.48 ZAP70 Zornitza Stark Marked gene: ZAP70 as ready
Inflammatory bowel disease v0.48 ZAP70 Zornitza Stark Added comment: Comment when marking as ready: Single family.
Inflammatory bowel disease v0.48 ZAP70 Zornitza Stark Gene: zap70 has been classified as Red List (Low Evidence).
Inflammatory bowel disease v0.48 ZAP70 Zornitza Stark Classified gene: ZAP70 as Red List (low evidence)
Inflammatory bowel disease v0.48 ZAP70 Zornitza Stark Gene: zap70 has been classified as Red List (Low Evidence).
Inflammatory bowel disease v0.47 ZAP70 Lavvina Thiyagarajan gene: ZAP70 was added
gene: ZAP70 was added to Inflammatory bowel disease. Sources: Other
Mode of inheritance for gene: ZAP70 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZAP70 were set to 26783323
Phenotypes for gene: ZAP70 were set to Autoimmune disease, multisystem, infantile-onset, 2; inflammatory colitis
Penetrance for gene: ZAP70 were set to Complete
Review for gene: ZAP70 was set to AMBER
Added comment: 1 family described - 2 siblings of unrelated Caucasian parents with clinical findings and compound heterozygous missense mutations in ZAP70.
Sources: Other
Inflammatory bowel disease v0.47 NOD2 Lavvina Thiyagarajan reviewed gene: NOD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 32463623; Phenotypes: Inflammatory bowel disease, Crohn's disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.47 TTC37 Zornitza Stark Marked gene: TTC37 as ready
Inflammatory bowel disease v0.47 TTC37 Zornitza Stark Gene: ttc37 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.47 TTC37 Zornitza Stark Phenotypes for gene: TTC37 were changed from to Trichohepatoenteric syndrome 1, MIM#222470; Colitis; Pancolitis; Inflammatory bowel disease-like phenotype; Very Early Onset Inflammatory Bowel Disease
Inflammatory bowel disease v0.46 TTC37 Zornitza Stark Publications for gene: TTC37 were set to
Inflammatory bowel disease v0.45 TTC37 Zornitza Stark Mode of inheritance for gene: TTC37 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.44 TTC37 Lavvina Thiyagarajan reviewed gene: TTC37: Rating: GREEN; Mode of pathogenicity: None; Publications: 29334452, 27302973; Phenotypes: Trichohepatoenteric syndrome 1, Colitis, Pancolitis, Inflammatory bowel disease-like phenotype, Very Early Onset Inflammatory Bowel Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.44 TTC7A Zornitza Stark Phenotypes for gene: TTC7A were changed from Gastrointestinal defects and immunodeficiency syndrome, 243150 to Gastrointestinal defects and immunodeficiency syndrome, 243150; Very Early Onset Inflammatory Bowel Disease (VEOIBD)
Inflammatory bowel disease v0.43 TTC7A Zornitza Stark Publications for gene: TTC7A were set to 30553809; 28936210
Inflammatory bowel disease v0.42 TTC7A Lavvina Thiyagarajan reviewed gene: TTC7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24417819, 24292712, 23830146, 29174094, 31743734; Phenotypes: Gastrointestinal defects and immunodeficiency syndrome, 243150, Very Early Onset Inflammatory Bowel Disease (VEOIBD); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.42 TTC7A Lavvina Thiyagarajan Deleted their review
Inflammatory bowel disease v0.42 TTC7A Lavvina Thiyagarajan reviewed gene: TTC7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24417819; Phenotypes: Gastrointestinal defects and immunodeficiency syndrome, 243150, Very Early Onset Inflammatory Bowel Disease (VEOIBD); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.42 ANKZF1 Bryony Thompson Marked gene: ANKZF1 as ready
Inflammatory bowel disease v0.42 ANKZF1 Bryony Thompson Gene: ankzf1 has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.42 ANKZF1 Bryony Thompson Classified gene: ANKZF1 as Amber List (moderate evidence)
Inflammatory bowel disease v0.42 ANKZF1 Bryony Thompson Gene: ankzf1 has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.41 ANKZF1 Bryony Thompson gene: ANKZF1 was added
gene: ANKZF1 was added to Inflammatory bowel disease. Sources: Other
Mode of inheritance for gene: ANKZF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANKZF1 were set to 28302725
Phenotypes for gene: ANKZF1 were set to Infantile-onset inflammatory bowel disease
Review for gene: ANKZF1 was set to AMBER
Added comment: Two unrelated cases (1 homozygous and 1 compound heterozygous), and supporting in vitro and yeast assays indicating that loss-of-function mutations in ANKZF1 result in deregulation of mitochondrial integrity.
Sources: Other
Inflammatory bowel disease v0.40 ALPI Lavvina Thiyagarajan reviewed gene: ALPI: Rating: AMBER; Mode of pathogenicity: None; Publications: 32084423; Phenotypes: Inflammatory bowel disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.40 ALPI Lavvina Thiyagarajan Deleted their review
Inflammatory bowel disease v0.40 ALPI Lavvina Thiyagarajan changed review comment from: 2 unrelated individuals with inflammatory bowel disease. Some functional evidence. Additional recent publication in 2020 regarding ALPI but no new individuals described.; to: 2 unrelated individuals with inflammatory bowel disease. Some functional evidence. Additional recent publication (PMID: 32084423) in 2020 but no new individuals identified (patient described has previously been reported).
Inflammatory bowel disease v0.40 ALPI Lavvina Thiyagarajan changed review comment from: 3 unrelated individuals with inflammatory bowel disease. Some functional evidence. Additional (3rd) individual described in recent (2020) publication with bi-allelic variants in ALPI.; to: 2 unrelated individuals with inflammatory bowel disease. Some functional evidence. Additional recent publication in 2020 regarding ALPI but no new individuals described.
Inflammatory bowel disease v0.40 ALPI Zornitza Stark Marked gene: ALPI as ready
Inflammatory bowel disease v0.40 ALPI Zornitza Stark Added comment: Comment when marking as ready: Family reported in PMID 32084423 is actually already previously reported.
Inflammatory bowel disease v0.40 ALPI Zornitza Stark Gene: alpi has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.40 ALPI Zornitza Stark Classified gene: ALPI as Amber List (moderate evidence)
Inflammatory bowel disease v0.40 ALPI Zornitza Stark Gene: alpi has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.39 ALPI Zornitza Stark Publications for gene: ALPI were set to 29567797
Inflammatory bowel disease v0.38 ALPI Zornitza Stark Classified gene: ALPI as Green List (high evidence)
Inflammatory bowel disease v0.38 ALPI Zornitza Stark Gene: alpi has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.37 ALPI Lavvina Thiyagarajan changed review comment from: 1 individual with clinically diagnosed inflammatory IBD - causal evidence: genetic, functional, pathology (as per paper) - in addition to 2 unrelated individuals from previous review.
; to: 3 unrelated individuals with inflammatory bowel disease. Some functional evidence. Additional (3rd) individual described in recent (2020) publication with bi-allelic variants in ALPI.
Inflammatory bowel disease v0.37 ALPI Lavvina Thiyagarajan changed review comment from: 1 individual with clinically diagnosed inflammatory IBD - causal evidence: genetic, functional, pathology (as per paper); to: 1 individual with clinically diagnosed inflammatory IBD - causal evidence: genetic, functional, pathology (as per paper) - in addition to 2 unrelated individuals from previous review.
Inflammatory bowel disease v0.37 ALPI Lavvina Thiyagarajan reviewed gene: ALPI: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32084423; Phenotypes: Inflammatory bowel disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.37 SLC9A3 Zornitza Stark Marked gene: SLC9A3 as ready
Inflammatory bowel disease v0.37 SLC9A3 Zornitza Stark Gene: slc9a3 has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.37 SLC9A3 Zornitza Stark Classified gene: SLC9A3 as Amber List (moderate evidence)
Inflammatory bowel disease v0.37 SLC9A3 Zornitza Stark Gene: slc9a3 has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.36 SLC9A3 Zornitza Stark gene: SLC9A3 was added
gene: SLC9A3 was added to Inflammatory bowel disease. Sources: Expert Review
Mode of inheritance for gene: SLC9A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC9A3 were set to 26358773; 33346580
Phenotypes for gene: SLC9A3 were set to Diarrhoea 8, secretory sodium, congenital 616868; Very Early Onset Inflammatory Bowel Disease
Review for gene: SLC9A3 was set to AMBER
Added comment: Described as a monogenic cause of VEOIBD. 2 patients from unrelated families in a series of 9 cases with SLC9A3-related congenital sodium diarrhoea developed intestinal inflammation/IBD (PMID: 26358773). GWAS have indicated a strong association between SLC9A3 and IBD, and there are supportive mouse models (reviewed in PMID: 26358773).Included on a monogenic IBD gene panel proposed by The Paediatric IBD Porto Group of ESPGHAN (PMID: 33346580).
Sources: Expert Review
Inflammatory bowel disease v0.35 CARD8 Zornitza Stark Marked gene: CARD8 as ready
Inflammatory bowel disease v0.35 CARD8 Zornitza Stark Gene: card8 has been classified as Red List (Low Evidence).
Inflammatory bowel disease v0.35 CARD8 Zornitza Stark gene: CARD8 was added
gene: CARD8 was added to Inflammatory bowel disease. Sources: Expert list
Mode of inheritance for gene: CARD8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CARD8 were set to 29408806
Phenotypes for gene: CARD8 were set to Inflammatory bowel disease-30, MIM#619079
Review for gene: CARD8 was set to RED
Added comment: Two individuals from one family reported segregating a missense variant, dominant negative effect postulated.
Sources: Expert list
Inflammatory bowel disease v0.34 OTULIN Zornitza Stark Marked gene: OTULIN as ready
Inflammatory bowel disease v0.34 OTULIN Zornitza Stark Gene: otulin has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.34 OTULIN Zornitza Stark Classified gene: OTULIN as Green List (high evidence)
Inflammatory bowel disease v0.34 OTULIN Zornitza Stark Gene: otulin has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.34 OTULIN Zornitza Stark Classified gene: OTULIN as Green List (high evidence)
Inflammatory bowel disease v0.34 OTULIN Zornitza Stark Gene: otulin has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.33 OTULIN Zornitza Stark gene: OTULIN was added
gene: OTULIN was added to Inflammatory bowel disease. Sources: Expert list
Mode of inheritance for gene: OTULIN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OTULIN were set to 27523608; 27559085
Phenotypes for gene: OTULIN were set to Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099
Review for gene: OTULIN was set to GREEN
Added comment: Autoinflammatory disorder where diarrhoea is one of the presenting features in addition to recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy.
Sources: Expert list
Inflammatory bowel disease v0.32 NOD2 Zornitza Stark changed review comment from: Variants in NOD2 (particularly bi-allelic ones) are associated with increased risk of Crohn's disease.
Sources: Expert Review; to: Variants in NOD2 (particularly bi-allelic ones) are associated with increased risk of Crohn's disease. 7% of a cohort of 401 patients with Crohn's had NOD2 bi-allelic variants.
Sources: Expert Review
Inflammatory bowel disease v0.32 NOD2 Zornitza Stark edited their review of gene: NOD2: Changed publications: 11385576, 17804789, 32463623; Changed phenotypes: {Inflammatory bowel disease 1, Crohn disease} 266600, {Yao syndrome} 617321
Inflammatory bowel disease v0.32 FERMT1 Zornitza Stark Marked gene: FERMT1 as ready
Inflammatory bowel disease v0.32 FERMT1 Zornitza Stark Gene: fermt1 has been classified as Red List (Low Evidence).
Inflammatory bowel disease v0.32 FERMT1 Zornitza Stark Phenotypes for gene: FERMT1 were changed from to Kindler syndrome, MIM# 173650
Inflammatory bowel disease v0.31 FERMT1 Zornitza Stark Publications for gene: FERMT1 were set to
Inflammatory bowel disease v0.30 FERMT1 Zornitza Stark Mode of inheritance for gene: FERMT1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Inflammatory bowel disease v0.29 FERMT1 Zornitza Stark Classified gene: FERMT1 as Red List (low evidence)
Inflammatory bowel disease v0.29 FERMT1 Zornitza Stark Gene: fermt1 has been classified as Red List (Low Evidence).
Inflammatory bowel disease v0.28 FERMT1 Zornitza Stark reviewed gene: FERMT1: Rating: RED; Mode of pathogenicity: None; Publications: 19057668, 27537055, 32463623; Phenotypes: Kindler syndrome, MIM# 173650; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Inflammatory bowel disease v0.28 NOD2 Zornitza Stark Marked gene: NOD2 as ready
Inflammatory bowel disease v0.28 NOD2 Zornitza Stark Gene: nod2 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.28 NOD2 Zornitza Stark Classified gene: NOD2 as Green List (high evidence)
Inflammatory bowel disease v0.28 NOD2 Zornitza Stark Gene: nod2 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.27 NOD2 Zornitza Stark gene: NOD2 was added
gene: NOD2 was added to Inflammatory bowel disease. Sources: Expert Review
Mode of inheritance for gene: NOD2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NOD2 were set to 11385576; 17804789
Phenotypes for gene: NOD2 were set to {Inflammatory bowel disease 1, Crohn disease} 266600; {Yao syndrome} 617321
Review for gene: NOD2 was set to GREEN
Added comment: Variants in NOD2 (particularly bi-allelic ones) are associated with increased risk of Crohn's disease.
Sources: Expert Review
Inflammatory bowel disease v0.26 RIPK1 Zornitza Stark Marked gene: RIPK1 as ready
Inflammatory bowel disease v0.26 RIPK1 Zornitza Stark Gene: ripk1 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.26 RIPK1 Zornitza Stark Classified gene: RIPK1 as Green List (high evidence)
Inflammatory bowel disease v0.26 RIPK1 Zornitza Stark Gene: ripk1 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.25 RIPK1 Zornitza Stark gene: RIPK1 was added
gene: RIPK1 was added to Inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: RIPK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIPK1 were set to 30026316; 30591564; 31213653
Phenotypes for gene: RIPK1 were set to Immunodeficiency 57, MIM#618108
Review for gene: RIPK1 was set to GREEN
Added comment: Ten families reported, inflammatory bowel disease/enteropathy is a common feature of this immune dysregulation syndrome.
Sources: Literature
Inflammatory bowel disease v0.24 SAMD9 Zornitza Stark Marked gene: SAMD9 as ready
Inflammatory bowel disease v0.24 SAMD9 Zornitza Stark Gene: samd9 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.24 SAMD9 Zornitza Stark Phenotypes for gene: SAMD9 were changed from to MIRAGE syndrome, MIM# 617053
Inflammatory bowel disease v0.23 SAMD9 Zornitza Stark Publications for gene: SAMD9 were set to
Inflammatory bowel disease v0.22 SAMD9 Zornitza Stark Mode of inheritance for gene: SAMD9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inflammatory bowel disease v0.21 SAMD9 Zornitza Stark reviewed gene: SAMD9: Rating: GREEN; Mode of pathogenicity: None; Publications: 31620126; Phenotypes: MIRAGE syndrome, MIM# 617053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inflammatory bowel disease v0.21 PTEN Zornitza Stark reviewed gene: PTEN: Rating: AMBER; Mode of pathogenicity: None; Publications: 23962154, 24882466, 25352295, 22266152; Phenotypes: Colitis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inflammatory bowel disease v0.21 EPCAM Zornitza Stark Marked gene: EPCAM as ready
Inflammatory bowel disease v0.21 EPCAM Zornitza Stark Gene: epcam has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.21 EPCAM Zornitza Stark Phenotypes for gene: EPCAM were changed from to Diarrhea 5, with tufting enteropathy, congenital, MIM# 613217
Inflammatory bowel disease v0.20 EPCAM Zornitza Stark Publications for gene: EPCAM were set to
Inflammatory bowel disease v0.19 EPCAM Zornitza Stark Mode of inheritance for gene: EPCAM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.18 EPCAM Zornitza Stark Classified gene: EPCAM as Amber List (moderate evidence)
Inflammatory bowel disease v0.18 EPCAM Zornitza Stark Gene: epcam has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.17 EPCAM Zornitza Stark reviewed gene: EPCAM: Rating: AMBER; Mode of pathogenicity: None; Publications: 27302973; Phenotypes: Diarrhea 5, with tufting enteropathy, congenital, MIM# 613217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.17 COL7A1 Zornitza Stark Marked gene: COL7A1 as ready
Inflammatory bowel disease v0.17 COL7A1 Zornitza Stark Gene: col7a1 has been classified as Red List (Low Evidence).
Inflammatory bowel disease v0.17 COL7A1 Zornitza Stark Phenotypes for gene: COL7A1 were changed from to Epidermolysis bullosa dystrophica, AR, MIM# 226600
Inflammatory bowel disease v0.16 COL7A1 Zornitza Stark Publications for gene: COL7A1 were set to
Inflammatory bowel disease v0.15 COL7A1 Zornitza Stark Mode of inheritance for gene: COL7A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.14 COL7A1 Zornitza Stark Classified gene: COL7A1 as Red List (low evidence)
Inflammatory bowel disease v0.14 COL7A1 Zornitza Stark Gene: col7a1 has been classified as Red List (Low Evidence).
Inflammatory bowel disease v0.13 COL7A1 Zornitza Stark reviewed gene: COL7A1: Rating: RED; Mode of pathogenicity: None; Publications: 27537055, 25058236; Phenotypes: Epidermolysis bullosa dystrophica, AR, MIM# 226600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.13 ADAM17 Zornitza Stark Marked gene: ADAM17 as ready
Inflammatory bowel disease v0.13 ADAM17 Zornitza Stark Gene: adam17 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.13 ADAM17 Zornitza Stark Classified gene: ADAM17 as Green List (high evidence)
Inflammatory bowel disease v0.13 ADAM17 Zornitza Stark Gene: adam17 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.12 ADAM17 Zornitza Stark gene: ADAM17 was added
gene: ADAM17 was added to Inflammatory bowel disease. Sources: Expert Review
Mode of inheritance for gene: ADAM17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAM17 were set to 22010916; 29560122; 26683521; 25804906
Phenotypes for gene: ADAM17 were set to Inflammatory skin and bowel disease, neonatal, 1, MIM# 614328; Recurrent infections
Review for gene: ADAM17 was set to GREEN
Added comment: Three unrelated families reported, inflammatory bowel disease was prominent in two; support from mouse model.
Sources: Expert Review
Inflammatory bowel disease v0.11 TRIM22 Zornitza Stark Marked gene: TRIM22 as ready
Inflammatory bowel disease v0.11 TRIM22 Zornitza Stark Gene: trim22 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.11 TRIM22 Zornitza Stark Classified gene: TRIM22 as Green List (high evidence)
Inflammatory bowel disease v0.11 TRIM22 Zornitza Stark Gene: trim22 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.10 TRIM22 Zornitza Stark gene: TRIM22 was added
gene: TRIM22 was added to Inflammatory bowel disease. Sources: Expert list
Mode of inheritance for gene: TRIM22 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIM22 were set to 26836588
Phenotypes for gene: TRIM22 were set to Inflammatory bowel disease
Review for gene: TRIM22 was set to GREEN
Added comment: Three unrelated families reported with bi-allelic variants in this gene, and very early onset IBD, some functional data.
Sources: Expert list
Inflammatory bowel disease v0.9 ALPI Zornitza Stark Marked gene: ALPI as ready
Inflammatory bowel disease v0.9 ALPI Zornitza Stark Gene: alpi has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.9 ALPI Zornitza Stark Classified gene: ALPI as Amber List (moderate evidence)
Inflammatory bowel disease v0.9 ALPI Zornitza Stark Gene: alpi has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.8 ALPI Zornitza Stark gene: ALPI was added
gene: ALPI was added to Inflammatory bowel disease. Sources: Expert list
Mode of inheritance for gene: ALPI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALPI were set to 29567797
Phenotypes for gene: ALPI were set to Inflammatory bowel disease
Review for gene: ALPI was set to AMBER
Added comment: Two unrelated individuals, some functional data.
Sources: Expert list
Inflammatory bowel disease v0.7 TGFB1 Zornitza Stark Marked gene: TGFB1 as ready
Inflammatory bowel disease v0.7 TGFB1 Zornitza Stark Gene: tgfb1 has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.7 TGFB1 Zornitza Stark Classified gene: TGFB1 as Amber List (moderate evidence)
Inflammatory bowel disease v0.7 TGFB1 Zornitza Stark Gene: tgfb1 has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.6 TGFB1 Zornitza Stark gene: TGFB1 was added
gene: TGFB1 was added to Inflammatory bowel disease. Sources: Expert list
Mode of inheritance for gene: TGFB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TGFB1 were set to 29483653
Phenotypes for gene: TGFB1 were set to Inflammatory bowel disease, immunodeficiency, and encephalopathy, MIM# 618213
Review for gene: TGFB1 was set to AMBER
Added comment: Three individuals from two unrelated families reported. DD/ID and seizures in addition to IBD/immunodeficiency.
Sources: Expert list
Inflammatory bowel disease v0.5 TTC7A Zornitza Stark Marked gene: TTC7A as ready
Inflammatory bowel disease v0.5 TTC7A Zornitza Stark Gene: ttc7a has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.5 TTC7A Zornitza Stark Phenotypes for gene: TTC7A were changed from to Gastrointestinal defects and immunodeficiency syndrome, 243150
Inflammatory bowel disease v0.5 TTC7A Zornitza Stark Publications for gene: TTC7A were set to
Inflammatory bowel disease v0.4 TTC7A Zornitza Stark Mode of inheritance for gene: TTC7A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.3 TTC7A Zornitza Stark reviewed gene: TTC7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30553809, 28936210; Phenotypes: Gastrointestinal defects and immunodeficiency syndrome, 243150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.3 Zornitza Stark Panel name changed from Inflammatory bowel disease_VCGS to Inflammatory bowel disease
Panel types changed to Victorian Clinical Genetics Services
Inflammatory bowel disease v0.2 BACH2 Zornitza Stark Marked gene: BACH2 as ready
Inflammatory bowel disease v0.2 BACH2 Zornitza Stark Gene: bach2 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.2 BACH2 Zornitza Stark Classified gene: BACH2 as Green List (high evidence)
Inflammatory bowel disease v0.2 BACH2 Zornitza Stark Gene: bach2 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.1 BACH2 Zornitza Stark gene: BACH2 was added
gene: BACH2 was added to Inflammatory bowel disease_VCGS. Sources: Expert list
Mode of inheritance for gene: BACH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BACH2 were set to 28530713
Phenotypes for gene: BACH2 were set to Immunodeficiency 60, MIM# 618394; inflammatory bowel disease; recurrent sinopulmonary infections
Review for gene: BACH2 was set to GREEN
Added comment: Two families and a mouse model.
Sources: Expert list
Inflammatory bowel disease v0.0 XIAP Zornitza Stark gene: XIAP was added
gene: XIAP was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: XIAP was set to Unknown
Inflammatory bowel disease v0.0 WAS Zornitza Stark gene: WAS was added
gene: WAS was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WAS was set to Unknown
Inflammatory bowel disease v0.0 TTC7A Zornitza Stark gene: TTC7A was added
gene: TTC7A was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TTC7A was set to Unknown
Inflammatory bowel disease v0.0 TTC37 Zornitza Stark gene: TTC37 was added
gene: TTC37 was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TTC37 was set to Unknown
Inflammatory bowel disease v0.0 TGFBR2 Zornitza Stark gene: TGFBR2 was added
gene: TGFBR2 was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TGFBR2 was set to Unknown
Inflammatory bowel disease v0.0 TGFBR1 Zornitza Stark gene: TGFBR1 was added
gene: TGFBR1 was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TGFBR1 was set to Unknown
Inflammatory bowel disease v0.0 STXBP2 Zornitza Stark gene: STXBP2 was added
gene: STXBP2 was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: STXBP2 was set to Unknown
Inflammatory bowel disease v0.0 STAT3 Zornitza Stark gene: STAT3 was added
gene: STAT3 was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: STAT3 was set to Unknown
Inflammatory bowel disease v0.0 STAT1 Zornitza Stark gene: STAT1 was added
gene: STAT1 was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: STAT1 was set to Unknown
Inflammatory bowel disease v0.0 SLC37A4 Zornitza Stark gene: SLC37A4 was added
gene: SLC37A4 was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC37A4 was set to Unknown
Inflammatory bowel disease v0.0 SKIV2L Zornitza Stark gene: SKIV2L was added
gene: SKIV2L was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SKIV2L was set to Unknown
Inflammatory bowel disease v0.0 SH2D1A Zornitza Stark gene: SH2D1A was added
gene: SH2D1A was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SH2D1A was set to Unknown
Inflammatory bowel disease v0.0 SAMD9 Zornitza Stark gene: SAMD9 was added
gene: SAMD9 was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SAMD9 was set to Unknown
Inflammatory bowel disease v0.0 RTEL1 Zornitza Stark gene: RTEL1 was added
gene: RTEL1 was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RTEL1 was set to Unknown
Inflammatory bowel disease v0.0 RAG2 Zornitza Stark gene: RAG2 was added
gene: RAG2 was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RAG2 was set to Unknown
Inflammatory bowel disease v0.0 RAG1 Zornitza Stark gene: RAG1 was added
gene: RAG1 was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RAG1 was set to Unknown
Inflammatory bowel disease v0.0 PTEN Zornitza Stark gene: PTEN was added
gene: PTEN was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PTEN was set to Unknown
Inflammatory bowel disease v0.0 PIK3CD Zornitza Stark gene: PIK3CD was added
gene: PIK3CD was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PIK3CD was set to Unknown
Inflammatory bowel disease v0.0 NCF2 Zornitza Stark gene: NCF2 was added
gene: NCF2 was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NCF2 was set to Unknown
Inflammatory bowel disease v0.0 NCF1 Zornitza Stark gene: NCF1 was added
gene: NCF1 was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NCF1 was set to Unknown
Inflammatory bowel disease v0.0 MVK Zornitza Stark gene: MVK was added
gene: MVK was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MVK was set to Unknown
Inflammatory bowel disease v0.0 MEFV Zornitza Stark gene: MEFV was added
gene: MEFV was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MEFV was set to Unknown
Inflammatory bowel disease v0.0 LRBA Zornitza Stark gene: LRBA was added
gene: LRBA was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LRBA was set to Unknown
Inflammatory bowel disease v0.0 LIG4 Zornitza Stark gene: LIG4 was added
gene: LIG4 was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LIG4 was set to Unknown
Inflammatory bowel disease v0.0 ITGB2 Zornitza Stark gene: ITGB2 was added
gene: ITGB2 was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ITGB2 was set to Unknown
Inflammatory bowel disease v0.0 IL2RG Zornitza Stark gene: IL2RG was added
gene: IL2RG was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IL2RG was set to Unknown
Inflammatory bowel disease v0.0 IL2RA Zornitza Stark gene: IL2RA was added
gene: IL2RA was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IL2RA was set to Unknown
Inflammatory bowel disease v0.0 IL10RB Zornitza Stark gene: IL10RB was added
gene: IL10RB was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IL10RB was set to Unknown
Inflammatory bowel disease v0.0 IL10RA Zornitza Stark gene: IL10RA was added
gene: IL10RA was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IL10RA was set to Unknown
Inflammatory bowel disease v0.0 IKBKG Zornitza Stark gene: IKBKG was added
gene: IKBKG was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IKBKG was set to Unknown
Inflammatory bowel disease v0.0 ICOS Zornitza Stark gene: ICOS was added
gene: ICOS was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ICOS was set to Unknown
Inflammatory bowel disease v0.0 HPS6 Zornitza Stark gene: HPS6 was added
gene: HPS6 was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HPS6 was set to Unknown
Inflammatory bowel disease v0.0 HPS4 Zornitza Stark gene: HPS4 was added
gene: HPS4 was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HPS4 was set to Unknown
Inflammatory bowel disease v0.0 HPS1 Zornitza Stark gene: HPS1 was added
gene: HPS1 was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HPS1 was set to Unknown
Inflammatory bowel disease v0.0 GUCY2C Zornitza Stark gene: GUCY2C was added
gene: GUCY2C was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GUCY2C was set to Unknown
Inflammatory bowel disease v0.0 G6PC3 Zornitza Stark gene: G6PC3 was added
gene: G6PC3 was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: G6PC3 was set to Unknown
Inflammatory bowel disease v0.0 FOXP3 Zornitza Stark gene: FOXP3 was added
gene: FOXP3 was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FOXP3 was set to Unknown
Inflammatory bowel disease v0.0 FERMT1 Zornitza Stark gene: FERMT1 was added
gene: FERMT1 was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FERMT1 was set to Unknown
Inflammatory bowel disease v0.0 EPCAM Zornitza Stark gene: EPCAM was added
gene: EPCAM was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EPCAM was set to Unknown
Inflammatory bowel disease v0.0 DOCK8 Zornitza Stark gene: DOCK8 was added
gene: DOCK8 was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DOCK8 was set to Unknown
Inflammatory bowel disease v0.0 DCLRE1C Zornitza Stark gene: DCLRE1C was added
gene: DCLRE1C was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DCLRE1C was set to Unknown
Inflammatory bowel disease v0.0 CYBB Zornitza Stark gene: CYBB was added
gene: CYBB was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CYBB was set to Unknown
Inflammatory bowel disease v0.0 CYBA Zornitza Stark gene: CYBA was added
gene: CYBA was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CYBA was set to Unknown
Inflammatory bowel disease v0.0 CTLA4 Zornitza Stark gene: CTLA4 was added
gene: CTLA4 was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CTLA4 was set to Unknown
Inflammatory bowel disease v0.0 COL7A1 Zornitza Stark gene: COL7A1 was added
gene: COL7A1 was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL7A1 was set to Unknown
Inflammatory bowel disease v0.0 CD40LG Zornitza Stark gene: CD40LG was added
gene: CD40LG was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CD40LG was set to Unknown
Inflammatory bowel disease v0.0 CD3G Zornitza Stark gene: CD3G was added
gene: CD3G was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CD3G was set to Unknown
Inflammatory bowel disease v0.0 BTK Zornitza Stark gene: BTK was added
gene: BTK was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BTK was set to Unknown
Inflammatory bowel disease v0.0 AICDA Zornitza Stark gene: AICDA was added
gene: AICDA was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AICDA was set to Unknown
Inflammatory bowel disease v0.0 ADA Zornitza Stark gene: ADA was added
gene: ADA was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ADA was set to Unknown
Inflammatory bowel disease v0.0 Zornitza Stark Added panel Inflammatory bowel disease_VCGS