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| 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 | 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 |
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| 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 v0.113 | 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 |
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| 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 v0.110 | 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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. |
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| 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 |
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| 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 v0.73 | IL10RA | Zornitza Stark Mode of inheritance for gene: IL10RA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 |
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| 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 v0.65 | PTEN | Zornitza Stark Mode of inheritance for gene: PTEN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.61 | 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 | 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 |
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| 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 |
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| 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 v0.41 | 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 v0.27 | 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 |
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| 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 |
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| 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 v0.19 | EPCAM | Zornitza Stark Mode of inheritance for gene: EPCAM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.12 | 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 v0.1 | 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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