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| Infantile enterocolitis & monogenic inflammatory bowel disease v1.39 | TTC37 | Sarah Leigh Tag new-gene-name tag was added to gene: TTC37. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infantile enterocolitis & monogenic inflammatory bowel disease v1.39 | SKIV2L | Sarah Leigh Tag new-gene-name tag was added to gene: SKIV2L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infantile enterocolitis & monogenic inflammatory bowel disease v1.27 | COL7A1 | Arina Puzriakova Mode of inheritance for gene: COL7A1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infantile enterocolitis & monogenic inflammatory bowel disease v1.25 | PI4KA | Ivone Leong Tag watchlist tag was added to gene: PI4KA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infantile enterocolitis & monogenic inflammatory bowel disease v1.25 | PI4KA | Ivone Leong Tag Q3_21_rating was removed from gene: PI4KA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infantile enterocolitis & monogenic inflammatory bowel disease v1.25 | PI4KA |
Ivone Leong gene: PI4KA was added gene: PI4KA was added to Infantile enterocolitis & monogenic inflammatory bowel disease. Sources: Expert Review Amber Q3_21_rating tags were added to gene: PI4KA. Mode of inheritance for gene: PI4KA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PI4KA were set to 25855803; 34415322; 34415310 Phenotypes for gene: PI4KA were set to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 |
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| Infantile enterocolitis & monogenic inflammatory bowel disease v1.22 | IFIH1 |
Zornitza Stark gene: IFIH1 was added gene: IFIH1 was added to Infantile enterocolitis & monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IFIH1 were set to 34185153 Phenotypes for gene: IFIH1 were set to Inflammatory Bowel Disease Review for gene: IFIH1 was set to GREEN Added comment: 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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| Infantile enterocolitis & monogenic inflammatory bowel disease v1.17 | ANO1 |
Arina Puzriakova gene: ANO1 was added gene: ANO1 was added to Infantile enterocolitis & monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: ANO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ANO1 were set to 32487539 Phenotypes for gene: ANO1 were set to Impaired intestinal peristalsis; Haemorrhagic diarrhoea; Dysmorphic features Review for gene: ANO1 was set to AMBER Added comment: PMID: 32487539 (2020) - Two affected sibs presenting in early infancy with impaired intestinal peristalsis, intestinal pneumatosis and dysmorphic features. Delayed motor and language development was reported in one sibling, however, the other sibling died at 5 months from cardiac arrest and therefore a psychomotor assessment was not performed. Exome sequencing identified a homozygous truncating variant (c.897+3_897+6delAAGT, p.L300Vfs*58) in ANO1 which segregated with disease in the family. Functional data revealed that the variant led to lack of expression of functional TMEM16A in patient cells, which in turn abolished calcium-activated Cl- currents. Also supportive mouse model. Sources: Literature |
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| Infantile enterocolitis & monogenic inflammatory bowel disease v1.16 | TRIM22 |
Zornitza Stark gene: TRIM22 was added gene: TRIM22 was added to Infantile enterocolitis & monogenic 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 gene: TRIM22 was marked as current diagnostic 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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| Infantile enterocolitis & monogenic inflammatory bowel disease v1.16 | RIPK1 |
Zornitza Stark gene: RIPK1 was added gene: RIPK1 was added to Infantile enterocolitis & monogenic inflammatory bowel disease. Sources: Expert list 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: Expert list |
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| Infantile enterocolitis & monogenic inflammatory bowel disease v1.16 | NOD2 |
Zornitza Stark gene: NOD2 was added gene: NOD2 was added to Infantile enterocolitis & monogenic inflammatory bowel disease. Sources: Expert list 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; 32463623 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 gene: NOD2 was marked as current diagnostic Added comment: 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 list |
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| Infantile enterocolitis & monogenic inflammatory bowel disease v1.16 | BACH2 |
Zornitza Stark gene: BACH2 was added gene: BACH2 was added to Infantile enterocolitis & monogenic inflammatory bowel disease. 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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| Infantile enterocolitis & monogenic inflammatory bowel disease | WAS | Ellen McDonagh commented on WAS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infantile enterocolitis & monogenic inflammatory bowel disease | WAS | Neil shah reviewed WAS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infantile enterocolitis & monogenic inflammatory bowel disease | WAS | Sarah Leigh edited their review of WAS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infantile enterocolitis & monogenic inflammatory bowel disease | WAS | Sarah Leigh commented on WAS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||