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| 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. |
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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 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. |
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| 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 |
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