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| Autoinflammatory disorders v1.8 | SEC23B | Arina Puzriakova Phenotypes for gene: SEC23B were changed from Dyserythropoietic anemia, congenital, type II to Dyserythropoietic anemia, congenital, type II, OMIM:224100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v1.7 | SEC23B | Arina Puzriakova changed review comment from: Comment on list classification: New gene added to this panel by Lauma Freimane (Children's Clinical University Hospital). Biallelic variants are associated with congenital dyserythropoietic anemia (CDA) type II with multiple unrelated cases reported. These defective erythroblasts cannot develop into functional mature red blood cells. The resulting shortage of healthy red blood cells leads to the characteristic signs and symptoms of anemia, as well as complications including an enlarged liver and spleen (hepatosplenomegaly) and an abnormal buildup of iron that can damage the body's organs. Could not find evidence of an autoinflammatory component of this disorder and therefore rating as red on this panel.; to: Comment on list classification: New gene added to this panel by Lauma Freimane (Children's Clinical University Hospital). Biallelic variants are associated with congenital dyserythropoietic anemia (CDA) type II with multiple unrelated cases reported. These defective erythroblasts cannot develop into functional mature red blood cells. The resulting shortage of healthy red blood cells leads to the characteristic signs and symptoms of anemia, as well as complications including an enlarged liver and spleen (hepatosplenomegaly) and an abnormal buildup of iron that can damage the body's organs. Could not find strong evidence of an autoinflammatory component of this disorder and therefore rating as red on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v1.7 | SEC23B | Arina Puzriakova Classified gene: SEC23B as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v1.7 | SEC23B | Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Lauma Freimane (Children's Clinical University Hospital). Biallelic variants are associated with congenital dyserythropoietic anemia (CDA) type II with multiple unrelated cases reported. These defective erythroblasts cannot develop into functional mature red blood cells. The resulting shortage of healthy red blood cells leads to the characteristic signs and symptoms of anemia, as well as complications including an enlarged liver and spleen (hepatosplenomegaly) and an abnormal buildup of iron that can damage the body's organs. Could not find evidence of an autoinflammatory component of this disorder and therefore rating as red on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v1.7 | SEC23B | Arina Puzriakova Gene: sec23b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v1.1 | SEC23B |
Lauma Freimane gene: SEC23B was added gene: SEC23B was added to Autoinflammatory disorders. Sources: Literature Mode of inheritance for gene: SEC23B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SEC23B were set to 32098966 Phenotypes for gene: SEC23B were set to Dyserythropoietic anemia, congenital, type II Review for gene: SEC23B was set to GREEN Added comment: Sources: Literature |
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