Activity
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.381 | LSM11 | Arina Puzriakova Phenotypes for gene: LSM11 were changed from Type I interferonopathy, Aicardi-Goutières syndrome to Type I interferonopathy; Aicardi-Goutières syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.380 | LSM11 | Arina Puzriakova Classified gene: LSM11 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.380 | LSM11 | Arina Puzriakova Gene: lsm11 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.379 | LSM11 | Arina Puzriakova reviewed gene: LSM11: Rating: ; Mode of pathogenicity: None; Publications: 33230297; Phenotypes: Type I interferonopathy, Aicardi–Goutières syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.379 | LSM11 |
Boaz Palterer gene: LSM11 was added gene: LSM11 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: LSM11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LSM11 were set to 33230297 Phenotypes for gene: LSM11 were set to Type I interferonopathy, Aicardi-Goutières syndrome Penetrance for gene: LSM11 were set to unknown Review for gene: LSM11 was set to AMBER Added comment: Two siblings with AGS from consanguineous parents were found to have homozygous LSM11 mutation. Sources: Literature |
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