Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: LSM11Not associated with any phenotype in OMIM or Gene2Phenotype.
Rating Red as only 2 individuals from one family reported at present (PMID: 33230297). Clinical features were typical of Aicardi–Goutières syndrome which is relevant to this panel, but additional cases required to confirm pathogenicity of LSM11 variants and support inclusion.Created: 1 Dec 2020, 1:42 p.m. | Last Modified: 1 Dec 2020, 1:42 p.m.
Panel Version: 2.379
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Type I interferonopathy; Aicardi–Goutières syndrome
Publications
Two siblings with AGS from consanguineous parents were found to have homozygous LSM11 mutation.
Sources: LiteratureCreated: 27 Nov 2020, 10:31 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Type I interferonopathy, Aicardi-Goutières syndrome
Publications
Phenotypes for gene: LSM11 were changed from Type I interferonopathy, Aicardi-Goutières syndrome to Type I interferonopathy; Aicardi-Goutières syndrome
Gene: lsm11 has been classified as Red List (Low Evidence).
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