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Primary immunodeficiency

Gene: LSM11

Red List (low evidence)

LSM11 (LSM11, U7 small nuclear RNA associated)
EnsemblGeneIds (GRCh38): ENSG00000155858
EnsemblGeneIds (GRCh37): ENSG00000155858
LSM11 is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

Not 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

Boaz Palterer (University of Florence)

I don't know

Two siblings with AGS from consanguineous parents were found to have homozygous LSM11 mutation.
Sources: Literature
Created: 27 Nov 2020, 10:31 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Type I interferonopathy, Aicardi-Goutières syndrome

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Type I interferonopathy
  • Aicardi-Goutières syndrome
Clinvar variants
Variants in LSM11
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

1 Dec 2020, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: LSM11 were changed from Type I interferonopathy, Aicardi-Goutières syndrome to Type I interferonopathy; Aicardi-Goutières syndrome

1 Dec 2020, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: lsm11 has been classified as Red List (Low Evidence).

27 Nov 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Boaz Palterer (University of Florence)

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