1. Panels
  2. Autoinflammatory Disorders
  3. LSM11
STRs in panel
Prev Next
Regions in panel
Prev Next

Autoinflammatory Disorders

Gene: LSM11

Red List (low evidence)
LSM11 (LSM11, U7 small nuclear RNA associated)
EnsemblGeneIds (GRCh38): ENSG00000155858
EnsemblGeneIds (GRCh37): ENSG00000155858
LSM11 is in 5 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

A single consanguineous family reported so far
Sources: Expert list
Created: 16 Dec 2024, 3:30 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Aicardi-Goutieres syndrome MONDO:0018866

Publications

Created: 16 Dec 2024, 3:30 a.m.

Panel version: 1.59

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Aicardi-Goutieres syndrome MONDO:0018866
Clinvar variants
Variants in LSM11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Dec 2024, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

16 Dec 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: LSM11 was added gene: LSM11 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list 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 Aicardi-Goutieres syndrome MONDO:0018866 Review for gene: LSM11 was set to RED