1. Panels
  2. Newborns main panel
  3. LSM11
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Newborns main panel

Gene: LSM11

Amber List (moderate evidence)
LSM11 (LSM11, U7 small nuclear RNA associated)
EnsemblGeneIds (GRCh38): ENSG00000155858
EnsemblGeneIds (GRCh37): ENSG00000155858
LSM11 is in 3 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 33230297 - 1 family
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Aicardi-Goutieres syndrome 8
Clinvar variants
Variants in LSM11
Penetrance
None
Panels with this gene

History Filter Activity

4 Oct 2023, Gel status: 2

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to LSM11. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Aicardi-Goutieres syndrome 8 for gene: LSM11

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to LSM11. Added phenotypes Aicardi-Goutieres syndrome 8 for gene: LSM11 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to LSM11. Added phenotypes Aicardi-Goutieres syndrome 8 for gene: LSM11 Rating Changed from No List (delete) to Amber List (moderate evidence)

27 Mar 2023, Gel status: 0

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

Mafalda Gomes (Genomics England Curator)

gene: LSM11 was added gene: LSM11 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: LSM11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LSM11 were set to Aicardi-Goutieres syndrome 8