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  3. LSM11
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Fetal anomalies

Gene: LSM11

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Natalie Bibb (C&S GLH)

I don't know

R21 reanalysis case presenting with dysmorphic features including low set ears, micro & retrognathia, increased intra-canthal distance, some triangle face appearance. Non-balancing rash over chest and legs, hepatosplenomegaly and thrombocytopenia. Ventriculomegaly, absent corpus callosum and lack of differentiation of sulci and gyri. Homozygous for a pathogenic variant in the LSM11 gene. This result confirms a genetic diagnosis of Aicardi-Goutieres syndrome. PMID: 33230297- 2 affected sibs clinical diagnosis of AGS homozyogus missense variant, first cousin parentsheterozygous. Fucntional analysis pathogenic loss-of-function mutations resulting in a disturbance of RDH pre-mRNA processing.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Aicardi-Goutieres syndrome 8, MIM#619486

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • ?Aicardi-Goutieres syndrome 8, OMIM:619486
Clinvar variants
Variants in LSM11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: LSM11 was added gene: LSM11 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber 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 8, OMIM:619486