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  3. LSM1
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Fetal anomalies

Gene: LSM1

Green List (high evidence)
LSM1 (LSM1 homolog, mRNA degradation associated)
EnsemblGeneIds (GRCh38): ENSG00000175324
EnsemblGeneIds (GRCh37): ENSG00000175324
OMIM: 607281, Gene2Phenotype
LSM1 is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.
Panel Version: 6.149
This gene and phenotype were reviewed during meetings between November 2025 & January 2026. 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, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.150

Beth Young (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

Okur et al. 2019 2 siblings with GDD and MCA including prenatally detected bilateral hydronephrosis, hydroureters, multiple renal cysts, hemivertebrae, and congenital heart disease. Both homozygous for spice site variant (c.231+4A>C). Unrelated parents of Ashkenazi Jewish ancestry. 2 unaffected sibs shown to be carriers. Carrier frequency 1 in 250 in AJ population in gnomAD. cDNA studies showed loss of canonical isoform. Kok Kilic et al. 2022 - 2 affected siblings with GDD. Oligohydramnios reported during one pregnancy. Both sibs homozygous for missense variant, but limited phenotypic info. Reytan Miron et al. 2025, 6 patients from 4 families homozygous for same splice site variant. Patients presented with dysmorphic facial features, developmental delay and multisystemic involvement; Four patients had cardiovascular anomalies, including patent ductus arteriosus in 2, bicuspid aortic valve in 2, atrial septal defect in 1, left ventricular hypertrophy in 1, and left heart hypoplasia with hypoplastic aortic arch and aortic coarctation in 1. Genitourinary malformations included a duplicated collecting system in 12 patients and a horseshoe kidney in 1 patient. Families of Muslim Arab and Ashkenazi Jewish ancestry ; haplotype analysis shows variant arose independently in the 2 populations.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
FICUS syndrome, OMIM:621193

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • FICUS syndrome, OMIM:621193
OMIM
607281
Clinvar variants
Variants in LSM1
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes FICUS syndrome, OMIM:621193 for gene: LSM1

9 Mar 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: LSM1 was added gene: LSM1 was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: LSM1 was set to BIALLELIC, autosomal or pseudoautosomal