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Intellectual disability syndromic and non-syndromic

Gene: LSM1

Red List (low evidence)

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

1 review

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

1 family with 2 siblings with global DD, multiple congenital anomalies, and abnormal eye movements, with homozygous splice variant in LSM1. Segregated with the phenotype in the family. Expression studies revealed absence of expression of the canonical isoform in the affected individuals. The Lsm1 knockout mice have a partially overlapping phenotype that affects the brain, heart, and eye.
Sources: Literature
Created: 11 Dec 2019, 11:25 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
no OMIM number yet

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • no OMIM number yet
OMIM
607281
Clinvar variants
Variants in LSM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lsm1 has been classified as Red List (Low Evidence).

11 Dec 2019, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: LSM1 was added gene: LSM1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature Mode of inheritance for gene: LSM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LSM1 were set to PMID: 31010896 Phenotypes for gene: LSM1 were set to no OMIM number yet Review for gene: LSM1 was set to RED