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Intellectual disability syndromic and non-syndromic

Gene: LSM11

Red List (low evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Phenotypes
Aicardi-Goutieres syndrome 8, MIM# 619486

Ee Ming Wong (Victorian Clinical Genetics Services)

Red List (low evidence)

- Two affected siblings from a consanguineous family carrying a homozygous variant in LSM11
- Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of
replication-dependent histone (RDH) mRNAs
- Knockdown of LSM11 in THP-1 cells results in an increase in misprocessed RDH mRNA and
interferon signaling

(added as Red as per discussion with Seb)
Sources: Literature
Created: 4 Jan 2021, 5:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
type I interferonopathy Aicardi–Goutières syndrome

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Aicardi-Goutieres syndrome 8, MIM# 619486
Clinvar variants
Variants in LSM11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Aug 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LSM11 were changed from type I interferonopathy Aicardi–Goutières syndrome to Aicardi-Goutieres syndrome 8, MIM# 619486

7 Jan 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

7 Jan 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Jan 2021, Gel status: 0

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

Ee Ming Wong (Victorian Clinical Genetics Services)

gene: LSM11 was added gene: LSM11 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: LSM11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LSM11 were set to PMID: 33230297 Phenotypes for gene: LSM11 were set to type I interferonopathy Aicardi–Goutières syndrome Review for gene: LSM11 was set to RED gene: LSM11 was marked as current diagnostic