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Leukodystrophy - paediatric

Gene: LSM7

Amber List (moderate evidence)

LSM7 (LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated)
EnsemblGeneIds (GRCh38): ENSG00000130332
EnsemblGeneIds (GRCh37): ENSG00000130332
OMIM: 607287, Gene2Phenotype
LSM7 is in 2 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

Additional family - PMID: 39420558 (no new variants reported)
Compound heterozygous variant [Asp41Asn (paternally); p.Arg69Trp (maternally)] identified in a child of Algerian ancestry with cerebellar atrophy and leukodystrophy. The variants have been previously reported in a homozygous individual as well.
Created: 6 Nov 2024, 11:32 p.m. | Last Modified: 6 Nov 2024, 11:32 p.m.
Panel Version: 0.315

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
leukodystrophy MONDO:0019046

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Homozygous variant (p.Asp41Asn) identified in a child with leukodystrophy and a homozygous variant (p.Arg69Pro) identified in an individual that died in utero. In vitro and in vivo (zebrafish) assays supporting pathogenicity of the 2 variants.
Sources: Literature
Created: 6 May 2021, 10:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy; fetal death

Publications

  • https://doi.org/10.1016/j.xhgg.2021.100034

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • leukodystrophy MONDO:0019046, LRM7-related
OMIM
607287
Clinvar variants
Variants in LSM7
Penetrance
None
Publications
  • https://doi.org/10.1016/j.xhgg.2021.100034
  • 39420558
Panels with this gene

History Filter Activity

8 Nov 2024, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LSM7 were set to https://doi.org/10.1016/j.xhgg.2021.100034

8 Nov 2024, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LSM7 were changed from Leukodystrophy; fetal death to leukodystrophy MONDO:0019046, LRM7-related

8 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lsm7 has been classified as Amber List (Moderate Evidence).

6 May 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lsm7 has been classified as Red List (Low Evidence).

6 May 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LSM7 was added gene: LSM7 was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: LSM7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LSM7 were set to https://doi.org/10.1016/j.xhgg.2021.100034 Phenotypes for gene: LSM7 were set to Leukodystrophy; fetal death Review for gene: LSM7 was set to RED