Leukodystrophy - paediatric
Gene: LSM7

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

39420558

Created: 6 Nov 2024, 11:32 p.m.
Last Modified: 6 Nov 2024, 11:32 p.m.
Panel version: 0.315

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

Created: 6 May 2021, 10:38 a.m.

Panel version: 0.221

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