Leukodystrophy - paediatric
Gene: LSM7
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
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: LiteratureCreated: 6 May 2021, 10:38 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy; fetal death
Publications
Publications for gene: LSM7 were set to https://doi.org/10.1016/j.xhgg.2021.100034
Phenotypes for gene: LSM7 were changed from Leukodystrophy; fetal death to leukodystrophy MONDO:0019046, LRM7-related
Gene: lsm7 has been classified as Amber List (Moderate Evidence).
Gene: lsm7 has been classified as Red List (Low Evidence).
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