Ataxia and cerebellar anomalies - narrow panel
Gene: LARS2
The rating of this gene has been updated following NHS Genomic Medicine Service approvalCreated: 3 Mar 2022, 4:07 p.m. | Last Modified: 3 Mar 2022, 4:07 p.m.
Panel Version: 2.282
There is enough evidence for this gene to be rated GREEN at the next major review.Created: 16 Sep 2020, 7:40 a.m. | Last Modified: 16 Sep 2020, 7:40 a.m.
Panel Version: 2.13
Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene for Perrault syndrome. At least 6 variants reported as compound heterozygotes in three unrelated cases whose varied phenotypes included ataxia (PMID 30737337).Created: 16 Sep 2020, 7:39 a.m. | Last Modified: 16 Sep 2020, 7:39 a.m.
Panel Version: 2.13
Bi-allelic variants in LARS2 cause a range of phenotypes, with some individuals displaying neurological features, including at least three individuals reported with ataxia (reviewed in PMID 32423379)
Sources: Expert listCreated: 12 Sep 2020, 4:53 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Perrault syndrome 4, MIM# 615300; Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021; Leukodystrophy
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag for-review was removed from gene: LARS2.
Source Expert Review Green was added to LARS2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: LARS2 were changed from Perrault syndrome 4, MIM# 615300; Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021; Leukodystrophy to Perrault syndrome 4, OMIM:615300
Tag for-review tag was added to gene: LARS2.
Gene: lars2 has been classified as Amber List (Moderate Evidence).
gene: LARS2 was added gene: LARS2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LARS2 were set to 29205794; 32423379; 30737337 Phenotypes for gene: LARS2 were set to Perrault syndrome 4, MIM# 615300; Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021; Leukodystrophy Review for gene: LARS2 was set to GREEN gene: LARS2 was marked as current diagnostic