Intellectual disability syndromic and non-syndromic
Gene: LARS2

LARS2 (leucyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000011376
EnsemblGeneIds (GRCh37): ENSG00000011376
OMIM: 604544, Gene2Phenotype
LARS2 is in 17 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Perrault syndrome-4 (PRLTS4) is an autosomal recessive disorder primarily characterized by early-onset sensorineural hearing loss in both males and females, and premature ovarian failure (POF) in females. Affected individuals may also develop neurologic involvement, including developmental delay or learning difficulties in childhood or onset of progressive movement abnormalities, such as spasticity, in adulthood. Brain imaging may show progressive leukodystrophy.

Hydrops, lactic acidosis, and sideroblastic anemia (HLASA) is an autosomal recessive multisystem disorder characterized by the onset of hydrops in utero. The severity of the hydrops and the disorder in general is highly variable. At birth, affected infants usually show poor growth, lactic acidosis, pulmonary hypertension with hypoxic respiratory insufficiency, and sideroblastic anemia. More variable features may include hepatosplenomegaly or cholestasis, hypoglycemia, pancreatic insufficiency, and micropenis or hypospadias. Death in infancy may occur. Those who survive tend to have resolution of lactic acidosis and anemia, but may show developmental delay and sensorineural deafness.
Created: 8 Sep 2024, 2:04 a.m. | Last Modified: 8 Sep 2024, 2:04 a.m.

Panel Version: 0.6188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Perrault syndrome 4, MIM# 615300; Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021

Publications

PMID: 29205794, 32423379, 30737337, 26537577, 23541342

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

Created: 8 Sep 2024, 2:04 a.m.
Last Modified: 8 Sep 2024, 2:04 a.m.
Panel version: 0.6188

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Genetic Health Queensland

Phenotypes

Perrault syndrome 4, MIM# 615300
Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021

OMIM

604544

Clinvar variants

Variants in LARS2

Penetrance

None

Publications

Panels with this gene