Red cell disorders
Gene: LARS2EnsemblGeneIds (GRCh38): ENSG00000011376
EnsemblGeneIds (GRCh37): ENSG00000011376
OMIM: 604544, Gene2Phenotype
LARS2 is in 17 panels
1 review
Danielle Ariti (University of Melbourne)
4 individuals from 3 unrelated families reported with bi-allelic missense variants in critical domains; In vitro functional expression studies
HLASA is a multi-system disorder characterised by the onset of hydrops in utero (severity varies). At birth, individuals usually show poor growth, lactic acidosis, pulmonary hypertension with hypoxic respiratory insufficiency, and sideroblastic anaemia. Other features may include hepatosplenomegaly or cholestasis, hypoglycemia, pancreatic insufficiency, and micropenis or hypospadias. Those who progress into early childhood may display resolution of lactic acidosis, anaemia, developmental delay or sensorineural deafness.
All patients presented with hydrops, Lactic acidosis and anaemia.
2 individuals presented with sideroblastic anaemia.Created: 14 Sep 2021, 2 a.m. | Last Modified: 14 Sep 2021, 2 a.m.
Panel Version: 0.128
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hydrops, lactic acidosis, and sideroblastic anaemia MIM# 617021
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Wessex and West Midlands GLH
- NHS GMS
- Phenotypes
-
- Hydrops, lactic acidosis, and sideroblastic anaemia MIM# 617021
- OMIM
- 604544
- Clinvar variants
- Variants in LARS2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Red cell disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Prepair 1000+
- BabyScreen+ newborn screening
- Mitochondrial disease
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Differences of Sex Development
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Deafness_Isolated
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Hereditary Spastic Paraplegia - paediatric
- Ataxia - paediatric
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lars2 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: LARS2 were changed from hydrops/sideroblastic anaemia to Hydrops, lactic acidosis, and sideroblastic anaemia MIM# 617021
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: LARS2 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: LARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Added phenotypes hydrops/sideroblastic anaemia for gene: LARS2
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: LARS2 was added gene: LARS2 was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Amber,Wessex and West Midlands GLH Mode of inheritance for gene: LARS2 was set to Unknown Phenotypes for gene: LARS2 were set to hydrops/sideroblastic anaemia