Rare anaemia
Gene: LARS2EnsemblGeneIds (GRCh38): ENSG00000011376
EnsemblGeneIds (GRCh37): ENSG00000011376
OMIM: 604544, Gene2Phenotype
LARS2 is in 14 panels
4 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 9:06 a.m. | Last Modified: 1 Feb 2023, 9:06 a.m.
Panel Version: 2.3
Arina Puzriakova (Genomics England Curator)
Associated with relevant phenotype in OMIM (MIM #617021). At least 4 cases from 3 unrelated families with biallelic LARS2 variants whose phenotypes include anemia in all - with sideroblastic anemia confirmed in the two patients who had a bone marrow aspirate. Anemia did resolve in the two less severely affected sibs (PMIDs: 26537577; 32442335).
Overall sufficient unrelated cases (3) with anemia in patients with LARS2 variants for inclusion on this panel as diagnostic-grade (Green).Created: 13 Apr 2021, 9:59 a.m. | Last Modified: 13 Apr 2021, 9:59 a.m.
Panel Version: 1.21
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021
Publications
Louise Daugherty (Genomics England Curator)
Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: LARS2; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: not submitted ; Phenotypes: hydrops/sideroblastic anaemia; PMID(s): none submittedCreated: 6 Feb 2019, 12:14 p.m.
Carl Fratter (Oxford University Hospitals NHS Trust)
Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.Created: 6 Feb 2019, 12:13 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Wessex and West Midlands GLH
- Phenotypes
-
- Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021
- OMIM
- 604544
- Clinvar variants
- Variants in LARS2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Ataxia and cerebellar anomalies - narrow panel
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Primary ovarian insufficiency
- Rare anaemia
- Monogenic hearing loss
- Adult onset leukodystrophy
- Fetal anomalies
- Undiagnosed metabolic disorders
- Fetal hydrops
History Filter Activity
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_21_rating was removed from gene: LARS2.
Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Green was added to LARS2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q2_21_rating tag was added to gene: LARS2.
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: LARS2 were set to
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: LARS2 were changed from hydrops/sideroblastic anaemia to Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: LARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to LARS2.
Added New Source, Set Phenotypes, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Amber was added to LARS2. Added phenotypes hydrops/sideroblastic anaemia for gene: LARS2 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: LARS2 was added gene: LARS2 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: LARS2 was set to