Rare anaemia

Gene: LARS2

Amber List (moderate evidence)

LARS2 (leucyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000011376
EnsemblGeneIds (GRCh37): ENSG00000011376
OMIM: 604544, Gene2Phenotype
LARS2 is in 15 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

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)

I don't know

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 submitted
Created: 6 Feb 2019, 12:14 p.m.

Carl Fratter (Oxford University Hospitals NHS Trust)

I don't know

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.

History Filter Activity

13 Apr 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: LARS2.

13 Apr 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: LARS2 were set to

13 Apr 2021, Gel status: 2

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

13 Apr 2021, Gel status: 2

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: LARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal

6 Feb 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to LARS2.

6 Feb 2019, Gel status: 2

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)

6 Feb 2019, Gel status: 1

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