Rare anaemia
Gene: LARS2
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
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
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.
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.
Tag Q2_21_rating 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)
Tag Q2_21_rating tag was added to gene: LARS2.
Publications for gene: LARS2 were set to
Phenotypes for gene: LARS2 were changed from hydrops/sideroblastic anaemia to Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021
Mode of inheritance for gene: LARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Source NHS GMS was added to LARS2.
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)
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