Monogenic hearing loss
Gene: LARS2EnsemblGeneIds (GRCh38): ENSG00000011376
EnsemblGeneIds (GRCh37): ENSG00000011376
OMIM: 604544, Gene2Phenotype
LARS2 is in 14 panels
5 reviews
Ellen McDonagh (Genomics England Curator)
New review confirms gene status and mode of inheritance; no changes required.Created: 1 Jun 2018, 3:09 p.m.
Lampros Mavrogiannis (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Maria Bitner-Glindzicz (UCL)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Jun Shen (Harvard Medical School)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#615300:Perrault syndrome 4[Hearing loss, more severe at lower frequenciesUpsloping audiograms; Ovarian failure, prematureSmall ovariesSmall uterus; Increased gonadotropin levels (in female patients)]
Damian Smedley (Genomics England Curator)
Comment on list classification: Good evidence from expert reviewer and OMIMCreated: 31 Jan 2016, 7:50 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Perrault syndrome 4, OMIM:615300
- OMIM
- 604544
- Clinvar variants
- Variants in LARS2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Mitochondrial disorders
- Intellectual disability
- Primary ovarian insufficiency
- Rare anaemia
- Monogenic hearing loss
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Fetal hydrops
- Adult onset leukodystrophy
- Fetal anomalies
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: LARS2 were changed from #615300: Perrault syndrome 4 to Perrault syndrome 4, OMIM:615300
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for LARS2 were set to #615300: Perrault syndrome 4
Set publications
Ellen McDonagh (Genomics England Curator)Publications for LARS2 were set to PMID:10647888; 12447374; 15779907; 20194621; 23541342; 9408748
Set Mode of Inheritance
Damian Smedley (Genomics England Curator)Mode of inheritance for LARS2 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)LARS2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)LARS2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)LARS2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert