Monogenic hearing loss
Gene: LARS2New review confirms gene status and mode of inheritance; no changes required.Created: 1 Jun 2018, 3:09 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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)]
Comment on list classification: Good evidence from expert reviewer and OMIMCreated: 31 Jan 2016, 7:50 p.m.
Phenotypes for gene: LARS2 were changed from #615300: Perrault syndrome 4 to Perrault syndrome 4, OMIM:615300
Phenotypes for LARS2 were set to #615300: Perrault syndrome 4
Publications for LARS2 were set to PMID:10647888; 12447374; 15779907; 20194621; 23541342; 9408748
Mode of inheritance for LARS2 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
LARS2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert
LARS2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert
LARS2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert