Monogenic hearing loss
Gene: CLRN1New review confirms gene status and mode of inheritance; no changes required.Created: 11 Oct 2018, 1:42 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#276902:Usher syndrome, type 3A[Hearing loss, sensorineural, progressive post-lingualVestibular dysfunction, variable; Retinitis pigmentosaNyctalopiaProgressive restriction of visual feildsReduction of central visual acuity]; #614180:Retinitis pigmentosa 61
Publications
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 3:06 p.m.
Phenotypes for CLRN1 were set to hearing loss; #276902:Usher syndrome, type 3A; Retinitis pigmentosa 61, 614180;
Publications for CLRN1 were set to PMID:11524702; 12080385; 12145752; 14569126; 15521980; 19414487; 20717163; 21310491; 7711740; 8975700; 9719374
Mode of inheritance for CLRN1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
CLRN1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert
CLRN1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert
CLRN1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert
CLRN1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert