Monogenic hearing loss
Gene: ROR1
Comment on list classification: Promoting this gene from grey to amber as there is 1 familial case plus a mouse model that replicates the disease.Created: 4 Nov 2020, 2:57 p.m. | Last Modified: 4 Nov 2020, 2:57 p.m.
Panel Version: 2.103
Provisionally associated with ?Deafness, autosomal recessive 108 #617654 (AR) in OMIM.
PMID: 27162350 - Diaz-Horta et al 2016 - report consanguineous family of Turkish origin with 2 sibs with autosomal recessive deafness and found by WES a whole- variant (c.2207G>C, p.R736T) in ROR1 that cosegregating with deafness in the family and was absent in 330 ethnicity-matched controls and Exac, 1000 genomes and EVA. Ror1 mutant mice are severely deaf and in functional studies it was found that the mutation prevents the protein from reaching the cellular membrane.Created: 4 Nov 2020, 2:57 p.m. | Last Modified: 4 Nov 2020, 2:57 p.m.
Panel Version: 2.102
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Deafness, autosomal recessive 108, 617654; deafness, autosomal recessive 108 MONDO:0033200
Publications
Single family, homozygous missense variant in sibs; mouse model.
Sources: Expert listCreated: 2 Jan 2020, 5:17 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Deafness, autosomal recessive 108, MIM#617654
Publications
Phenotypes for gene: ROR1 were changed from Deafness, autosomal recessive 108, MIM#617654 to Deafness, autosomal recessive 108, MIM#617654; deafness, autosomal recessive 108 MONDO:0033200
Gene: ror1 has been classified as Amber List (Moderate Evidence).
gene: ROR1 was added gene: ROR1 was added to Hearing loss. Sources: Expert list Mode of inheritance for gene: ROR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ROR1 were set to 27162350 Phenotypes for gene: ROR1 were set to Deafness, autosomal recessive 108, MIM#617654 Review for gene: ROR1 was set to AMBER