Monogenic hearing loss
Gene: ROR1EnsemblGeneIds (GRCh38): ENSG00000185483
EnsemblGeneIds (GRCh37): ENSG00000185483
OMIM: 602336, Gene2Phenotype
ROR1 is in 1 panel
2 reviews
Eleanor Williams (Genomics England Curator)
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
Zornitza Stark (Australian Genomics)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Deafness, autosomal recessive 108, MIM#617654
- deafness, autosomal recessive 108 MONDO:0033200
- OMIM
- 602336
- Clinvar variants
- Variants in ROR1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)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
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: ror1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)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