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Hearing loss

Gene: ROR1

Amber List (moderate evidence)

ROR1 (receptor tyrosine kinase like orphan receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000185483
EnsemblGeneIds (GRCh37): ENSG00000185483
OMIM: 602336, Gene2Phenotype
ROR1 is in 1 panel

2 reviews

Eleanor Williams (Genomics England Curator)

I don't know

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)

I don't know

Single family, homozygous missense variant in sibs; mouse model.
Sources: Expert list
Created: 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

4 Nov 2020, Gel status: 2

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

4 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: ror1 has been classified as Amber List (Moderate Evidence).

2 Jan 2020, Gel status: 0

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