Deafness_IsolatedAndComplex
Gene: ROR1
ROR1 (receptor tyrosine kinase like orphan receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000185483
EnsemblGeneIds (GRCh37): ENSG00000185483
OMIM: 602336, Gene2Phenotype
ROR1 is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000185483
EnsemblGeneIds (GRCh37): ENSG00000185483
OMIM: 602336, Gene2Phenotype
ROR1 is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Single family, homozygous missense variant in sibs; mouse model.
Sources: Expert listCreated: 1 Jan 2020, 4:41 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
- Expert list
- Phenotypes
-
- Deafness, autosomal recessive 108, MIM# 617654
- OMIM
- 602336
- Clinvar variants
- Variants in ROR1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
1 Jan 2020, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ror1 has been classified as Amber List (Moderate Evidence).
1 Jan 2020, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ror1 has been classified as Amber List (Moderate Evidence).
1 Jan 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ROR1 was added gene: ROR1 was added to Deafness_MelbourneGenomics_VCGS. 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