ROR1

Chr 1

ROR family WNT receptor 1

Also known as: NTRKR1, dJ537F10.1

NCBI Gene: 4919 ENSG00000185483 UniProt: Q01973

The protein is a receptor tyrosine kinase-like orphan receptor that modulates neurite growth in the central nervous system and is crucial for spiral ganglion neurons to innervate auditory hair cells in the inner ear. Mutations cause autosomal recessive deafness (deafness, autosomal recessive 108). The gene is highly constrained against loss-of-function variants (pLI = 0.996, LOEUF = 0.267), indicating that complete loss of protein function is likely pathogenic.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a receptor tyrosine kinase-like orphan receptor that modulates neurite growth in the central nervous system. The encoded protein is a glycosylated type I membrane protein that belongs to the ROR subfamily of cell surface receptors. It is a pseudokinase that lacks catalytic activity and may interact with the non-canonical Wnt signalling pathway. This gene is highly expressed during early embryonic development but expressed at very low levels in adult tissues. Increased expression of this gene is associated with B-cell chronic lymphocytic leukaemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2012]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDeafness, autosomal recessive, 108

Clinical highlights

Gene-disease validity (ClinGen)

nonsyndromic genetic hearing loss · ARLimitednot for standalone diagnostic reporting

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

106

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.27

LOEUF· LoF intol.

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Mechanism

Some data sources returned errors (1)