RSPRY1

Chr 16

ring finger and SPRY domain containing 1

Also known as: SEMDFA

NCBI Gene: 89970 ENSG00000159579 UniProt: Q96DX4

RSPRY1 encodes a glycoprotein containing a RING-type zinc finger domain and an SPRY domain. Biallelic mutations cause spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, an autosomal recessive skeletal dysplasia affecting the spine and long bones. This gene is highly constrained against loss-of-function variants in the population.

ResearchSummary from RefSeq, OMIM

This gene encodes a glycoprotein that contains a RING-type zinc finger domain and an SPRY domain of unknown function. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpondyloepimetaphyseal dysplasia, Faden-Alkuraya type

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.19

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

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