B9D1

Chr 17AR

B9 domain containing 1

Also known as: B9, EPPB9, JBTS27, MKS9, MKSR-1, MKSR1

NCBI Gene: 27077 ENSG00000108641 UniProt: Q9UPM9 OMIM: 614144

The protein is a component of the tectonic-like complex that localizes to the transition zone of primary cilia and functions as a barrier preventing diffusion of transmembrane proteins between cilia and plasma membranes, and is required for ciliogenesis and sonic hedgehog signaling. Mutations cause Meckel syndrome 9 and Joubert syndrome 27, both severe ciliopathies affecting multiple organ systems including the brain, kidneys, and liver. Inheritance is autosomal recessive.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. Meckel syndrome has been associated with at least six different genes. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Mar 2016]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Meckel syndrome 9MIM #614209

Joubert syndrome 27MIM #617120

Clinical highlights

Gene-disease validity (ClinGen)

ciliopathy · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.95

LOEUF

LOF

Mechanism· G2P

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GeneReview available — B9D1