The hereditary spastic paraplegias (HSP) are among the most genetically diverse of all
Mendelian disorders. They comprise a large group of neurodegenerative diseases that may …

SLC4A10 is a plasma-membrane bound transporter that utilizes the Na+ gradient to drive
cellular HCO3− uptake, thus mediating acid extrusion. In the mammalian brain, SLC4A10 is …

Phosphatidylinositol 4-kinase IIIα (PI4KIIIα/PI4KA/OMIM: 600286) is a lipid kinase
generating phosphatidylinositol 4-phosphate (PI4P), a membrane phospholipid with critical …

Ciliopathy disorders due to abnormalities of motile cilia encompass a range of autosomal
recessive conditions typified by chronic otosinopulmonary disease, infertility, situs …

Non-centrosomal microtubules are essential cytoskeletal filaments that are important for
neurite formation, axonal transport, and neuronal migration. They require stabilization by …

Many studies have demonstrated the clinical utility and importance of epilepsy gene panel
testing to confirm the specific aetiology of disease, enable appropriate therapeutic …

Purpose The clinical spectrum of motile ciliopathies includes laterality defects,
hydrocephalus, and infertility as well as primary ciliary dyskinesia when impaired …

SNIP1 (Smad nuclear interacting protein 1) is a widely expressed transcriptional suppressor
of the TGF-β signal-transduction pathway which plays a key role in human spliceosome …

Abstract Oculocutaneous albinism type 1 (OCA1) is caused by pathogenic variants in the
TYR (tyrosinase) gene which encodes the critical and rate-limiting enzyme in melanin …

Background The 100 000 Genomes Project (100K) recruited National Health Service
patients with eligible rare diseases and cancer between 2016 and 2018. PanelApp virtual …