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Genetic findings from conclusive cases.

Explore genes and variants identified in conclusive exome and genome results. This feed presents technical findings published by our team; the meaning of each result depends on its clinical context.

Conclusive cases

Published results

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Recorded clinical findings

Pancreatitis (HP:0001733); Acute pancreatitis (HP:0001735); Recurrent pancreatitis (HP:0100027)

  • SPINK1 ENST00000296695.10:c.101A>G (ENSP00000296695.5:p.Asn34Ser)
  • PRSS1 ENST00000311737.12:c.365G>A (ENSP00000308720.7:p.Arg122His)
  • NF1 ENST00000358273.9:c.1642-449A>G
  • IFT140 ENST00000426508.7:c.3874-1G>A
Recorded clinical findings

Abnormal corpus callosum morphology (HP:0001273); Cerebral atrophy (HP:0002059); Leukoencephalopathy (HP:0002352)

  • TMEM163 ENST00000281924.6:c.227T>C (ENSP00000281924.6:p.Leu76Pro)
Recorded clinical findings

Abnormality of eye movement (HP:0000496); Global developmental delay (HP:0001263); Hypertonia (HP:0001276); Encephalopathy (HP:0001298); Hyperreflexia (HP:0001347); Diarrhea (HP:0002014); Gastroesophageal reflux (HP:0002020); Axial hypotonia (HP:0008936)

  • EXOSC3 ENST00000327304.10:c.395A>C (ENSP00000323046.4:p.Asp132Ala)
Recorded clinical findings

Brachycephaly (HP:0000248); Epicanthus (HP:0000286); Full cheeks (HP:0000293); Micrognathia (HP:0000347); Posteriorly rotated ears (HP:0000358); Cupped ear (HP:0000378); Telecanthus (HP:0000506); Upslanted palpebral fissure (HP:0000582); Hypotonia (HP:0001252); Global developmental delay (HP:0001263); Premature birth (HP:0001622); Preauricular pit (HP:0004467)

  • MYL12A DEL chr18:48463-14853910
Recorded clinical findings

Hypogonadism (HP:0000135); High palate (HP:0000218); Epicanthus (HP:0000286); Long eyelashes (HP:0000527); Autism (HP:0000717); Autistic behavior (HP:0000729); Seizure (HP:0001250); Global developmental delay (HP:0001263); Intrauterine growth retardation (HP:0001511); Premature birth (HP:0001622); Recurrent respiratory infections (HP:0002205); Recurrent fractures (HP:0002757); Hypercholesterolemia (HP:0003124); Short stature (HP:0004322); Laryngotracheal stenosis (HP:0004894); Epileptic spasm (HP:0011097); Neurodevelopmental delay (HP:0012758); Eosinophilic infiltration of the esophagus (HP:0410151)

  • LDLR ENST00000558518.6:c.670G>A (ENSP00000454071.1:p.Asp224Asn)
Recorded clinical findings

Disproportionate tall stature (HP:0001519); Aortic aneurysm (HP:0004942); High myopia (HP:0011003)

  • FBN1 ENST00000316623.10:c.6438_6441delinsCAC (ENSP00000325527.5:p.Gly2147ThrfsTer13)
  • ABCA4 ENST00000370225.4:c.5882G>A (ENSP00000359245.3:p.Gly1961Glu)
  • HIBCH ENST00000359678.10:c.488G>T (ENSP00000352706.5:p.Cys163Phe)
Recorded clinical findings

Visual impairment (HP:0000505); Progressive visual loss (HP:0000529)

  • MT-ND4 ENST00000361381.2:c.1019G>A (ENSP00000354961.2:p.Arg340His)
  • PDE6B ENST00000496514.6:c.1860del (ENSP00000420295.1:p.His620GlnfsTer23)
  • COL1A1 ENST00000225964.10:c.3967C>T (ENSP00000225964.6:p.His1323Tyr)

How to interpret

Each result represents an individual investigation.

These records show technical findings and do not, by themselves, describe a treatment or change in care. A conclusive result connects the genetic finding to the case; it does not predict other people's results.

Patient guide: understanding your report