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Answers that arrived through genomics.

Follow the conclusive exome and genome findings as soon as the results are released by our team.

Conclusive cases

Latest releases

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Hypertrophic cardiomyopathy (HP:0001639); Dilated cardiomyopathy (HP:0001644); Asymmetric septal hypertrophy (HP:0001670); Dyspnea (HP:0002094); Abnormal left ventricular function (HP:0005162); Elevated right atrial pressure (HP:0005168); Thoracic aortic aneurysm (HP:0012727)

  • MYH7 ENST00000355349.4:c.611G>A (ENSP00000347507.3:p.Arg204His)

Epicanthus (HP:0000286); Wide nasal bridge (HP:0000431); Hypertrophic cardiomyopathy (HP:0001639); Inheritance qualifier (HP:0034335)

  • LAMP2 ENST00000200639.9:c.352_356del (ENSP00000200639.4:p.Tyr118HisfsTer3)
  • SERPINA1 ENST00000393087.9:c.863A>T (ENSP00000376802.4:p.Glu288Val)
  • CYP21A2 ENST00000644719.2:c.955C>T (ENSP00000496625.1:p.Gln319Ter)

Hypertrophic cardiomyopathy (HP:0001639); Subvalvular aortic stenosis (HP:0001682); Right ventricular failure (HP:0001708); Palpitations (HP:0001962); Dyspnea (HP:0002094); Chest pain (HP:0100749)

  • MYH7 ENST00000355349.4:c.2389G>A (ENSP00000347507.3:p.Ala797Thr)
  • F2 ENST00000311907.10:c.*97G>A

Multiple cafe-au-lait spots (HP:0007565)

  • NF1 ENST00000358273.9:c.5902C>T (ENSP00000351015.4:p.Arg1968Ter)

Stroke (HP:0001297)

  • ABCC6 ENST00000205557.12:c.1171A>G (ENSP00000205557.7:p.Arg391Gly)

Hypotonia (HP:0001252); Severe global developmental delay (HP:0011344)

  • MECP2 ENST00000453960.7:c.799C>T (ENSP00000395535.2:p.Arg267Ter)
  • ITPR1 ENST00000649015.2:c.839C>T (ENSP00000497605.1:p.Ala280Val)
  • COL4A2 ENST00000360467.7:c.4275del (ENSP00000353654.5:p.Gly1426GlufsTer33)

Peritonitis (HP:0002586); Miscarriage (HP:0005268); Recurrent aphthous stomatitis (HP:0011107)

  • MYO3A ENST00000642920.2:c.2506-1G>A
  • GHRHR ENST00000326139.7:c.713C>A (ENSP00000320180.2:p.Ser238Ter)
  • ACADM ENST00000370841.9:c.199T>C (ENSP00000359878.5:p.Tyr67His)
  • CTH ENST00000370938.8:c.200C>T (ENSP00000359976.3:p.Thr67Ile)
  • ORC6 ENST00000219097.7:c.2T>C (ENSP00000219097.2:p.Met1?)

Left ventricular hypertrophy (HP:0001712); Stage 5 chronic kidney disease (HP:0003774); Abnormal circulating enzyme concentration or activity (HP:0012379)

  • NPHS1 ENST00000378910.10:c.1930+5G>A
  • CSRP3 ENST00000265968.9:c.434T>G (ENSP00000265968.3:p.Phe145Cys)

How to interpret

Each result represents an individual investigation.

A conclusive result links the genetic findings to the case and, when HPO terms are recorded, to the corresponding clinical picture. It does not predict the outcome of others or replace medical judgment.