Logo NeoGenomica
Results

Solved cases For professionals

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

Automatic check for new records

Recorded clinical findings

Hearing impairment (HP:0000365); Thin skin (HP:0000963); Hyperextensible skin (HP:0000974); Bruising susceptibility (HP:0000978); Striae distensae (HP:0001065); Atrophic scars (HP:0001075); Joint hypermobility (HP:0001382); Abnormality of connective tissue (HP:0003549); Abnormal blistering of the skin (HP:0008066); Bilateral sensorineural hearing impairment (HP:0008619); Fatigue (HP:0012378); Bowel irritability (HP:0033628)

  • GJB2 ENST00000382848.5:c.35del (ENSP00000372299.4:p.Gly12ValfsTer2)
Recorded clinical findings

Anxiety (HP:0000739); Seizure (HP:0001250); Sudden cardiac death (HP:0001645); Tachycardia (HP:0001649); Palpitations (HP:0001962); Ventricular arrhythmia (HP:0004308); Arrhythmia (HP:0011675); Chest pain (HP:0100749)

  • KIF4A DUP chrX:69991964-70395747
  • PKP2 ENST00000340811.9:c.2014-1477_2014-1428del
  • CRTAP ENST00000320954.11:c.471+2C>A
  • XPA ENST00000375128.5:c.682C>T (ENSP00000364270.5:p.Arg228Ter)
Recorded clinical findings

High palate (HP:0000218); Bulbous nose (HP:0000414); Intellectual disability (HP:0001249); Short stature (HP:0004322); Thick vermilion border (HP:0012471); Neoplasm of the lung (HP:0100526); Palpebral edema (HP:0100540)

  • MED13L ENST00000281928.9:c.5096G>A (ENSP00000281928.3:p.Trp1699Ter)
Recorded clinical findings

Proteinuria (HP:0000093); Hypertension (HP:0000822); Unilateral renal hypoplasia (HP:0012583); Chronic kidney disease (HP:0012622)

  • INF2 ENST00000392634.9:c.658G>A (ENSP00000376410.4:p.Glu220Lys)
Recorded clinical findings

Protruding ear (HP:0000411); Diastema (HP:0000699); Psychosis (HP:0000709); Motor delay (HP:0001270); Impaired vibratory sensation (HP:0002495); Recurrent infections (HP:0002719); High myopia (HP:0011003); Abnormal number of permanent teeth (HP:0011044); Neurodevelopmental delay (HP:0012758)

  • COL4A1 ENST00000375820.10:c.2494G>A (ENSP00000364979.4:p.Gly832Arg)
  • SMN1 ENST00000380707.9:c.469C>T (ENSP00000370083.4:p.Gln157Ter)
Recorded clinical findings

Elevated circulating creatine kinase activity (HP:0003236); Exercise intolerance (HP:0003546); Sulfite oxidase deficiency (HP:0003643); Fatigue (HP:0012378)

  • PYGM ENST00000164139.4:c.2024C>T (ENSP00000164139.3:p.Ser675Leu)
  • PYGM ENST00000164139.4:c.148C>T (ENSP00000164139.3:p.Arg50Ter)
  • NPHS2 ENST00000367615.9:c.686G>A (ENSP00000356587.4:p.Arg229Gln)
Recorded clinical findings

Retinopathy (HP:0000488)

  • CEP250 ENST00000397527.6:c.2094+1G>A
Recorded clinical findings

Tall stature (HP:0000098); Bronchiectasis (HP:0002110); Recurrent bronchopulmonary infections (HP:0006538); Reduced sperm motility (HP:0012207); Ciliary dyskinesia (HP:0012265)

  • PAX1 ENST00000613128.5:c.158C>A (ENSP00000481334.1:p.Ser53Ter)
  • RSPH1 ENST00000291536.8:c.85G>T (ENSP00000291536.3:p.Glu29Ter)
  • CHM ENST00000357749.7:c.167T>A (ENSP00000350386.2:p.Leu56Ter)
  • CYP21A2 ENST00000644719.2:c.188A>T (ENSP00000496625.1:p.His63Leu)
  • NCF1 ENST00000289473.11:c.75_76del (ENSP00000289473.4:p.Tyr26HisfsTer26)
  • CFTR ENST00000003084.11:c.1392G>T (ENSP00000003084.6:p.Lys464Asn)
Recorded clinical findings

Progressive cervical vertebral spine fusion (HP:0008449); Ectopic ossification in muscle tissue (HP:0011987)

  • ACVR1 ENST00000434821.7:c.617G>A (ENSP00000405004.1:p.Arg206His)

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