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Genômica em prática Ao vivo

Respostas que chegaram pela genômica.

Acompanhe os achados de exomas e genomas conclusivos assim que os resultados são liberados pela nossa equipe.

Casos conclusivos

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  • HBA2 DEL chr16:172001-176000
  • NPHS2 ENST00000367615.9:c.686G>A (ENSP00000356587.4:p.Arg229Gln)
  • ABCC6 ENST00000205557.12:c.2542del (ENSP00000205557.7:p.Met848CysfsTer83)

Autism (HP:0000717); Autistic behavior (HP:0000729); Intellectual disability (HP:0001249); Seizure (HP:0001250); Language impairment (HP:0002463); Speech apraxia (HP:0011098)

  • MT-RNR1 ENST00000389680.2:n.908A>G

Seizure (HP:0001250); Epileptic spasm (HP:0011097)

  • MT-ND6 ENST00000361681.2:c.190A>G (ENSP00000354665.2:p.Met64Val)

Inguinal hernia (HP:0000023); Cardiomyopathy (HP:0001638); Hypertrophic cardiomyopathy (HP:0001639); Dilated cardiomyopathy (HP:0001644); Achalasia (HP:0002571)

  • GUCY1A1 ENST00000506455.6:c.1169T>G (ENSP00000424361.1:p.Leu390Ter)
  • VCP ENST00000358901.11:c.277C>T (ENSP00000351777.6:p.Arg93Cys)

Microcephaly (HP:0000252); Epicanthus (HP:0000286); Micrognathia (HP:0000347); Low-set ears (HP:0000369); Visual impairment (HP:0000505); Long eyelashes (HP:0000527); Blue sclerae (HP:0000592); Restlessness (HP:0000711); Tapered finger (HP:0001182); Seizure (HP:0001250); Hypotonia (HP:0001252); Motor delay (HP:0001270); Hypertonia (HP:0001276); Hyperreflexia (HP:0001347); Ventricular septal defect (HP:0001629); Dysphagia (HP:0002015); Constipation (HP:0002019); Gastroesophageal reflux (HP:0002020); Apnea (HP:0002104); Respiratory paralysis (HP:0002203); Patchy alopecia (HP:0002232); Developmental regression (HP:0002376); Tachypnea (HP:0002789)

  • MECP2 ENST00000453960.7:c.538C>T (ENSP00000395535.2:p.Arg180Ter)

Epicanthus (HP:0000286); Abnormal facial shape (HP:0001999); Cognitive impairment (HP:0100543)

  • CAMK2A ENST00000671881.1:c.635C>T (ENSP00000500386.1:p.Pro212Leu)

Low-set ears (HP:0000369); Proptosis (HP:0000520); Seizure (HP:0001250); Encephalopathy (HP:0001298); Status epilepticus (HP:0002133); EEG abnormality (HP:0002353); Short nose (HP:0003196); Abnormal brain morphology (HP:0012443)

  • BCKDHA ENST00000269980.7:c.137C>A (ENSP00000269980.2:p.Ser46Ter)
  • G6PD ENST00000393562.10:c.376A>G (ENSP00000377192.3:p.Asn126Asp)
  • G6PD ENST00000393562.10:c.202G>A (ENSP00000377192.3:p.Val68Met)

Epistaxis (HP:0000421); Hypotonia (HP:0001252); Global developmental delay (HP:0001263); Thrombocytopenia (HP:0001873); Anemia (HP:0001903); Microcytic anemia (HP:0001935); Nausea and vomiting (HP:0002017); Delayed gross motor development (HP:0002194); Hematochezia (HP:0002573); Increased circulating IgE concentration (HP:0003212); Malnutrition (HP:0004395); Bone marrow hypocellularity (HP:0005528); Feeding difficulties (HP:0011968)

  • WAS ENST00000376701.5:c.82dup (ENSP00000365891.4:p.Gln28ProfsTer10)

Hypermobility of toe joints (HP:0010510); Vasovagal syncope (HP:0012668)

  • APOA1 ENST00000236850.5:c.67C>T (ENSP00000236850.3:p.Gln23Ter)
  • RAG2 ENST00000311485.8:c.1352G>C (ENSP00000308620.4:p.Gly451Ala)
  • MMAB ENST00000545712.7:c.548A>T (ENSP00000445920.1:p.His183Leu)

Como interpretar

Cada resultado representa uma investigação individual.

Um resultado conclusivo relaciona os achados genéticos ao caso e, quando há termos HPO registrados, ao quadro clínico correspondente. Ele não prevê o resultado de outras pessoas nem substitui avaliação médica.