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Table 1 (abstract P1010). INVITAE Panel Results

From: 10th Congress of International Society of Systemic Auto-Inflammatory Diseases (ISSAID)

Relation to Patient

Symptoms?

VUS

Patient*

Yes

NLRC41, IL2RA2

Sister

No

NLRC41

Mother*

Yes

NLRC41, IL2RA2, ADAM173

Father

No

-

Maternal Aunt

Yes

NLRC41, IL2RA2

Maternal Half-Aunt

No

-

Maternal Grandfather

No

IL2RA2

Maternal Grandmother

No

NLRC44

  1. 1c.741_742insAlu (p.Leu247fs), heterozygous, ExAC 0
  2. 2c.76G>C (p.Asp26His), heterozygous, ExAC 0.1%
  3. 3c.179T>C (p.Leu60Pro), heterozygous, ExAC 0
  4. 4c.741_742insAlu (p.Leu247fs), possibly mosaic, ExAC 0
  5. *2.8 Mb duplication from 3q28 to 3q29 on chromosomal microarray (maternal aunt's is in process)
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Pediatric Rheumatology

ISSN: 1546-0096