Centre for Amyloidosis and Acute Phase Proteins


List of Genes

List of genes in the Autoinflammatory NGS Panel - Clinical Indication R413

Gene NameGene SymbolChromosomal Location
caspase recruitment domain family member 14CARD1417q25.3
adenosine deaminaseADA2, previous gene symbol CECR122q11.1
interleukin 1 receptor antagonistIL1RN2q14.1
interleukin 36 receptor antagonistIL36RN2q14.1
lipin 2LPIN218p11.31
MEFV, pyrin innate immunity regulatorMEFV16p13.3
mevalonate kinaseMVK12q24.11
NLR family CARD domain containing 4NLRC42p22.3
NLR family pyrin domain containing 12NLRP1219q13.42
NLR family pyrin domain containing 3NLRP31q44
nucleotide binding oligomerization domain containing 2NOD216q12.1
OTU deubiquitinase with linear linkage specificityOTULIN5p15.2
phospholipase C gamma 2PLCG216q24.1
proteasome subunit beta 8PSMB86p21.32
proteasome subunit beta 4PSMB41q21.3
proteasome subunit beta 9PSMB96p21.32
proline-serine-threonine phosphatase interacting protein 1PSTPIP115q24.3
RANBP2-type and C3HC4-type zinc finger containing 1RBCK120p13
SH3 domain binding protein 2SH3BP24p16.3
solute carrier family 29 member 3SLC29A312p13.31
TNF alpha induced protein 3TNFAIP36q23.3
TNF receptor superfamily member 1ATNFRSF1A10q22.1
transmembrane protein 173TMEM1735q31.2
ubiquitin like modifier activating enzyme 1UBA1Xp11.3

List of Genes in the Hereditary Amyloidosis NGS Panel - Clinical Indication R204

Gene NameGene SymbolChromosomal Location
Amyloid P component, serumAPCS, synonym SAP1q23.2
Apolipoprotein EAPOE19q13.32
Apolipoprotein A4APOA411q23.3
Apolipoprotein A1APOA111q23.3
Apolipoprotein A2APOA21q23.3
Apolipoprotein C2APOC219q13.32
Apolipoprotein C3APOC311q23.3
Serum amyloid A1SAA111p15.1
Serum amyloid A2SAA211p15.1
Serum amyloid A4SAA411p15.1
C-reactive proteinCRP1q23.2
fibrinogen alpha chainFGA4q31.3
Cystatin CCST320p11.21
leukocyte cell derived chemotaxin 2LECT25q31.1
myeloid differentiation primary response 88MYD883p22.2
transforming growth factor beta inducedTGFBI, synonym BIGH35q31.1
Oncostatin M ReceptorOSMR5p13.1
Galectin 7LGALS719q13.2

For carrier, predictive testing or screening of a single gene we recommend the Sanger sequencing method.  For testing of a wider range of genes, in particular for patients with suspected SAIDs, we recommend our NGS gene panel.  The NGS libraries are sequenced on the Illumina MiSeq platform.  The sensitivity of both panels is sufficient to detect somatic variants (<10% of the minor allele frequency). This has enabled us to identify acquired mutations, in particular in patients with Cryopyrin-associated periodic syndrome (CAPS) and Tumor necrosis factor receptor-associated periodic syndrome (TRAPS)