Table 4 Gene panels of PPGLs based on current evidence

From: Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas

Gene

Review status*

Targeted panel‡

Gene target area

FH

3

Basic

All coding exon–intron boundaries

MAX

4

Basic

All coding exon–intron boundaries

NF1

4

Basic

All coding exon–intron boundaries

RET

4

Basic

Exons 8, 10, 11, 13–16

SDHA

3

Basic

All coding exon–intron boundaries

SDHB

4

Basic

All coding exon–intron boundaries

SDHC

4

Basic

All coding exon–intron boundaries

SDHD

4

Basic

All coding exon–intron boundaries

TMEM127

4

Basic

All coding exon–intron boundaries

VHL

4

Basic

All coding exon–intron boundaries

EGLN1/PHD2

2

Extended

All coding exon–intron boundaries

EPAS1

4

Extended

Exons 9, 12

KIF1B

2

Extended

All coding exon–intron boundaries

MET

2

Extended

All coding exon–intron boundaries

SDHAF2

2

Extended

All coding exon–intron boundaries

ATRX

2

Comprehensive

All coding exon–intron boundaries

BRAF

1

Comprehensive

All coding exon–intron boundaries

CDKN2A

1

Comprehensive

All coding exon–intron boundaries

EGLN2/PHD1

1

Comprehensive

All coding exon–intron boundaries

FGFR1

2

Comprehensive

Exons 11, 13

H3F3A

1

Comprehensive

All coding exon–intron boundaries

HRAS

4

Comprehensive

All coding exon–intron boundaries

IDH2

1

Comprehensive

All coding exon–intron boundaries

KMT2D

1

Comprehensive

All coding exon–intron boundaries

MDH2

1

Comprehensive

All coding exon–intron boundaries

MERTK

1

Comprehensive

All coding exon–intron boundaries

TP53

2

Comprehensive

All coding exon–intron boundaries

  1. PPGLs, phaeochromocytomas and/or paragangliomas.
  2. *Based on ClinVar, related to Table 2.
  3. ‡Related to Table 3.
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