Description
This panel is used for clinical indication 'R223 Inherited phaeochromocytoma and paraganglioma', and can also be applied as a virtual panel in the analysis of genome or exome data in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/)  under 'R223 Inherited phaeochromocytoma and paraganglioma'.

The content of this panel is overseen by NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects of the assay(s) available.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

Some of the genes in this panel cause conditions that typically present in adulthood. Please consider this when applying the panel.



The content of this panel (version 1.0: https://panelapp.genomicsengland.co.uk/api/v1/panels/649/?version=1.0) was signed off under NHS Genomic Medicine Service governance on (31/07/2019).

This panel will continue to be curated. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process for the GMS panels.

5 reviewers

  • Treena Cranston (Oxford)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Katie Snape (South London GMC)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Louise IZATT (GSTT Clinical Genetics Service)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

12 Entities

12 reviewed, 11 green

List Entity Reviews Mode of inheritance Details
12 Entitiess
Green Green List (high evidence)
FH
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • PCC/PGL
  • HLRCC
Tags
Green Green List (high evidence)
MAX
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • {Pheochromocytoma, susceptibility to}, 171300
  • Hereditary Paraganglioma-Pheochromocytoma Syndrome
  • pheochromocytomas (PHEOs), paragangliomas (PGLs)
Tags
Green Green List (high evidence)
MEN1
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Multiple endocrine neoplasia type 1 (MEN1)
  • Multiple Endocrine Neoplasia
Tags
Green Green List (high evidence)
RET
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Multiple endocrine neoplasia IIA, 171400Medullary thyroid carcinoma, 155240Multiple endocrine neoplasia IIB, 162300Central hypoventilation syndrome, congenital, 209880Pheochromocytoma, 171300Renal agenesis, 191830{Hirschsprung disease, susceptibility to, 1}, 142623
  • Multiple Endocrine Neoplasia
Tags
Green Green List (high evidence)
SDHA
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hereditary Paraganglioma-Pheochromocytoma Syndrome
  • Leigh syndrome, 256000Mitochondrial respiratory chain complex II deficiency, 252011Cardiomyopathy, dilated, 1GG, 613642Paragangliomas 5, 614165
Tags
Green Green List (high evidence)
SDHAF2
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Paragangliomas 2, 601650
  • Hereditary Paraganglioma-Pheochromocytoma Syndrome
Tags
Green Green List (high evidence)
SDHB
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Paraganglioma and Gastric Stromal Sarcoma
  • Paragangliomas 4, 115310Pheochromocytoma, 171300Paraganglioma and gastric stromal sarcoma, 606864Cowden syndrome 2, 612359Gastrointestinal stromal tumor, 606764
Tags
Green Green List (high evidence)
SDHC
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hereditary Paraganglioma-Pheochromocytoma Syndrome
  • Paragangliomas 3, 605373Paraganglioma and gastric stromal sarcoma, 606864Gastrointestinal stromal tumor, 606764
Tags
Green Green List (high evidence)
SDHD
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hereditary Paraganglioma-Pheochromocytoma Syndrome
  • Paragangliomas 1, with or without deafness, 168000Pheochromocytoma, 171300Carcinoid tumors, intestinal, 114900Merkel cell carcinoma, somaticParaganglioma and gastric stromal sarcoma, 606864Cowden syndrome 3, 615106
Tags
Green Green List (high evidence)
TMEM127
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • {Pheochromocytoma, susceptibility to}, 171300
Tags
Green Green List (high evidence)
VHL
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • von Hippel-Lindau syndrome, 193300Renal cell carcinoma, somatic, 144700Pheochromocytoma, 171300Hemangioblastoma, cerebellar, somaticErythrocytosis, familial, 2, 263400
Tags
Amber Amber List (moderate evidence)
PRKAR1A
4 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Endocrine Cancer
  • Carney complex
Tags

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