Paraganglioma_phaeochromocytoma (Version 1.1)

Description

This panel contains genes associated with paraganglioma and phaeochromocytoma.

Further information on the testing criteria for paraganglioma and phaeochromocytoma can be found at eviQ:
https://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3601-paraganglioma-phaeochromocytoma-panel-testi

Only ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with paraganglioma and phaeochromocytoma and are clinically actionable for diagnostic and/or predictive genetic testing.

Ensure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.

This panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.

This panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).

Panel Activity

1 reviewer

Chirag Patel (Genetic Health Queensland)

18 Entities

18 reviewed, 12 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 18 Entitiess
Green Green List (high evidence)	FH	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Expert Review Green Phenotypes Paraganglioma, MONDO:0000448 Pheochromocytoma, MONDO:0008233 Hereditary leiomyomatosis and renal cell cancer, MONDO:0007888 Leiomyomatosis and renal cell cancer, MIM#150800 Tags
Green Green List (high evidence)	MAX	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Expert Review Green Phenotypes Paraganglioma, MONDO:0000448 Pheochromocytoma, MONDO:0008233 Hereditary pheochromocytoma-paraganglioma, MONDO:0017366 Pheochromocytoma, susceptibility to, MIM#171300 Tags
Green Green List (high evidence)	MEN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Expert Review Green Phenotypes Paraganglioma, MONDO:0000448 Pheochromocytoma, MONDO:0008233 Multiple endocrine neoplasia type 1, MONDO:0007540 Multiple endocrine neoplasia, type 1, MIM#131100 Tags
Green Green List (high evidence)	NF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Expert Review Green Phenotypes Paraganglioma, MONDO:0000448 Pheochromocytoma, MONDO:0008233 Neurofibromatosis type 1, MONDO:0018975 Neurofibromatosis, type 1, MIM#162200 Tags
Green Green List (high evidence)	RET	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Expert Review Green Phenotypes Paraganglioma, MONDO:0000448 Pheochromocytoma, MONDO:0008233 Multiple endocrine neoplasia type 2A, MONDO:0008234 Multiple endocrine neoplasia type 2B, MONDO:0008082 Multiple endocrine neoplasia, type 2A, MIM#171400 Multiple endocrine neoplasia, type 2B, MIM#162300 Pheochromocytoma, MIM#171300 Medullary thyroid carcinoma, MIM#155240 Pheochromocytoma, susceptibility to, MIM#171300 Tags
Green Green List (high evidence)	SDHA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Expert Review Green Phenotypes Paragangliomas 5, MONDO:0013602 Pheochromocytoma, MONDO:0008233 Hereditary pheochromocytoma-paraganglioma, MONDO:0017366 Pheochromocytoma/paraganglioma syndrome 5, MIM#614165 Tags
Green Green List (high evidence)	SDHAF2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Expert Review Green Phenotypes Paragangliomas 2, MONDO:0011121 Pheochromocytoma, MONDO:0008233 Hereditary pheochromocytoma-paraganglioma, MONDO:0017366 Pheochromocytoma/paraganglioma syndrome 2, MIM#601650 Tags
Green Green List (high evidence)	SDHB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Expert Review Green Phenotypes Paragangliomas 4, MONDO:0007273 Pheochromocytoma, MONDO:0008233 Hereditary pheochromocytoma-paraganglioma, MONDO:0017366 Pheochromocytoma/paraganglioma syndrome 4, MIM#115310 Tags
Green Green List (high evidence)	SDHC	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Expert Review Green Phenotypes Paragangliomas 3, MONDO:0011544 Pheochromocytoma, MONDO:0008233 Hereditary pheochromocytoma-paraganglioma, MONDO:0017366 Pheochromocytoma/paraganglioma syndrome 3, MIM#605373 Tags
Green Green List (high evidence)	SDHD	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Expert Review Green Phenotypes Paragangliomas 1, MONDO:0008192 Pheochromocytoma, MONDO:0008233 Hereditary pheochromocytoma-paraganglioma, MONDO:0017366 Pheochromocytoma/paraganglioma syndrome 1, MIM#168000 Tags
Green Green List (high evidence)	TMEM127	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Expert Review Green Phenotypes Paraganglioma, MONDO:0000448 Pheochromocytoma, MONDO:0008233 Hereditary pheochromocytoma-paraganglioma, MONDO:0017366 Pheochromocytoma, susceptibility to, MIM#171300 Tags
Green Green List (high evidence)	VHL	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Expert Review Green Phenotypes Paraganglioma, MONDO:0000448 Pheochromocytoma, MONDO:0008233 Von Hippel-Lindau disease, MONDO:0008667 von Hippel-Lindau syndrome, MIM#193300 Pheochromocytoma, susceptibility to, MIM#171300 Tags
Red Red List (low evidence)	DLST	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Expert Review Red Literature Phenotypes Paragangliomas 7, MONDO:0032771 Pheochromocytoma, MONDO:0008233 Hereditary pheochromocytoma-paraganglioma, MONDO:0017366 Pheochromocytoma/paraganglioma syndrome 7, MIM#618475 Tags
Red Red List (low evidence)	EGLN1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Expert Review Red Literature Phenotypes Paraganglioma, MONDO:0000448 Pheochromocytoma, MONDO:0008233 Pheochromocytoma/paraganglioma, susceptibility to, no MIM# Erythrocytosis, familial, 3, MIM#609820 Tags
Red Red List (low evidence)	EPAS1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Expert Review Red Literature Phenotypes Paraganglioma, MONDO:0000448 Pheochromocytoma, MONDO:0008233 Pheochromocytoma/paraganglioma, susceptibility to, no MIM# Erythrocytosis, familial, 4, MIM#611783 Tags
Red Red List (low evidence)	MDH2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Expert Review Red Literature Phenotypes Paraganglioma, MONDO:0000448 Pheochromocytoma, MONDO:0008233 Pheochromocytoma/paraganglioma, susceptibility to, no MIM# Developmental and epileptic encephalopathy 51, MIM#617339 Tags
Red Red List (low evidence)	PRKAR1A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Expert Review Red Literature Phenotypes Paraganglioma, MONDO:0000448 Pheochromocytoma, MONDO:0008233 Carney complex, type 1, MIM#160980 Tags
Red Red List (low evidence)	SLC25A11	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Expert Review Red Literature Phenotypes Paragangliomas 6, MONDO:0032767 Pheochromocytoma, MONDO:0008233 Hereditary pheochromocytoma-paraganglioma, MONDO:0017366 Pheochromocytoma/paraganglioma syndrome 6, MIM#618464 Tags

Major version comments

2024-10-09 03:18 Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics) promoted panel to 1.0
Promoted to V1.

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