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  2. Parathyroid Tumour

Parathyroid Tumour (Version 1.2)

Level 2: Cancer Predisposition

Panel types: Victorian Clinical Genetics Services, Genetic Health Queensland, Cancer Germline, Adult Genetics Unit, Royal Adelaide Hospital
Description
This panel contains genes associated with parathyroid tumour. 

Only ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with parathyroid tumour 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)

6 Entities

6 reviewed, 6 green

List Entity Reviews Mode of inheritance Details
6 Entitiess
Green List (high evidence)
CASR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Tumor of parathyroid gland, MONDO:0021360
  • Familial hypocalciuric hypercalcemia 1, MONDO:0007791
  • Hypocalciuric hypercalcemia, type I, MIM#145980
  • Hypocalcemia, autosomal dominant, MIM#601198
Tags
Green List (high evidence)
CDC73
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Tumor of parathyroid gland, MONDO:0021360
  • Hyperparathyroidism 2 with jaw tumors, MONDO:0007768
  • Hyperparathyroidism-jaw tumor syndrome, MIM#145001
  • Hyperparathyroidism, familial primary, MIM#145000
Tags
Green List (high evidence)
CDKN1B
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Tumor of parathyroid gland, MONDO:0021360
  • Multiple endocrine neoplasia type 4, MONDO:0012552
  • Multiple endocrine neoplasia, type 4, MIM#610755
Tags
Green List (high evidence)
GCM2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Tumor of parathyroid gland, MONDO:0021360
  • Hyperparathyroidism 4, MONDO:0024570
  • Hyperparathyroidism 4, MIM#617343
Tags
Green List (high evidence)
MEN1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Tumor of parathyroid gland, MONDO:0021360
  • Multiple endocrine neoplasia type 1, MONDO:0007540
  • Multiple endocrine neoplasia, type 1, MIM#131100
Tags
Green List (high evidence)
RET
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Tumor of parathyroid gland, MONDO:0021360
  • 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

Major version comments

  • 2024-10-09 03:42 Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics) promoted panel to 1.0
    Promoted to V1.

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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