Description
This panel is used for clinical indication 'R217 Multiple endocrine neoplasia type 1', 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 'R217 Multiple endocrine neoplasia type 1'.

The content of this panel (version 1.3: https://panelapp.genomicsengland.co.uk/api/v1/panels/648/?version=1.3) was signed off under NHS Genomic Medicine Service governance on (15/10/2020).

This panel will continue to be curated based on external reviews and Genomics England curation. 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.  The content that is agreed for the GMS panels will be reflected in an updated version number. 

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.

7 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Sian Ellard (University of Exeter Medical School)

    Group: other
    Workplace: other

  • 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

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

14 Entities

14 reviewed, 5 green

List Entity Reviews Mode of inheritance Details
14 Entitiess
Green Green List (high evidence)
AIP
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Endocrine Cancer
  • Pituitary adenoma, growth hormone-secreting, 102200
  • pituitary tumours
  • Familial Isolated Pituitary Adenomas
  • Pituitary adenoma, prolactin-secreting, 600634
  • Pituitary adenoma, ACTH-secreting, 219090
Tags
Green Green List (high evidence)
CDC73
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Endocrine Cancer
Tags
Green Green List (high evidence)
CDKN1B
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Multiple endocrine neoplasia, type IV, OMIM:610755
Tags
Green Green List (high evidence)
MEN1
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Endocrine Cancer
  • pituitary tumours
  • Multiple Endocrine Neoplasia Type 1: MEN1 Gene Deletion/Duplication
  • Parathyroid adenoma, somatic
  • Multiple endocrine neoplasia 1, 131100
  • Carcinoid tumor of lung
  • Angiofibroma, somatic
  • Adrenal adenoma, somatic
  • Lipoma, somatic
  • MEN1-like spectrum
  • Multiple Endocrine Neoplasia
Tags
Green Green List (high evidence)
RET
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • MEN2-like spectrum
  • Multiple Endocrine Neoplasia Type 2: RET Gene Deletion/Duplication
  • Multiple endocrine neoplasia IIA, 171400
  • Endocrine Cancer
  • Multiple Endocrine Neoplasia
Tags
Amber Amber List (moderate evidence)
EGFR
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Adrenocortical carcinoma
Tags
Amber Amber List (moderate evidence)
MLH1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Amber
Tags
  • Q2_21_NHS_review
  • Q2_21_phenotype
  • Q2_21_rating
Amber Amber List (moderate evidence)
MSH2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Amber
Tags
  • Q2_21_NHS_review
  • Q2_21_phenotype
  • Q2_21_rating
Amber Amber List (moderate evidence)
MSH6
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Amber
Tags
  • Q2_21_NHS_review
  • Q2_21_phenotype
  • Q2_21_rating
Amber Amber List (moderate evidence)
PMS2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Amber
Tags
  • Q2_21_NHS_review
  • Q2_21_phenotype
  • Q2_21_rating
Amber Amber List (moderate evidence)
PRKAR1A
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Endocrine Cancer
Tags
  • for-review
Amber Amber List (moderate evidence)
PTEN
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Amber
Tags
  • Q2_21_NHS_review
  • Q2_21_phenotype
  • Q2_21_rating
Amber Amber List (moderate evidence)
TP53
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Endocrine Cancer
  • Paragangliomas 1, with or without deafness, 168000
  • Pheochromocytoma, 171300
  • Carcinoid tumors, intestinal, 114900
  • Merkel cell carcinoma, somatic
  • Paraganglioma and gastric stromal sarcoma, 606864
  • Cowden syndrome 3, 615106
Tags
  • for-review
Amber Amber List (moderate evidence)
VHL
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Endocrine Cancer
  • Paragangliomas 1, with or without deafness, 168000
  • Pheochromocytoma, 171300
  • Carcinoid tumors, intestinal, 114900
  • Merkel cell carcinoma, somatic
  • Paraganglioma and gastric stromal sarcoma, 606864
  • Cowden syndrome 3, 615106
Tags
  • for-review

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