Description
This panel is used for clinical indication 'R151 Familial hyperparathyroidism', 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 'R151 Familial hyperparathyroidism'.

The content of this panel (version 2.3: https://panelapp.genomicsengland.co.uk/api/v1/panels/480/?version=2.3) was signed off under NHS Genomic Medicine Service governance on (03/03/2020).

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.

3 reviewers

  • Treena Cranston (Oxford)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

10 Entities

10 reviewed, 6 green

List Entity Reviews Mode of inheritance Details
10 Entitiess
Green Green List (high evidence)
AP2S1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Hypocalciuric hypercalcemia, type III, 600740
Tags
Green Green List (high evidence)
CASR
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hyperparathyroidism, neonatal (239200)
  • Hypocalcemia, autosomal dominant (601198)
  • Familial isolated hyperparathyroidism
  • FHH1
Tags
Green Green List (high evidence)
CDC73
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hyperparathyroidism, familial primary (145000)
  • Hyperparathyroidism-jaw tumor syndrome (145001)
Tags
Green Green List (high evidence)
CDKN1B
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Multiple endocrine neoplasia, type IV, OMIM:610755
Tags
Green Green List (high evidence)
MEN1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Multiple endocrine neoplasia 1 (131100)
  • Familial isolated hyperparathyroidism
Tags
Green Green List (high evidence)
RET
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Multiple endocrine neoplasia IIB (162300)
  • Multiple endocrine neoplasia IIA (171400)/MEN3
Tags
Amber Amber List (moderate evidence)
CDKN1A
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • UKGTN
Phenotypes
  • No OMIM number
  • Multiple endocrine neoplasia 1
Tags
  • watchlist
Amber Amber List (moderate evidence)
CDKN2B
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • UKGTN
Phenotypes
  • No OMIM number
  • Multiple endocrine neoplasia 1
Tags
  • watchlist
Amber Amber List (moderate evidence)
CDKN2C
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • UKGTN
Phenotypes
  • No OMIM number
  • Multiple endocrine neoplasia 1
Tags
  • watchlist
Amber Amber List (moderate evidence)
GCM2
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypoparathyroidism, familial isolated (146200)
  • Hyperparathyroidism 4 (617343)
Tags
  • for-review

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