Description
This panel is used as a virtual panel to analyse genome or exome data in the NHS Genomic Medicine Service; the panel will routinely be applied for clinical indication 'R405 Hereditary Erythrocytosis' but can also be used as part of the analysis for a broader clinical presentation, where relevant.

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 'R405 Hereditary Erythrocytosis'.

The content of this panel (version 1.19: https://panelapp.genomicsengland.co.uk/api/v1/panels/157/?version=1.19) was signed off under NHS Genomic Medicine Service governance on (30/09/2020).

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.

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

6 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Daniel Gale (UCL)

    Group: GeCIP domain
    Workplace: Research lab

  • Olivia Niblock (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Catherine Snow (Genomics England)

    Group: Other
    Workplace: Other

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

15 Entities

15 reviewed, 8 green

List Entity Reviews Mode of inheritance Details
15 Entitiess
Green Green List (high evidence)
EGLN1
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Familial Erythrocytosis 609820
  • Polycythaemia
  • paraganglioma
  • phaeochromocytoma
Tags
Green Green List (high evidence)
EPAS1
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Familial Erythrocytosis, 611783
  • Erythrocystosis
  • Pulmonary arterial hypertension
  • paraganglioma
Tags
Green Green List (high evidence)
EPO
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Erythrocytosis, familial, 5 617907
Tags
Green Green List (high evidence)
EPOR
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Other
Phenotypes
  • Polcythaemia
  • erythrocytosis
  • Familial Erythrocytosis
Tags
Green Green List (high evidence)
HBA1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Familial erythrocytosis
Tags
Green Green List (high evidence)
HBA2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Erythrocytosis
Tags
Green Green List (high evidence)
HBB
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Familial erythrocytosis
Tags
  • gene-therapy-trial
Green Green List (high evidence)
VHL
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Familial Erythrocytosis 263400
  • Polycythaemia
  • erythrocytosis
  • pulmonary arterial hypertension
  • thrombosis
  • vertebral haemangioma
  • varicose veins
Tags
Amber Amber List (moderate evidence)
BPGM
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Erythrocytosis, familial, 8 222800
Tags
Amber Amber List (moderate evidence)
JAK2
2 reviews
1 green 1 red
Other
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Erythrocytosis, somatic 133100
Tags
  • somatic
Amber Amber List (moderate evidence)
SH2B3
2 reviews
1 green 1 red
Other
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Erythrocytosis, somatic 133100
Tags
  • somatic
Red Red List (low evidence)
EGLN2
1 review
Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Familial erythrocytosis
Tags
Red Red List (low evidence)
EGLN3
1 review
Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • erythrocytosis
Tags
Red Red List (low evidence)
HIF1A
1 review
Unknown
Sources
  • Literature
Phenotypes
  • Familial erythrocytosis
Tags
Red Red List (low evidence)
PKLR
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Familial erythrocytosis
Tags

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