1. Panels
  2. Hereditary Erythrocytosis
The latest signed off version for the GMS is v2.0. The current version, shown here, may differ from the signed-off version.

Hereditary Erythrocytosis (Version 2.17)

Level 2: Haematology

Relevant disorders: R405
Panel types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Latest signed off version: v2.0 (22 Mar 2023)
Previously signed off versions: v1.19
Previous code: 58c7fba38f6203345887d4f5
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'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

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 signed off 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
Panel Activity

10 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

  • Terri McVeigh (Royal Marsden NHS Foundation Trust)

    Group: Other NHS organisation
    Workplace: NHS clinical service

  • Dmitrijs Rots (Children's Clinical University Hospital)

    Group: Other
    Workplace: Research lab

  • Catherine Snow (Genomics England)

    Group: Other
    Workplace: Other

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Achchuthan Shanmugasundram (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Anna Godfrey (Cambridge University Hospitals NHS Foundation Trust)

    Group: Other NHS organisation
    Workplace: NHS diagnostic lab

17 Entities

17 reviewed, 11 green

List Entity Reviews Mode of inheritance Details
17 Entitiess
Green List (high evidence)
BPGM
4 reviews
2 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Erythrocytosis, familial, 8, OMIM:222800
Tags
Green List (high evidence)
EGLN1
4 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
  • Erythrocytosis, familial, 3, OMIM:609820
Tags
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
  • Erythrocytosis, familial, 4, OMIM:611783
Tags
Green List (high evidence)
EPO
3 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Erythrocytosis, familial, 5, OMIM:617907
Tags
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
  • [Erythrocytosis, familial, 1], OMIM:133100
Tags
Green List (high evidence)
HBA1
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Erythrocytosis 7, OMIM:617981
Tags
Green List (high evidence)
HBA2
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Erythrocytosis 7, OMIM:617981
Tags
Green List (high evidence)
HBB
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Erythrocytosis 6, OMIM:617980
Tags
  • gene-therapy-trial
Green List (high evidence)
JAK2
3 reviews
3 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hereditary erythrocytosis
  • Erythrocytosis, somatic, OMIM:133100
Tags
  • somatic
Green List (high evidence)
SLC30A10
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Hypermanganesemia with dystonia 1, OMIM:613280
  • Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease
Tags
  • treatable
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
  • Erythrocytosis, familial, 2, OMIM:263400
Tags
Amber List (moderate evidence)
PIEZO1
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, OMIM:194380
  • Erythrocytosis
Tags
Amber List (moderate evidence)
SH2B3
5 reviews
2 green 1 red 		Other
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Erythrocytosis, somatic, OMIM:133100
  • Myelofibrosis, somatic, OMIM:254450
  • Thrombocythemia, somatic, OMIM:187950
Tags
  • somatic
Red List (low evidence)
EGLN2
1 review
 Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Familial erythrocytosis
Tags
Red List (low evidence)
EGLN3
1 review
 Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Familial erythrocytosis
Tags
Red List (low evidence)
HIF1A
1 review
 Unknown
Sources
  • Literature
Phenotypes
  • Familial erythrocytosis
Tags
Red List (low evidence)
PKLR
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Adenosine triphosphate, elevated, of erythrocytes, OMIM:102900
Tags

Major version comments

  • 2023-03-22 16:41 Catherine Snow (Genomics England) promoted panel to 2.0
    The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (2.0) following this.

    09/05/2017 - Panel reviews were assessed, and panel was revised according to reviews and further curation.

Downloads

Download lists

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

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