Description
This is a place-holder for a new gene panel that is currently in progress. Relevant genes can be added to the panel by reviewers, or if you have a gene list please contact panelapp@genomicsengland.co.uk. 

An eligibility statement is currently in progress.

3 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

13 Entities

12 reviewed, 8 green

List Entity Reviews Mode of inheritance Details
13 Entitiess
Green Green List (high evidence)
BPGM
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Erythrocytosis due to bisphosphoglycerate mutase deficiency
Tags
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)
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
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)
EPO
1 review
1 red
Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hereditary 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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