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  3. EGLN3
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Hereditary Erythrocytosis

Gene: EGLN3

Red List (low evidence)
EGLN3 (egl-9 family hypoxia inducible factor 3)
EnsemblGeneIds (GRCh38): ENSG00000129521
EnsemblGeneIds (GRCh37): ENSG00000129521
OMIM: 606426, Gene2Phenotype
EGLN3 is in 1 panel

1 review

Olivia Niblock (Genomics England Curator)

Comment on list classification: Expert reviewer has suggested that gene has not been robustly linked with this disease, despite being a good biological candidate. Should be red
Created: 3 May 2017, 9:51 a.m.

Mode of inheritance
Unknown

Phenotypes
erythrocytosis

Publications

Created: 28 Apr 2017, 11:48 a.m.

Panel version: 0.35

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Familial erythrocytosis
OMIM
606426
Clinvar variants
Variants in EGLN3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

23 Mar 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: EGLN3 were changed from erythrocytosis to Familial erythrocytosis

9 May 2017, Gel status: 1

panel promoted to version 1

Olivia Niblock (Genomics England Curator)

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

3 May 2017, Gel status: 1

Gene classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Apr 2017, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

EGLN3 was created by oniblock

28 Apr 2017, Gel status: 0

Added New Source

Olivia Niblock (Genomics England Curator)

EGLN3 was added to Hereditary Erythrocytosispanel. Sources: Literature