Hereditary Erythrocytosis

Gene: EGLN1

Green List (high evidence)

EGLN1 (egl-9 family hypoxia inducible factor 1)
EnsemblGeneIds (GRCh38): ENSG00000135766
EnsemblGeneIds (GRCh37): ENSG00000135766
OMIM: 606425, Gene2Phenotype
EGLN1 is in 1 panel

4 reviews

Arina Puzriakova (Genomics England Curator)

Comment on phenotypes: This gene is also associated with [Hemoglobin, high altitude adaptation], OMIM:609070
Created: 23 Mar 2021, 10:02 a.m. | Last Modified: 23 Mar 2021, 10:02 a.m.
Panel Version: 1.23

Olivia Niblock (Genomics England Curator)

Comment on list classification: Expert review from Daniel Gale and literature review of the gene with at least 3 unrelated cases reported - PMID: 27651169; 27774468; 23869443
Created: 26 Apr 2017, 1:32 p.m.

Daniel Gale (UCL)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Erythrocytosis; Polycythaemia; paraganglioma; phaeochromocytoma

Publications

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Gene sourced from The Genetics Home Reference.
Created: 14 Mar 2017, 2:20 p.m.

Mode of inheritance
Other

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Erythrocytosis, familial, 3, OMIM:609820
OMIM
606425
Clinvar variants
Variants in EGLN1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

23 Mar 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: EGLN1 were changed from Familial Erythrocytosis 609820; Polycythaemia; paraganglioma; phaeochromocytoma to Erythrocytosis, familial, 3, OMIM:609820

9 May 2017, Gel status: 4

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.

26 Apr 2017, Gel status: 4

Gene classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

26 Apr 2017, Gel status: 4

Set Phenotypes

Olivia Niblock (Genomics England Curator)

Phenotypes for EGLN1 were set to Familial Erythrocytosis 609820 ; Polycythaemia; paraganglioma; phaeochromocytoma

26 Apr 2017, Gel status: 4

Set publications

Olivia Niblock (Genomics England Curator)

Publications for EGLN1 were set to 27651169; 27774468; 23869443; 19092153; 16407130; 17579185

26 Apr 2017, Gel status: 4

Set publications

Olivia Niblock (Genomics England Curator)

Publications for EGLN1 were set to 27651169; 27774468; 23869443

26 Apr 2017, Gel status: 4

Set Mode of Inheritance

Olivia Niblock (Genomics England Curator)

Mode of inheritance for EGLN1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

26 Apr 2017, Gel status: 4

Gene classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Apr 2017, Gel status: 2

Added New Source

Olivia Niblock (Genomics England Curator)

EGLN1 was added to Hereditary Erythrocytosispanel. Source: Illumina TruGenome Clinical Sequencing Services

7 Apr 2017, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

EGLN1 was added to Hereditary Erythrocytosispanel. Source: Radboud University Medical Center, Nijmegen

14 Mar 2017, Gel status: 0

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene EGLN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

14 Mar 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

EGLN1 was created by ellenmcdonagh

14 Mar 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

EGLN1 was added to Hereditary Erythrocytosispanel. Sources: Other