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  3. EGLN1
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Red cell disorders

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 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 3 unrelated families reported.
Sources: Expert list
Created: 15 Sep 2021, 4:45 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Erythrocytosis, familial, 3, MIM# 609820

Publications

Created: 15 Sep 2021, 4:45 a.m.

Panel version: 0.146

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Erythrocytosis, familial, 3, MIM# 609820
OMIM
606425
Clinvar variants
Variants in EGLN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: egln1 has been classified as Green List (High Evidence).

15 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: egln1 has been classified as Green List (High Evidence).

15 Sep 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EGLN1 was added gene: EGLN1 was added to Red cell disorders. Sources: Expert list Mode of inheritance for gene: EGLN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EGLN1 were set to 19092153; 16407130; 17579185 Phenotypes for gene: EGLN1 were set to Erythrocytosis, familial, 3, MIM# 609820 Review for gene: EGLN1 was set to GREEN