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  3. EGLN1
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Paraganglioma_phaeochromocytoma

Gene: EGLN1

Red List (low 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

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

PMID: 19092153
1 patient with erythrocytosis and recurrent paraganglioma with a novel de novo germline EGLN1 gene (PHD2) variant (H374R). There was loss of heterozygosity of PHD2 in the tumour. Wild-type PHD2 caused the dose-related suppression of HIF-α–mediated induction of the reporter gene, whereas the response to the H374R PHD2 mutant was impaired.

PMID: 36013579
1 patient with metastatic pheochromocytoma and chronic myeloid leukaemia (CML) without polycythaemia, and a novel germline EGLN1 gene variant (c.153G>A, p.W51*) inherited from unaffected father. The patient had lower expression of PHD2 and higher levels of HIF2α compared to the healthy adrenal tissues, confirming that PHD2 down-regulation results in HIF2α stabilization.
Sources: Expert list, Literature, Expert Review
Created: 18 Sep 2024, 10:20 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Paraganglioma, MONDO:0000448; Pheochromocytoma, MONDO:0008233; Pheochromocytoma/paraganglioma, susceptibility to, no MIM#; Erythrocytosis, familial, 3, MIM#609820

Publications

Created: 18 Sep 2024, 10:20 p.m.

Panel version: 0.30

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review
  • Literature
  • Expert list
Phenotypes
  • Paraganglioma, MONDO:0000448
  • Pheochromocytoma, MONDO:0008233
  • Pheochromocytoma/paraganglioma, susceptibility to, no MIM#
  • Erythrocytosis, familial, 3, MIM#609820
OMIM
606425
Clinvar variants
Variants in EGLN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Oct 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: egln1 has been classified as Red List (Low Evidence).

18 Sep 2024, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: EGLN1 was added gene: EGLN1 was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Literature,Expert Review Mode of inheritance for gene: EGLN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EGLN1 were set to PMID: 19092153, 36013579 Phenotypes for gene: EGLN1 were set to Paraganglioma, MONDO:0000448; Pheochromocytoma, MONDO:0008233; Pheochromocytoma/paraganglioma, susceptibility to, no MIM#; Erythrocytosis, familial, 3, MIM#609820 Review for gene: EGLN1 was set to RED