Hereditary Erythrocytosis
Gene: EGLN1Comment on phenotypes: This gene is also associated with [Hemoglobin, high altitude adaptation], OMIM:609070Created: 23 Mar 2021, 10:02 a.m. | Last Modified: 23 Mar 2021, 10:02 a.m.
Panel Version: 1.23
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; 23869443Created: 26 Apr 2017, 1:32 p.m.
Gene sourced from The Genetics Home Reference.Created: 14 Mar 2017, 2:20 p.m.
Mode of inheritance
Other
Phenotypes for gene: EGLN1 were changed from Familial Erythrocytosis 609820; Polycythaemia; paraganglioma; phaeochromocytoma to Erythrocytosis, familial, 3, OMIM:609820
09/05/2017 - Panel reviews were assessed, and panel was revised according to reviews and further curation.
This gene has been classified as Green List (High Evidence).
Phenotypes for EGLN1 were set to Familial Erythrocytosis 609820 ; Polycythaemia; paraganglioma; phaeochromocytoma
Publications for EGLN1 were set to 27651169; 27774468; 23869443; 19092153; 16407130; 17579185
Publications for EGLN1 were set to 27651169; 27774468; 23869443
Mode of inheritance for EGLN1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
EGLN1 was added to Hereditary Erythrocytosispanel. Source: Illumina TruGenome Clinical Sequencing Services
EGLN1 was added to Hereditary Erythrocytosispanel. Source: Radboud University Medical Center, Nijmegen
Model of inheritance for gene EGLN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
EGLN1 was created by ellenmcdonagh
EGLN1 was added to Hereditary Erythrocytosispanel. Sources: Other