Cytopenias and congenital anaemias
Gene: EPOComment on list classification: New gene added by external reviewer. Gene rated as red as there is currently not enough evidence in the literature to support green ratingCreated: 7 Aug 2018, 10:35 a.m.
Comment on list classification: New gene added by external reviewer. Gene rated as red as there is currently not enough evidence in the literature to support gene-disease association.Created: 7 Aug 2018, 10:35 a.m.
Comment on mode of inheritance: MOI is set to both as Diamond-Blackfan anemia-like (AR), Erythrocytosis, familial 5 (AD)Created: 7 Aug 2018, 10:32 a.m.
Comment on publications: Diamond-Blackfan anemia-like (AR), 617911. Two sibs, born of consanguineous parents, with Diamond-Blackfan anemia-like, Kim et al. (2017) PMID:28283061 identified a homozygous missense mutation in the EPO gene. Erythrocytosis, familial 5 (AD), 617907. In 10 affected members of a 4-generation Norwegian family with ECYT5, Zmajkovic et al. (2018) PMID: 29514032 identified a heterozygous 1-bp deletion in EPO.Created: 7 Aug 2018, 10:31 a.m.
Comment on phenotypes: added phenotypes from OMIMCreated: 7 Aug 2018, 10:24 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
DBA
Publications
Gene: epo has been classified as Red List (Low Evidence).
Gene: epo has been classified as Red List (Low Evidence).
Mode of inheritance for gene: EPO was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: EPO were set to 20655265; 29514032; 28283061
Phenotypes for gene: EPO were set to DBA; Diamond-Blackfan anemia-like (AR), 617911; Erythrocytosis, familial 5 (AD), 617907
EPO was added to Cytopaenias and congenital anaemias panel. Sources: Literature
EPO was created by Mary Alikian