Cytopenias and congenital anaemiasGene: EPHX1
mutations reported in only one case AND the phenotype is not relevant
Created: 9 Mar 2017, 4:31 p.m.
Hypercholanemia, familial, 607748
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
EPHX1 was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Red
EPHX1 was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen
EPHX1 was created by LouiseD