Cytopenias and congenital anaemias
Gene: EPB41Comment on list classification: Changed status from red to green as there is enough evident to support this gene being involved in the disorder Elliptocytosis-1Created: 27 Feb 2017, 4:53 p.m.
Comment on publications: Evidence of more than three unrelated families with the disorder PMID:3755799 (1 family, many affecteds); PMID:3134067 (2 unrelated families many affecteds), PMID:1430200 (1 affected).Created: 27 Feb 2017, 4:51 p.m.
Comment on phenotypes: Elliptocytosis is a heterogeneous red blood cell (RBC) membrane disorderCreated: 27 Feb 2017, 3:10 p.m.
Comment on mode of inheritance: All HE variants, apart from HPP hereditary pyropoikilocytosis (inherited autosomal recessively) are autosomal dominant.Created: 27 Feb 2017, 3:07 p.m.
Comment on phenotypes: added phenotypes from OMIMCreated: 27 Feb 2017, 2:57 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
RBC membrane abnormality; Elliptocytosis
Variants in this GENE are reported as part of current diagnostic practice
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for EPB41 were set to 3755799;3134067;1430200
Phenotypes for EPB41 were set to RBC membrane abnormality; Elliptocytosis; Elliptocytosis-1,611804; Hereditary elliptocytosis;
Mode of inheritance for EPB41 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for EPB41 were set to RBC membrane abnormality;Elliptocytosis;Elliptocytosis-1,611804;Hereditary elliptocytosis;
EPB41 was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen,Literature
EPB41 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)
EPB41 was created by LouiseD