Cytopenias and congenital anaemias
Gene: EPB41EnsemblGeneIds (GRCh38): ENSG00000159023
EnsemblGeneIds (GRCh37): ENSG00000159023
OMIM: 130500, Gene2Phenotype
EPB41 is in 2 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Comment 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.
BRIDGE consortium (NIHRBR-RD)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Literature
- BRIDGE consortium (NIHRBR-RD)
- Phenotypes
-
- RBC membrane abnormality
- Elliptocytosis
- Elliptocytosis-1,611804
- Hereditary elliptocytosis
- OMIM
- 130500
- Clinvar variants
- Variants in EPB41
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Louise Daugherty (Genomics England Curator)Publications for EPB41 were set to 3755799;3134067;1430200
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for EPB41 were set to RBC membrane abnormality; Elliptocytosis; Elliptocytosis-1,611804; Hereditary elliptocytosis;
Set Mode of Inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for EPB41 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for EPB41 were set to RBC membrane abnormality;Elliptocytosis;Elliptocytosis-1,611804;Hereditary elliptocytosis;
Upload gene information
Louise Daugherty (Genomics England Curator)EPB41 was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen,Literature
Added New Source
Louise Daugherty (Genomics England Curator)EPB41 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)
Created
Louise Daugherty (Genomics England Curator)EPB41 was created by LouiseD