Cytopenias and congenital anaemias
Gene: EPB42Comment on list classification: Changed status to Green from Red due to evidence in the literature.Created: 27 Feb 2017, 11:35 a.m.
Comment on publications: Evidence for more than three cases where variants caused Hereditary spherocytosis : PMID:1558976 (4 unrelated affected), 7803799 (1 affected), 2386772 and 7772513 (2 related affected);Created: 27 Feb 2017, 11:34 a.m.
Comment on publications: added MOI evidenceCreated: 27 Feb 2017, 11 a.m.
Comment on mode of inheritance: Hereditary spherocytosis is caused by EPB42 variants that are inherited in an autosomal recessive manner PMID:15071790Created: 27 Feb 2017, 11 a.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).
This gene has been classified as Green List (High Evidence).
Publications for EPB42 were set to 15071790;1558976;7803799;2386772;7772513
Phenotypes for EPB42 were set to RBC membrane abnormality; Elliptocytosis; Spherocytosis, type 5, 612690; Hereditary spherocytosis type 5; Minkowski-Chauffard disease; Spherocytosis, Recessive;EPB42-related hereditary spherocytosis
EPB42 was added to Cytopaenias and congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services
Phenotypes for EPB42 were set to RBC membrane abnormality; Elliptocytosis; Spherocytosis, type 5, 612690; Hereditary spherocytosis type 5; Minkowski-Chauffard disease;Spherocytosis, Recessive
Publications for EPB42 were set to 15071790
Mode of inheritance for EPB42 was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene EPB42 were set to RBC membrane abnormality; Elliptocytosis;Spherocytosis, type 5, 612690;Hereditary spherocytosis type 5;Minkowski-Chauffard disease
Phenotypes for gene EPB42 were set to RBC membrane abnormality; Elliptocytosis;Spherocytosis, type 5, 612690;Hereditary spherocytosis type 5;
Phenotypes for gene EPB42 were set to RBC membrane abnormality; Elliptocytosis;Spherocytosis, type 5, 612690
EPB42 was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen
EPB42 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)
EPB42 was created by LouiseD