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  3. EPB42
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Cytopenias and congenital anaemias

Gene: EPB42

Green List (high evidence)
EPB42 (erythrocyte membrane protein band 4.2)
EnsemblGeneIds (GRCh38): ENSG00000166947
EnsemblGeneIds (GRCh37): ENSG00000166947
OMIM: 177070, Gene2Phenotype
EPB42 is in 2 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment 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 evidence
Created: 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:15071790
Created: 27 Feb 2017, 11 a.m.
Created: 27 Feb 2017, 11 a.m.

Panel version: 0.81

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

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

Created: 16 Jan 2017, 3:46 p.m.

Panel version: Imported from "Anaemias and red cell disorders" panel version 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • RBC membrane abnormality
  • Elliptocytosis
  • Spherocytosis, type 5, 612690
  • Hereditary spherocytosis type 5
  • Minkowski-Chauffard disease
  • Spherocytosis, Recessive
  • EPB42-related hereditary spherocytosis
OMIM
177070
Clinvar variants
Variants in EPB42
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 4

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.

27 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 Feb 2017, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for EPB42 were set to 15071790;1558976;7803799;2386772;7772513

27 Feb 2017, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

27 Feb 2017, Gel status: 2

Upload gene information

Louise Daugherty (Genomics England Curator)

EPB42 was added to Cytopaenias and congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services

27 Feb 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for EPB42 were set to RBC membrane abnormality; Elliptocytosis; Spherocytosis, type 5, 612690; Hereditary spherocytosis type 5; Minkowski-Chauffard disease;Spherocytosis, Recessive

27 Feb 2017, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for EPB42 were set to 15071790

27 Feb 2017, Gel status: 1

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for EPB42 was changed to BIALLELIC, autosomal or pseudoautosomal

27 Feb 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene EPB42 were set to RBC membrane abnormality; Elliptocytosis;Spherocytosis, type 5, 612690;Hereditary spherocytosis type 5;Minkowski-Chauffard disease

27 Feb 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene EPB42 were set to RBC membrane abnormality; Elliptocytosis;Spherocytosis, type 5, 612690;Hereditary spherocytosis type 5;

27 Feb 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene EPB42 were set to RBC membrane abnormality; Elliptocytosis;Spherocytosis, type 5, 612690

27 Feb 2017, Gel status: 1

Upload gene information

Louise Daugherty (Genomics England Curator)

EPB42 was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen

17 Feb 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

EPB42 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

EPB42 was created by LouiseD