Rare anaemia

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 3 panels

5 reviews

Steve Keeney (Central Manchester Foundation Trust)

Green List (high evidence)

Gene rating submitted by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group.
Created: 18 Feb 2019, 2:24 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
RBC membrane abnormality; Elliptocytosis; Spherocytosis, type 5, 612690; Hereditary spherocytosis type 5; Minkowski-Chauffard disease; Spherocytosis, Recessive; EPB42-related hereditary spherocytosis

Mandy nesbitt (Healthcare Professional)

Green List (high evidence)

Gene rating submitted by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group.
Created: 14 Feb 2019, 4:04 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
612690 Hereditary spherocytosis type 5; Minkowski-Chauffard disease; Spherocytosis, Recessive; EPB42-related hereditary spherocytosis

Frances Smith (King's College Hospital)

Green List (high evidence)

Gene rating submitted by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group.
Created: 8 Feb 2019, 3:46 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
612690 Spherocytosis, type 5

Publications

Variants in this GENE are reported as part of current diagnostic practice

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: EPB42; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: RBC membrane abnormality;Elliptocytosis;Spherocytosis, type 5, 612690;Hereditary spherocytosis type 5;Minkowski-Chauffard disease;Spherocytosis, Recessive;EPB42-related hereditary spherocytosis; PMID(s): none submitted
Created: 18 Feb 2019, 2:28 p.m.
Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: EPB42; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 612690 Hereditary spherocytosis type 5;Minkowski-Chauffard disease;Spherocytosis, Recessive;EPB42-related hereditary spherocytosis; PMID(s): none submitted
Created: 14 Feb 2019, 4:05 p.m.
Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: EPB42; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 612690 Spherocytosis, type 5; PMID(s): 1558976; 7772513; 12176912
Created: 8 Feb 2019, 3:49 p.m.
Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: EPB42; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: RBC membrane abnormality;Elliptocytosis;Spherocytosis, type 5, 612690;Hereditary spherocytosis type 5;Minkowski-Chauffard disease;Spherocytosis, Recessive;EPB42-related hereditary spherocytosis; PMID(s): 15071790;1558976;7803799;2386772;7772513
Created: 6 Feb 2019, 12:14 p.m.

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.
Created: 6 Feb 2019, 12:13 p.m.

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Spherocytosis, type 5, 612690
  • EPB42-related hereditary spherocytosis
  • 612690 Spherocytosis, type 5
  • Spherocytosis, Recessive
  • Elliptocytosis
  • Minkowski-Chauffard disease
  • RBC membrane abnormality
  • Hereditary spherocytosis type 5
  • 612690 Hereditary spherocytosis type 5
OMIM
177070
Clinvar variants
Variants in EPB42
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Feb 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes EPB42-related hereditary spherocytosis; Spherocytosis, Recessive; Elliptocytosis; Minkowski-Chauffard disease; RBC membrane abnormality; Hereditary spherocytosis type 5; Spherocytosis, type 5, 612690 for gene: EPB42

18 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to EPB42.

14 Feb 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Minkowski-Chauffard disease; Spherocytosis, Recessive; 612690 Hereditary spherocytosis type 5; EPB42-related hereditary spherocytosis for gene: EPB42

14 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to EPB42.

8 Feb 2019, Gel status: 4

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes 612690 Spherocytosis, type 5 for gene: EPB42 Publications for gene EPB42 were changed from 15071790; 7772513; 7803799; 2386772; 1558976 to 12176912; 7772513; 1558976

8 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to EPB42.

6 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to EPB42.

6 Feb 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to EPB42. Mode of inheritance for gene EPB42 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes EPB42-related hereditary spherocytosis; Spherocytosis, Recessive; Elliptocytosis; Minkowski-Chauffard disease; RBC membrane abnormality; Hereditary spherocytosis type 5; Spherocytosis, type 5, 612690 for gene: EPB42 Publications for gene EPB42 were changed from to 15071790; 7772513; 7803799; 2386772; 1558976 Rating Changed from Red List (low evidence) to Green List (high evidence)

6 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: EPB42 was added gene: EPB42 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: EPB42 was set to