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  3. EPB41
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Red cell disorders

Gene: EPB41

Green List (high evidence)
EPB41 (erythrocyte membrane protein band 4.1)
EnsemblGeneIds (GRCh38): ENSG00000159023
EnsemblGeneIds (GRCh37): ENSG00000159023
OMIM: 130500, Gene2Phenotype
EPB41 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 6 Sep 2021, 4:31 a.m. | Last Modified: 6 Sep 2021, 4:31 a.m.
Panel Version: 0.46

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Elliptocytosis-1, MIM# 611804

Publications

Created: 6 Sep 2021, 4:31 a.m.
Last Modified: 6 Sep 2021, 4:31 a.m.
Panel version: 0.46

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • North West GLH
  • London South GLH
Phenotypes
  • Elliptocytosis-1, MIM# 611804
OMIM
130500
Clinvar variants
Variants in EPB41
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: epb41 has been classified as Green List (High Evidence).

6 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EPB41 were changed from Elliptocytosis-1,611804; RBC membrane abnormality; 611804 Hereditary elliptocytosis; 611804 Elliptocytosis-1; Elliptocytosis; Hereditary elliptocytosis to Elliptocytosis-1, MIM# 611804

6 Sep 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: EPB41 were set to 8423235; 1430200; 3134067

6 Sep 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: EPB41 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

15 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Elliptocytosis-1,611804; RBC membrane abnormality; 611804 Hereditary elliptocytosis; 611804 Elliptocytosis-1; Elliptocytosis; Hereditary elliptocytosis for gene: EPB41

15 Sep 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EPB41 was added gene: EPB41 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH Mode of inheritance for gene: EPB41 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EPB41 were set to 8423235; 1430200; 3134067 Phenotypes for gene: EPB41 were set to Elliptocytosis; 611804 Elliptocytosis-1; Elliptocytosis-1,611804; Hereditary elliptocytosis; 611804 Hereditary elliptocytosis; RBC membrane abnormality