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Mendeliome

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, 4:34 a.m. | Last Modified: 6 Sep 2021, 4:34 a.m.
Panel Version: 0.9054

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Elliptocytosis-1, MIM# 611804

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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 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

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 Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EPB41 was added gene: EPB41 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EPB41 was set to Unknown