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DDG2P

Gene: EPB41L1

Red List (low evidence)

EPB41L1 (erythrocyte membrane protein band 4.1 like 1)
EnsemblGeneIds (GRCh38): ENSG00000088367
EnsemblGeneIds (GRCh37): ENSG00000088367
OMIM: 602879, Gene2Phenotype
EPB41L1 is in 2 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: possible. DDG2P mode of pathogenicity: all missense/in frame.
Created: 19 Nov 2018, 11:29 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • INTELLECTUAL DISABILITY
OMIM
602879
Clinvar variants
Variants in EPB41L1
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: possibl

19 Nov 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: EPB41L1 was added gene: EPB41L1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: EPB41L1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EPB41L1 were set to 21376300 Phenotypes for gene: EPB41L1 were set to INTELLECTUAL DISABILITY Mode of pathogenicity for gene: EPB41L1 was set to Other - please provide details in the comments