Peroxisomal disorders
Gene: EBP

EBP (emopamil binding protein (sterol isomerase))
EnsemblGeneIds (GRCh38): ENSG00000147155
EnsemblGeneIds (GRCh37): ENSG00000147155
OMIM: 300205, Gene2Phenotype
EBP is in 15 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Changed from 'other' as this option will also capture biallelic variants in females.
Created: 3 Apr 2017, 3:42 p.m.

Created: 3 Apr 2017, 3:42 p.m.

Panel version: 1.4

Sarah Leigh (Genomics England Curator)

Associated with phenotypes in OMIM and G2P. Numerous variants reported in Chondrodysplasia punctata, X-linked dominant 302960 and four in MEND syndrome 300960
Created: 23 Aug 2016, 11:18 a.m.

Comment on mode of inheritance: X-linked recessive and dominant
Created: 23 Aug 2016, 11:15 a.m.

Created: 23 Aug 2016, 11:18 a.m.

Panel version: 0.83

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sources

Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen
UKGTN

Phenotypes

Chondrodysplasia punctata, X-linked dominant 302960 XLD
MEND syndrome 300960 XLR

OMIM

300205

Clinvar variants

Variants in EBP

Penetrance

Complete

Panels with this gene

History Filter Activity

3 Apr 2017, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for EBP was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

3 Oct 2016, Gel status: 3