Peroxisomal disorders

Gene: EBP

Green List (high evidence)

EBP (emopamil binding protein (sterol isomerase))
EnsemblGeneIds (GRCh38): ENSG00000147155
EnsemblGeneIds (GRCh37): ENSG00000147155
OMIM: 300205, Gene2Phenotype
EBP is in 14 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.

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.

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
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • 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

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 3rd October 2016

23 Aug 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

EBP was added to Peroxisomal disorderspanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

23 Aug 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for EBP was changed to Other - please specifiy in evaluation comments

23 Aug 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for EBP were set to Chondrodysplasia punctata, X-linked dominant 302960 XLD; MEND syndrome 300960 XLR

19 Aug 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

EBP was created by sleigh

19 Aug 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

EBP was added to Peroxisomal disorderspanel. Sources: UKGTN