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Skeletal dysplasia

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

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

302960 listed in Chondrodysplasia punctata gp of SD - almost exclusively in females due to male lethality: XLD. Many cases reported. 300960 not listed in SD nosology paper - variable manifestations in males including short stature, scoliosis and digital abnormalities - carrier females are generally asymptomatic.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

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

Phenotypes
CDPXLD; Chondrodysplasia punctata, X-linked dominant, 302960; MEND syndrome-300960 XLR.

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: EBP; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 17 Jun 2016, 8:03 a.m.

Mode of inheritance
Other - please specify in evaluation comments

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

Variants in this GENE are reported as part of current diagnostic practice

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
  • NHS GMS
  • UKGTN
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • X-linked dominant chondrodysplasia punctata
  • CDPXLD
  • MEND syndrome
  • Chondrodysplasia punctata, X-linked dominant, 302960
  • MEND syndrome-300960 XLR.
OMIM
300205
Clinvar variants
Variants in EBP
Penetrance
Complete
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes MEND syndrome-300960 XLR.; CDPXLD; Chondrodysplasia punctata, X-linked dominant, 302960 for gene: EBP

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to EBP. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

18 May 2016, Gel status: 4

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

EBP was added to Unexplained skeletal dysplasiapanel. Source: UKGTN EBP was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen EBP was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Green Model of inheritance for gene EBP was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

EBP was added to Unexplained skeletal dysplasiapanel. Sources:

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

EBP was created by sleigh