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Limb 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 13 panels

1 review

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

Associated with MEND syndrome and Chondrodysplasia punctata, X-linked dominant in OMIM, and CHONDRODYSPLASIA PUNCTATA 2, X-LINKED in Gene2Phenotype. Both disorders have limb phenotypes. Numerous reports of association of EBP variants in patients with X-linked dominant chondrodysplasia punctata-2 (PMID: 10391218;10391219;10942423;12509714). In PMID 10942423 they give details of phenotypes and in 6 of the 7 familes shortening of the limbs (asymmetric or unilateral) or short stature was observed.
Created: 7 Nov 2018, 1:26 p.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
Polydactyly; Chondrodysplasia punctata, X-linked dominant 302960

Publications

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
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • Chondrodysplasia punctata, X-linked dominant 302960
OMIM
300205
Clinvar variants
Variants in EBP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Eleanor Williams: Associated with MEND syndrome

7 Nov 2018, Gel status: 4

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: ebp has been classified as Green List (High Evidence).

7 Nov 2018, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to EBP. Mode of inheritance for gene EBP was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes Polydactyly; Chondrodysplasia punctata, X-linked dominant 302960 for gene: EBP Publications for gene EBP were changed from to 10942423; 10391218; 10391219; 12509714 Rating Changed from Red List (low evidence) to Green List (high evidence)

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

EBP was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

EBP was created by Ellen McDonagh