Limb disorders
Gene: EBPEnsemblGeneIds (GRCh38): ENSG00000147155
EnsemblGeneIds (GRCh37): ENSG00000147155
OMIM: 300205, Gene2Phenotype
EBP is in 15 panels
1 review
Eleanor Williams (Genomics England Curator)
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
-
- Palmoplantar keratodermas
- Peroxisomal disorders
- Limb disorders
- DDG2P
- Chondrodysplasia punctata
- Intellectual disability
- Fetal hydrops
- Clefting
- Likely inborn error of metabolism
- Hydrocephalus
- Arthrogryposis
- Fetal anomalies
- Undiagnosed metabolic disorders
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Eleanor Williams: Associated with MEND syndrome
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: ebp has been classified as Green List (High Evidence).
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)
Added New Source
Ellen McDonagh (Genomics England Curator)EBP was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
Created
Ellen McDonagh (Genomics England Curator)EBP was created by Ellen McDonagh