Skeletal dysplasia
Gene: EBPEnsemblGeneIds (GRCh38): ENSG00000147155
EnsemblGeneIds (GRCh37): ENSG00000147155
OMIM: 300205, Gene2Phenotype
EBP is in 15 panels
3 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
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 LesterCreated: 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)
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: greenCreated: 6 Mar 2019, 11:36 a.m.
Ana Beleza (Bristol Regional Genetics Service)
Tier 1Created: 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
-
- Palmoplantar keratodermas
- Limb disorders
- Peroxisomal disorders
- DDG2P
- Chondrodysplasia punctata
- Clefting
- Fetal hydrops
- Likely inborn error of metabolism
- Hydrocephalus
- Arthrogryposis
- Skeletal dysplasia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes MEND syndrome-300960 XLR.; CDPXLD; Chondrodysplasia punctata, X-linked dominant, 302960 for gene: EBP
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)
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 9th August 2016
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)
Added New Source
Sarah Leigh (Genomics England Curator)EBP was added to Unexplained skeletal dysplasiapanel. Sources:
Created
Sarah Leigh (Genomics England Curator)EBP was created by sleigh