Skeletal dysplasia
Gene: EBP
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.
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.
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
Added phenotypes MEND syndrome-300960 XLR.; CDPXLD; Chondrodysplasia punctata, X-linked dominant, 302960 for gene: EBP
Source NHS GMS was added to EBP. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
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)
EBP was added to Unexplained skeletal dysplasiapanel. Sources:
EBP was created by sleigh