Limb disordersGene: EBP
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)
Polydactyly; Chondrodysplasia punctata, X-linked dominant 302960
Eleanor Williams: Associated with MEND syndrome
Gene: ebp has been classified as Green List (High Evidence).
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)
EBP was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
EBP was created by Ellen McDonagh