Comment on list classification: EBP will be flagged for GMS review to assess whether there is enough evidence and potential clinical value to rate as Green on this panel.
Flexion contractures may occur is a subset of patients with variants in this gene. However, as other manifestations such as skeletal malformations and skin abnormalities represent more prominent features of the disorder, it is less likely that cases would be tested under the Arthrogryposis panel. EBP is already Green on other relevant panels (Skeletal dysplasia v2.100, Palmoplantar keratodermas v1.7, etc).
Created: 4 Jun 2021, 10:06 a.m. | Last Modified: 4 Jun 2021, 10:06 a.m.
Panel Version: 3.102
Phenotypes for gene: EBP were changed from Chondrodysplasia punctata, X-linked dominant, MIM# 302960 to Chondrodysplasia punctata, X-linked dominant, OMIM:302960
Mode of inheritance for gene: EBP was changed from Other to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Tag Q2_21_expert_review tag was added to gene: EBP.
Gene: ebp has been classified as Amber List (Moderate Evidence).
gene: EBP was added gene: EBP was added to Arthrogryposis. Sources: Expert list Mode of inheritance for gene: EBP was set to Other Publications for gene: EBP were set to 21634086; 24704792 Phenotypes for gene: EBP were set to Chondrodysplasia punctata, X-linked dominant, MIM# 302960 Review for gene: EBP was set to GREEN gene: EBP was marked as current diagnostic