GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: EBPEnsemblGeneIds (GRCh38): ENSG00000147155
EnsemblGeneIds (GRCh37): ENSG00000147155
OMIM: 300205, Gene2Phenotype
EBP is in 15 panels
1 review
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, 11:52 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.
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
- NHS GMS
- Phenotypes
-
- MEND syndrome-300960 XLR.
- CDPXLD
- Chondrodysplasia punctata, X-linked dominant, 302960
- OMIM
- 300205
- Clinvar variants
- Variants in EBP
- Penetrance
- None
- Panels with this gene
-
- Palmoplantar keratodermas
- Likely inborn error of metabolism
- Peroxisomal disorders
- Chondrodysplasia punctata
- Clefting
- Undiagnosed metabolic disorders
- Limb disorders
- Skeletal dysplasia
- Fetal hydrops
- Arthrogryposis
- Childhood onset dystonia, chorea or related movement disorder
- Hydrocephalus
- Intellectual disability
- Fetal anomalies
- DDG2P
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: EBP was added gene: EBP was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode 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) Phenotypes for gene: EBP were set to MEND syndrome-300960 XLR.; CDPXLD; Chondrodysplasia punctata, X-linked dominant, 302960