Chondrodysplasia Punctata
Gene: EBP

EBP (emopamil binding protein (sterol isomerase))
EnsemblGeneIds (GRCh38): ENSG00000147155
EnsemblGeneIds (GRCh37): ENSG00000147155
OMIM: 300205, Gene2Phenotype
EBP is in 15 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

XLD, multiple affected individuals reported.

MEND syndrome is an allelic, XLR disorder.
Created: 27 Mar 2021, 3:31 a.m. | Last Modified: 27 Mar 2021, 3:31 a.m.

Panel Version: 0.7

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
Chondrodysplasia punctata, X-linked dominant, MIM# 302960

Publications

Created: 27 Mar 2021, 3:31 a.m.
Last Modified: 27 Mar 2021, 3:31 a.m.
Panel version: 0.7

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
Victorian Clinical Genetics Services

Phenotypes

Chondrodysplasia punctata, X-linked dominant, MIM# 302960

OMIM

300205

Clinvar variants

Variants in EBP

Penetrance

None

Publications

Panels with this gene