Skeletal Dysplasia_Fetal
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)

Comment when marking as ready: CDP lethal in males (unless mosaic) and females generally have normal intellectual development. Hypomorphic variants in males result in MEND, which has ID as a feature (carrier females for these variants generally asymptomatic).
Created: 31 Jan 2020, 10:03 a.m. | Last Modified: 31 Jan 2020, 10:03 a.m.

Panel Version: 0.1823

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; Conradi-Hunermann syndrome; MEND syndrome, MIM#300960

Created: 31 Jan 2020, 9:55 a.m.
Last Modified: 31 Jan 2020, 9:55 a.m.
Panel version: Imported from Fetal anomalies panel version Imported from Intellectual disability syndromic and non-syndromic panel version 0.1821

Details

Mode of Inheritance

Unknown

Sources

Expert Review Green
Genomics England PanelApp
Genetic Health Queensland
Victorian Clinical Genetics Services
Expert Review Green
Melbourne Genomics Health Alliance Perinatal Autopsy Flagship

OMIM

300205

Clinvar variants

Variants in EBP

Penetrance

None

Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EBP was added gene: EBP was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EBP was set to Unknown

Skeletal Dysplasia_Fetal Gene: EBP