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  3. EBP
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Hydrops fetalis

Gene: EBP

Red List (low evidence)
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)

Red List (low evidence)

XLD. Listed as a cause of hydrops in a review, but can only find a single reported case.
Sources: Expert list
Created: 13 Aug 2020, 6:21 a.m. | Last Modified: 20 Aug 2020, 6:36 a.m.
Panel Version: 0.165

Mode of inheritance
Other

Phenotypes
Chondrodysplasia punctata, X-linked dominant, MIM# 302960

Publications

Created: 13 Aug 2020, 6:21 a.m.
Last Modified: 20 Aug 2020, 6:36 a.m.
Panel version: 0.165

History Filter Activity

13 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ebp has been classified as Red List (Low Evidence).

13 Aug 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EBP was added gene: EBP was added to Hydrops fetalis. Sources: Expert list Mode of inheritance for gene: EBP was set to Other Publications for gene: EBP were set to 23137060 Phenotypes for gene: EBP were set to Chondrodysplasia punctata, X-linked dominant, MIM# 302960 Review for gene: EBP was set to RED