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  3. EBP
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Arthrogryposis

Gene: EBP

Green List (high 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)

Green List (high evidence)

XLD. Contractures are a reported feature.
Created: 11 Jul 2020, 5:31 a.m. | Last Modified: 11 Jul 2020, 5:31 a.m.
Panel Version: 0.110

Mode of inheritance
Other

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

Publications

Created: 11 Jul 2020, 5:31 a.m.
Last Modified: 11 Jul 2020, 5:31 a.m.
Panel version: 0.113

History Filter Activity

11 Jul 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: EBP were set to 21634086

11 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ebp has been classified as Green List (High Evidence).

11 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EBP were changed from to Chondrodysplasia punctata, X-linked dominant, MIM# 302960

11 Jul 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: EBP were set to

11 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: EBP was changed from Unknown to Other

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 Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EBP was set to Unknown