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Arthrogryposis

Gene: EBP

Amber List (moderate evidence)

EBP (emopamil binding protein (sterol isomerase))
EnsemblGeneIds (GRCh38): ENSG00000147155
EnsemblGeneIds (GRCh37): ENSG00000147155
OMIM: 300205, Gene2Phenotype
EBP is in 16 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: EBP will be flagged for GMS review to assess whether there is enough evidence and potential clinical value to rate as Green on this panel.

Flexion contractures may occur is a subset of patients with variants in this gene. However, as other manifestations such as skeletal malformations and skin abnormalities represent more prominent features of the disorder, it is less likely that cases would be tested under the Arthrogryposis panel. EBP is already Green on other relevant panels (Skeletal dysplasia v2.100, Palmoplantar keratodermas v1.7, etc).
Created: 4 Jun 2021, 10:06 a.m. | Last Modified: 4 Jun 2021, 10:06 a.m.
Panel Version: 3.102

Zornitza Stark (Australian Genomics)

Green List (high evidence)

XLD. Contractures are a reported feature.
Sources: Expert list
Created: 11 Jul 2020, 5:36 a.m.

Mode of inheritance
Other

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

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 Amber
Phenotypes
  • Chondrodysplasia punctata, X-linked dominant, OMIM:302960
Tags
Q2_21_expert_review
OMIM
300205
Clinvar variants
Variants in EBP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Jun 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

4 Jun 2021, Gel status: 2

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: EBP was changed from Other to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

4 Jun 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_expert_review tag was added to gene: EBP.

4 Jun 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ebp has been classified as Amber List (Moderate Evidence).

11 Jul 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: EBP was added gene: EBP was added to Arthrogryposis. Sources: Expert list Mode of inheritance for gene: EBP was set to Other Publications for gene: EBP were set to 21634086; 24704792 Phenotypes for gene: EBP were set to Chondrodysplasia punctata, X-linked dominant, MIM# 302960 Review for gene: EBP was set to GREEN gene: EBP was marked as current diagnostic