Arthrogryposis
Gene: EBPEnsemblGeneIds (GRCh38): ENSG00000147155
EnsemblGeneIds (GRCh37): ENSG00000147155
OMIM: 300205, Gene2Phenotype
EBP is in 15 panels
3 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.Created: 11 Mar 2022, 1:41 p.m. | Last Modified: 11 Mar 2022, 1:41 p.m.
Panel Version: 3.154
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)
XLD. Contractures are a reported feature.
Sources: Expert listCreated: 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 Green
- Phenotypes
-
- Chondrodysplasia punctata, X-linked dominant, OMIM:302960
- OMIM
- 300205
- Clinvar variants
- Variants in EBP
- Penetrance
- None
- Publications
- Panels with this gene
-
- Palmoplantar keratodermas
- Limb disorders
- Peroxisomal disorders
- DDG2P
- Chondrodysplasia punctata
- Clefting
- Fetal hydrops
- Likely inborn error of metabolism
- Hydrocephalus
- Arthrogryposis
- Skeletal dysplasia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Removed Tag
Ivone Leong (Genomics England Curator)Tag Q2_21_expert_review was removed from gene: EBP.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to EBP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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
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)
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q2_21_expert_review tag was added to gene: EBP.
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: ebp has been classified as Amber List (Moderate Evidence).
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