Clefting
Gene: EBP
EBP (emopamil binding protein (sterol isomerase))
EnsemblGeneIds (GRCh38): ENSG00000147155
EnsemblGeneIds (GRCh37): ENSG00000147155
OMIM: 300205, Gene2Phenotype
EBP is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000147155
EnsemblGeneIds (GRCh37): ENSG00000147155
OMIM: 300205, Gene2Phenotype
EBP is in 15 panels
1 review
Helen Brittain (Genomics England Curator)
Handful of reported cases. Clefting in one to date.Created: 26 May 2017, 7:40 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
MEND SYNDROME; MEND
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Phenotypes
-
- MEND SYNDROME
- MEND
- OMIM
- 300205
- Clinvar variants
- Variants in EBP
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Palmoplantar keratodermas
- Peroxisomal disorders
- Chondrodysplasia punctata
- Skeletal dysplasia
- Clefting
- Likely inborn error of metabolism
- Fetal hydrops
- Hydrocephalus
- Intellectual disability
- Arthrogryposis
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Limb disorders
- Fetal anomalies
History Filter Activity
31 May 2017, Gel status: 4
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
26 May 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)EBP was added to Cleftingpanel. Sources: Expert Review Green
26 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)EBP was created by ellenmcdonagh