Clefting disorders
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
0 reviews
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
- None
- Panels with this gene
-
- Polydactyly
- Clefting disorders
- Chondrodysplasia Punctata
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Skeletal Dysplasia_Fetal
- Palmoplantar Keratoderma and Erythrokeratoderma
- Skeletal dysplasia
- Fetal anomalies
- Arthrogryposis
- Mendeliome
- Ichthyosis
- Callosome
- Peroxisomal Disorders
- Cerebral Palsy
History Filter Activity
16 Sep 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: EBP was added gene: EBP was added to Clefting_GEL. Sources: Expert Review Green Mode of inheritance for gene: EBP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: EBP were set to MEND SYNDROME; MEND