Cerebral Palsy
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
Clare van Eyk (University of Adelaide)
1 individual reported with hemizygous likely pathogenic missense variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. MEND syndrome is associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia).
Sources: LiteratureCreated: 25 Jun 2024, 6:53 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
MEND syndrome, MIM#300960
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Red
- Phenotypes
-
- MEND syndrome, MIM#300960
- OMIM
- 300205
- Clinvar variants
- Variants in EBP
- Penetrance
- None
- Publications
-
- PMID: 38693247
- Panels with this gene
-
- Polydactyly
- Clefting disorders
- Chondrodysplasia Punctata
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Palmoplantar Keratoderma and Erythrokeratoderma
- Skeletal dysplasia
- Fetal anomalies
- Skeletal Dysplasia_Fetal
- Arthrogryposis
- Mendeliome
- Ichthyosis
- Callosome
- Peroxisomal Disorders
- Cerebral Palsy
History Filter Activity
26 Jun 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ebp has been classified as Red List (Low Evidence).
26 Jun 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ebp has been classified as Red List (Low Evidence).
25 Jun 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: EBP was added gene: EBP was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: EBP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: EBP were set to PMID: 38693247 Phenotypes for gene: EBP were set to MEND syndrome, MIM#300960 Review for gene: EBP was set to RED