Peroxisomal Disorders
Gene: EBPEnsemblGeneIds (GRCh38): ENSG00000147155
EnsemblGeneIds (GRCh37): ENSG00000147155
OMIM: 300205, Gene2Phenotype
EBP is in 15 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Comment when marking as ready: Enzyme is located primarily in ER, phenotypic overlap with peroxisomal disorders.Created: 20 Jul 2020, 10:08 a.m. | Last Modified: 20 Jul 2020, 10:08 a.m.
Panel Version: 0.15
Crystle Lee (Victorian Clinical Genetics Services)
Well reported in females with the associated condition.
Sources: Expert ReviewCreated: 20 Jul 2020, 4:49 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Chondrodysplasia punctata, X-linked dominant (MIM#302960)
Publications
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 (MIM#302960)
- OMIM
- 300205
- Clinvar variants
- Variants in EBP
- Penetrance
- None
- Publications
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ebp has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ebp has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Crystle Lee (Victorian Clinical Genetics Services)gene: EBP was added gene: EBP was added to Peroxisomal Disorders. Sources: Expert Review Mode of inheritance for gene: EBP was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: EBP were set to 12509714 Phenotypes for gene: EBP were set to Chondrodysplasia punctata, X-linked dominant (MIM#302960) Review for gene: EBP was set to AMBER