Fetal hydrops
Gene: EBPEnsemblGeneIds (GRCh38): ENSG00000147155
EnsemblGeneIds (GRCh37): ENSG00000147155
OMIM: 300205, Gene2Phenotype
EBP is in 15 panels
1 review
Rebecca Foulger (Genomics England curator)
PMID:23137060 list Chondrodysplasia punctata (Conradi Huenermann disorder) as a non-lysosomal inborn error of metabolism associated with non-immune hydrops fetalis (NIHF) (Table 3).Created: 21 Dec 2016, 11:51 a.m.
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
-
- Literature
- Phenotypes
-
- Chondrodysplasia punctata, X-linked dominant, 302960
- Conradi Huenermann: Chondrodysplasia punctata
- OMIM
- 300205
- Clinvar variants
- Variants in EBP
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Palmoplantar keratodermas
- Peroxisomal disorders
- Limb disorders
- DDG2P
- Chondrodysplasia punctata
- Intellectual disability
- Fetal hydrops
- Clefting
- Likely inborn error of metabolism
- Hydrocephalus
- Arthrogryposis
- Fetal anomalies
- Undiagnosed metabolic disorders
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
panel promoted to version 1
Rebecca Foulger (Genomics England curator)21 December 2016. External reviews were assessed, and panel was revised according to expert review, internal discussion and additional curation. Following internal discussion, all genes from the V1.14 'RASopathies' panel were added as green EXCLUDING NF1 and SPRED1- a cautious approach was taken because Fetal hydrops is a fetal panel. All relevant genes from the 'Mucopolysaccharideosis, Gaucher, Fabry' V1.0 panel (lysosomal storage disorders) were also added to the Fetal hydrops panel as green together with genes from the literature where there is a reasonable link between the corresponding lysosomal storage disorder (LSD) and Fetal hydrops. All PEX genes from the V1.2 'Peroxisomal disorders' panel were added as green based on a link between peroxisomal biogenesis disorders and Fetal hydrops.
Created
Rebecca Foulger (Genomics England curator)EBP was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)EBP was added to Fetal hydropspanel. Sources: Literature