Hydrocephalus
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
2 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene AmberCreated: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Helen Brittain (Genomics England Curator)
Rare phenotype. One case reported with hydrocephalus to date therefore watchlist re phenotype at presentCreated: 9 May 2017, 1:22 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
MEND syndrome
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- NHS GMS
- Expert Review Amber
- Literature
- Phenotypes
-
- MEND syndrome, OMIM:300960
- Tags
- OMIM
- 300205
- Clinvar variants
- Variants in EBP
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Palmoplantar keratodermas
- Limb disorders
- Peroxisomal disorders
- DDG2P
- Chondrodysplasia punctata
- Clefting
- Fetal hydrops
- Likely inborn error of metabolism
- Hydrocephalus
- Arthrogryposis
- Skeletal dysplasia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
29 Mar 2021, Gel status: 2
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: EBP were changed from MEND syndrome to MEND syndrome, OMIM:300960
29 Jul 2019, Gel status: 2
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to EBP.
31 May 2017, Gel status: 2
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31.05.2017 - panel revised after internal curation and clinical review.
9 May 2017, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)EBP was added to Hydrocephaluspanel. Source: Expert Review Amber
9 May 2017, Gel status: 0
Added New Source
Helen Brittain (Genomics England Curator)EBP was added to Hydrocephaluspanel. Sources: Literature
9 May 2017, Gel status: 0
Created
Helen Brittain (Genomics England Curator)EBP was created by helen.brittain