1. Panels
  2. Skeletal dysplasia
  3. EBP
Genes in panel
Prev Next
STRs in panel
Prev Next

Skeletal dysplasia

Gene: EBP

Green List (high evidence)
EBP (emopamil binding protein (sterol isomerase))
EnsemblGeneIds (GRCh38): ENSG00000147155
EnsemblGeneIds (GRCh37): ENSG00000147155
OMIM: 300205, Gene2Phenotype
EBP is in 15 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

CDP lethal in males (unless mosaic) and females generally have normal intellectual development. Hypomorphic variants in males result in MEND, which has ID as a feature (carrier females for these variants generally asymptomatic).
Created: 6 Dec 2021, 10:19 a.m. | Last Modified: 6 Dec 2021, 10:19 a.m.
Panel Version: 0.10159

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; Conradi-Hunermann syndrome; MEND syndrome, MIM#300960

Publications

Created: 6 Dec 2021, 10:19 a.m.
Last Modified: 6 Dec 2021, 10:19 a.m.
Panel version: Imported from Mendeliome panel version 0.10159

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Skeletal dysplasia is a feature of this condition.
Created: 20 Jul 2020, 4:49 a.m. | Last Modified: 20 Jul 2020, 4:49 a.m.
Panel Version: 0.35

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Chondrodysplasia punctata, X-linked dominant (MIM#302960)

Publications

Created: 20 Jul 2020, 4:49 a.m.
Last Modified: 20 Jul 2020, 4:49 a.m.
Panel version: 0.35

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 Green
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • MEND syndrome
  • CDPXLD
  • MEND syndrome-300960 XLR.
  • X-linked dominant chondrodysplasia punctata
  • Chondrodysplasia punctata, X-linked dominant, 302960
OMIM
300205
Clinvar variants
Variants in EBP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ebp has been classified as Green List (High Evidence).

20 Jul 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: EBP were set to

17 Dec 2019, 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 Skeletal dysplasia. Sources: UKGTN,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green 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) Phenotypes for gene: EBP were set to MEND syndrome; CDPXLD; MEND syndrome-300960 XLR.; X-linked dominant chondrodysplasia punctata; Chondrodysplasia punctata, X-linked dominant, 302960