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Chondrodysplasia punctata

Gene: EBP

Green List (high evidence)

EBP (emopamil binding protein (sterol isomerase))
EnsemblGeneIds (GRCh38): ENSG00000147155
EnsemblGeneIds (GRCh37): ENSG00000147155
OMIM: 300205, Gene2Phenotype
EBP is in 17 panels

3 reviews

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Hemizygous mutations in males are usually lethal; exceptions include mosaic mutations or males with >1 X chromosome. Females with heterozygous mutations are affected (ie X-linked dominant inheritance).
Created: 6 Apr 2016, 9:53 p.m.

Mode of inheritance
Other

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Monoallelic mutations in females may cause MEND, biallelic mutations in females may cause chondrodysplasia punctata 2.
Created: 1 Mar 2016, 9:57 a.m.
Comment on mode of inheritance: See comments from reviewer. MEND and chondrodysplasia punctata 2, X-linked have some overlapping features.
Created: 29 Feb 2016, 5:35 p.m.
Comment on list classification: Green review from reviewer, and is a confirmed DD gene for chondrodysplasia punctata 2, X-linked.
Created: 29 Feb 2016, 5:34 p.m.

Helen Savage (Congenica Ltd)

Green List (high evidence)

X-linked dominant chondrodysplasia punctata is dominantly inherited.
MEND syndrome is recessively inherited.
Created: 23 Feb 2016, 4:01 p.m.

Mode of inheritance
Other

Phenotypes
X-linked dominant chondrodysplasia punctata; MEND syndrome

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
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Chondrodysplasia punctata, X-linked dominant, 302960
  • X-linked dominant chondrodysplasia punctata
  • MEND syndrome
OMIM
300205
Clinvar variants
Variants in EBP
Penetrance
Complete
Panels with this gene

History Filter Activity

1 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Mar 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for EBP was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

29 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for EBP were set to Chondrodysplasia punctata, X-linked dominant, 302960; X-linked dominant chondrodysplasia punctata; MEND syndrome

29 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for EBP was changed to Other - please specifiy in evaluation comments

29 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 May 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

EBP was added to Chondrodysplasia punctatapanel. Sources: Radboud University Medical Center, Nijmegen

6 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

EBP was added to Chondrodysplasia punctatapanel. Sources: UKGTN