Chondrodysplasia punctata
Gene: EBPEnsemblGeneIds (GRCh38): ENSG00000147155
EnsemblGeneIds (GRCh37): ENSG00000147155
OMIM: 300205, Gene2Phenotype
EBP is in 15 panels
3 reviews
Sian Ellard (University of Exeter Medical School)
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)
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
-
- 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
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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)
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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for EBP was changed to Other - please specifiy in evaluation comments
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)EBP was added to Chondrodysplasia punctatapanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
Eik Haraldsdottir (Genomics England)EBP was added to Chondrodysplasia punctatapanel. Sources: UKGTN