Chondrodysplasia punctata
Gene: EBP
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
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.
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
This gene has been classified as Green List (High Evidence).
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)
Phenotypes for EBP were set to Chondrodysplasia punctata, X-linked dominant, 302960; X-linked dominant chondrodysplasia punctata; MEND syndrome
Mode of inheritance for EBP was changed to Other - please specifiy in evaluation comments
This gene has been classified as Green List (High Evidence).
EBP was added to Chondrodysplasia punctatapanel. Sources: Radboud University Medical Center, Nijmegen
EBP was added to Chondrodysplasia punctatapanel. Sources: UKGTN