Skeletal Dysplasia_Fetal
Gene: BMPER

BMPER (BMP binding endothelial regulator)
EnsemblGeneIds (GRCh38): ENSG00000164619
EnsemblGeneIds (GRCh37): ENSG00000164619
OMIM: 608699, Gene2Phenotype
BMPER is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Perinatal lethal skeletal dysplasia.

The primary skeletal characteristics include small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent craniofacial features include ocular hypertelorism, epicanthal folds, depressed nasal bridge with short nose, and low-set ears. The most commonly described extraskeletal finding is nephroblastomatosis with cystic kidneys, but other visceral findings have been described in some cases.

At least 5 unrelated families reported.
Created: 29 Jan 2020, 10:43 a.m. | Last Modified: 9 Nov 2021, 5:28 a.m.

Panel Version: 0.331

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Diaphanospondylodysostosis, MIM#608022

Publications

Created: 24 Nov 2019, 2:41 a.m.
Last Modified: 9 Nov 2021, 5:28 a.m.
Panel version: Imported from Fetal anomalies panel version 0.331

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Genomics England PanelApp
Genetic Health Queensland
Victorian Clinical Genetics Services
Melbourne Genomics Health Alliance Perinatal Autopsy Flagship

Phenotypes

Diaphanospondylodysostosis, MIM#608022

OMIM

608699

Clinvar variants

Variants in BMPER

Penetrance

None

Publications

Panels with this gene