Skeletal dysplasia
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: 9 Nov 2021, 5:29 a.m. | Last Modified: 9 Nov 2021, 5:29 a.m.

Panel Version: 0.9682

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Diaphanospondylodysostosis, MIM#608022

Publications

Created: 24 Nov 2019, 2:43 a.m.

Panel version: Imported from Mendeliome panel version 0.9682

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review Green
NHS GMS
Expert list
Victorian Clinical Genetics Services

Phenotypes

Diaphanospondylodysostosis 608022

OMIM

608699

Clinvar variants

Variants in BMPER

Penetrance

None

Panels with this gene

History Filter Activity

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: BMPER was added gene: BMPER was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: BMPER was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BMPER were set to Diaphanospondylodysostosis 608022

Skeletal dysplasia Gene: BMPER