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Gene: BMPER

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

1 review

Lauren Thomas (VIctorian Clinical Genetics Services)

Green List (high evidence)

Diaphanospondylodysostosis is a rare perinatal lethal skeletal disorder. 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.

HGNC approved symbol/name: BMPER
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes (at least 5)
Created: 21 Nov 2024, 3:40 a.m. | Last Modified: 21 Nov 2024, 3:40 a.m.

Panel Version: 1.581

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Diaphanospondylodysostosis, MIM# 608022

Publications

Created: 21 Nov 2024, 3:40 a.m.
Last Modified: 21 Nov 2024, 3:40 a.m.
Panel version: 1.581

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Mackenzie's Mission

Phenotypes

Diaphanospondylodysostosis, 608022 (3)

OMIM

608699

Clinvar variants

Variants in BMPER

Penetrance

None

Publications

Panels with this gene

History Filter Activity

28 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: bmper has been classified as Green List (High Evidence).

28 Nov 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: BMPER were set to

1 Jun 2022, 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 Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,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 (3)

Prepair 1000+ Gene: BMPER