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Fetal anomalies

Gene: BMPER

Green List (high evidence)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Diaphanospondylodysostosis, MIM#608022
OMIM
608699
Clinvar variants
Variants in BMPER
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

9 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BMPER were changed from DIAPHANOSPONDYLODYSOSTOSIS to Diaphanospondylodysostosis, MIM#608022

9 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BMPER were set to

24 Oct 2021, 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 Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: BMPER was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BMPER were set to DIAPHANOSPONDYLODYSOSTOSIS