Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

Gene: BMPER

Red List (low 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)

Red List (low evidence)

Perinatal lethal skeletal dysplasia, not appropriate for this panel.
Created: 29 Jan 2020, 10:43 a.m. | Last Modified: 29 Jan 2020, 10:43 a.m.
Panel Version: 0.1769
Skeletal dysplasia with neurological features including brain malformations and intellectual disability.
Created: 24 Nov 2019, 2:41 a.m. | Last Modified: 24 Nov 2019, 2:41 a.m.
Panel Version: 0.5

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Diaphanospondylodysostosis, MIM#608022

Details

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

History Filter Activity

29 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bmper has been classified as Red List (Low Evidence).

29 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bmper has been classified as Red List (Low Evidence).

6 Dec 2019, 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).

6 Dec 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 Dec 2019, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: BMPER was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BMPER was added gene: BMPER was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: BMPER was set to Unknown