Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: BMP4

BMP4 (bone morphogenetic protein 4)
EnsemblGeneIds (GRCh38): ENSG00000125378
EnsemblGeneIds (GRCh37): ENSG00000125378
OMIM: 112262, Gene2Phenotype
BMP4 is in 18 panels

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

CSS doesn't appear to be a feature of microphthalmia, though there are cranial abnomrlaities inc small brain and facial clefting (OMIM). On Blueprint genetics CSS panel. ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Phenotypes
Microphthalmia, syndromic type 6- 607932; orofacial cleft

Created: 5 Mar 2019, 11:33 a.m.

Panel version: 1.47

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: BMP4; Suggested initial gene rating: red
Created: 5 Mar 2019, 11:21 a.m.

Created: 5 Mar 2019, 11:21 a.m.

Panel version: 1.46

Details

Sources

NHS GMS

Phenotypes

orofacial cleft
Microphthalmia, syndromic type 6 607932

OMIM

112262

Clinvar variants

Variants in BMP4

Penetrance

None

Panels with this gene

History Filter Activity

11 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes orofacial cleft; Microphthalmia, syndromic type 6 607932 for gene: BMP4

5 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: BMP4 was added gene: BMP4 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: BMP4 was set to

Rare syndromic craniosynostosis or isolated multisuture synostosis Gene: BMP4