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Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: BMP4

Red List (low evidence)

BMP4 (bone morphogenetic protein 4)
EnsemblGeneIds (GRCh38): ENSG00000125378
EnsemblGeneIds (GRCh37): ENSG00000125378
OMIM: 112262, Gene2Phenotype
BMP4 is in 19 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.

Microphthalmia, syndromic type 6- 607932; orofacial cleft

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.

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