Retinal disorders
Gene: BMP4
BMP4 (bone morphogenetic protein 4)
EnsemblGeneIds (GRCh38): ENSG00000125378
EnsemblGeneIds (GRCh37): ENSG00000125378
OMIM: 112262, Gene2Phenotype
BMP4 is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000125378
EnsemblGeneIds (GRCh37): ENSG00000125378
OMIM: 112262, Gene2Phenotype
BMP4 is in 18 panels
1 review
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
any reports?Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Details
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Eye Disorders
- OMIM
- 112262
- Clinvar variants
- Variants in BMP4
- Penetrance
- Complete
- Panels with this gene
-
- CAKUT
- Monogenic hearing loss
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Deafness and congenital structural abnormalities
- Clefting
- Ocular coloboma
- Limb disorders
- Structural eye disease
- Stickler syndrome
- Retinal disorders
- Unexplained kidney failure in young people
- Intellectual disability
- Unexplained young onset end-stage renal disease - additional genes
- Fetal anomalies
- DDG2P
- Pituitary hormone deficiency
- Glaucoma (developmental)
- Anophthalmia or microphthalmia
History Filter Activity
3 Apr 2019, Gel status: 1
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to BMP4.
9 Mar 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)BMP4 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red
9 Mar 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)BMP4 was created by ellenmcdonagh