Structural eye disease
Gene: BMP4EnsemblGeneIds (GRCh38): ENSG00000125378
EnsemblGeneIds (GRCh37): ENSG00000125378
OMIM: 112262, Gene2Phenotype
BMP4 is in 18 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
DB 3 unrelated families with BMP4 variants/CNVS only affecting BMP4 (Bakrania et al. 2008/Reis et al. 2011) - note that another family published in the Bakrania paperwith p.E93G variant now has been diagnosed with Kabuki syndome/KMT2D variant. Variable penetrance observed in all families. An early mouse model showed absence of lens induction (Kuruta et al. 1998)Created: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Orofacial cleft 11, 600625; BMP4-Related Syndromic Microphthalmia; Microphthalmia, syndromic 6, 607932
Publications
Ivone Leong (Genomics England Curator)
As discussed in the GMS Structural eye disease panel webex call 24th April 2019: It was agreed that there is enough evidence to rate this gene green.Created: 24 Apr 2019, 12:33 p.m.
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB 3 unrelated families with BMP4 variants/CNVS only affecting BMP4 (Bakrania et al. 2008/Reis et al. 2011) - note that another family published in the Bakrania paperwith p.E93G variant now has been diagnosed with Kabuki syndome/KMT2D variant. Variable penetrance observed in all families. An early mouse model showed absence of lens induction (Kuruta et al. 1998).
Gene rating: AmberCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Orofacial cleft 11, 600625; BMP4-Related Syndromic Microphthalmia; Microphthalmia, syndromic 6, 607932
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Orofacial cleft 11, 600625
- Microphthalmia, syndromic 6, 607932
- BMP4-Related Syndromic Microphthalmia
- OMIM
- 112262
- Clinvar variants
- Variants in BMP4
- Penetrance
- None
- Publications
- Panels with this gene
-
- Structural eye disease
- DDG2P
- Glaucoma (developmental)
- Clefting
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Limb disorders
- Retinal disorders
- Fetal anomalies
- Stickler syndrome
- Monogenic hearing loss
- CAKUT
- Anophthalmia or microphthalmia
- Deafness and congenital structural abnormalities
- Intellectual disability
- Pituitary hormone deficiency
- Ocular coloboma
- Unexplained young onset end-stage renal disease - additional genes
- Unexplained kidney failure in young people
History Filter Activity
Added New Source, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to BMP4. Added phenotypes Orofacial cleft 11, 600625; Microphthalmia, syndromic 6, 607932; BMP4-Related Syndromic Microphthalmia for gene: BMP4 Publications for gene BMP4 were changed from 18252212, 2427285 to 18252212; 2427285
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: BMP4 was added gene: BMP4 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: BMP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BMP4 were set to 18252212, 2427285 Phenotypes for gene: BMP4 were set to Orofacial cleft 11, 600625; BMP4-Related Syndromic Microphthalmia; Microphthalmia, syndromic 6, 607932