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
-
- 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
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