Glaucoma (developmental)
Gene: BMP4
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
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
27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
BMP4 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory