Glaucoma (developmental)

Gene: BMP4

I don't know

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

• 18252212, 2427285

Green List (high evidence)

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: Amber

Created: 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

• 18252212
• 2427285

Variants in this GENE are reported as part of current diagnostic practice