Anophthalmia or microphthalmia
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
2 reviews
David FitzPatrick (University of Edinburgh)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Damian Smedley (Genomics England Curator)
Comment when marking as ready: Known expert reviewCreated: 10 May 2016, 11:35 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Phenotypes
-
- BMP4-Related Syndromic Microphthalmia
- Microphthalmia, syndromic 6, 607932Orofacial cleft 11, 600625
- 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
10 May 2016, Gel status: 4
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
28 Apr 2015, Gel status: 4
Added New Source
GEL ()BMP4 was added to Anophthalmia/microphthalmiapanel. Sources: Radboud University Medical Center, Nijmegen
28 Apr 2015, Gel status: 3
Added New Source
GEL ()BMP4 was added to Anophthalmia/microphthalmiapanel. Sources: UKGTN
28 Apr 2015, Gel status: 2
Added New Source
GEL ()BMP4 was added to Anophthalmia/microphthalmiapanel. Sources: Illumina TruGenome Clinical Sequencing Services
28 Apr 2015, Gel status: 1
Added New Source
GEL ()BMP4 was added to Anophthalmia/microphthalmiapanel. Sources: Emory Genetics Laboratory