This Panel is marked as Deleted
Kidneyome_SuperPanel_VCGS
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
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- CAKUT
- 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
28 Jan 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: BMP4 was added gene: BMP4 was added to Kidneyome_SuperPanel_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: BMP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BMP4 were set to 24131739; 23641053; 30568244; 19685083 Phenotypes for gene: BMP4 were set to CAKUT