Pituitary hormone deficiency
Gene: BMP4
BMP4 (bone morphogenetic protein 4)
EnsemblGeneIds (GRCh38): ENSG00000125378
EnsemblGeneIds (GRCh37): ENSG00000125378
OMIM: 112262, Gene2Phenotype
BMP4 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000125378
EnsemblGeneIds (GRCh37): ENSG00000125378
OMIM: 112262, Gene2Phenotype
BMP4 is in 11 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Genomics England PanelApp
- Phenotypes
-
- Microphthalmia, syndromic 6 (607932)
- OMIM
- 112262
- Clinvar variants
- Variants in BMP4
- Penetrance
- None
- Publications
- Panels with this gene
-
- Anophthalmia_Microphthalmia_Coloboma
- Polydactyly
- Fetal anomalies
- Clefting disorders
- Mendeliome
- Eye Anterior Segment Abnormalities
- Pituitary hormone deficiency
- Intellectual disability syndromic and non-syndromic
- Callosome
- Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
- Pierre Robin Sequence
History Filter Activity
13 Jul 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Seb Lunke (Victorian Clinical Genetics Services)gene: BMP4 was added gene: BMP4 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red Mode of inheritance for gene: BMP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BMP4 were set to 24289245 Phenotypes for gene: BMP4 were set to Microphthalmia, syndromic 6 (607932)