Pituitary hormone deficiency

Gene: BMP4

Red List (low evidence)

BMP4 (bone morphogenetic protein 4)
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

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)