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Pituitary hormone deficiency

Gene: BMP2

Red List (low evidence)
BMP2 (bone morphogenetic protein 2)
EnsemblGeneIds (GRCh38): ENSG00000125845
EnsemblGeneIds (GRCh37): ENSG00000125845
OMIM: 112261, Gene2Phenotype
BMP2 is in 7 panels

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Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies (617877)
OMIM
112261
Clinvar variants
Variants in BMP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: There is only one reported cas

10 Dec 2018, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: BMP2 were set to

10 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: BMP2 was added gene: BMP2 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center, Nijmegen,Literature Mode of inheritance for gene: BMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: BMP2 were set to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies (617877)