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 19 panels

1 review

Ivone Leong (Genomics England Curator)

Red List (low evidence)

BMP4 is confirmed to be associated with the listed phenotypes in OMIM and Gene2Phenotypes; however, there is only one reported case of a patient with pituitary hormone deficiency with a missense variant in the BMP4 gene. In silico prediction programs suggested that it is pathogenic; however, there were no functional studies performed.
Created: 10 Dec 2018, 3:10 p.m.

History Filter Activity

30 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: BMP4 is confirmed to be associ

8 Jan 2019, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: bmp4 has been classified as Red List (Low Evidence).

10 Dec 2018, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: BMP4 were set to

7 Dec 2018, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: BMP4 was added gene: BMP4 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: BMP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: BMP4 were set to Microphthalmia, syndromic 6 (607932)