Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Limb disorders

Gene: BMP4

Green List (high evidence)

BMP4 (bone morphogenetic protein 4)
EnsemblGeneIds (GRCh38): ENSG00000125378
EnsemblGeneIds (GRCh37): ENSG00000125378
OMIM: 112262, Gene2Phenotype
BMP4 is in 19 panels

1 review

Eleanor Williams (Genomics England Curator)

Comment when marking as ready: rated green as 3 cases reported
Created: 17 Oct 2018, 2:44 p.m.
Comment on list classification: 3 cases with plausible disease causing variants in the gene have been reported.
Created: 17 Oct 2018, 2:40 p.m.
BMP4 is associated with Microphthalmia, syndromic 6 in OMIM and Gene2Phenotype (confirmed). This syndrome is characterized by microphthalmia with brain and digital anomalies.

OMIM reports the Bakrania et al. (2008)(PMID: 18252212) found a kindred in which members of 3 generations had eye, brain, and digit developmental anomalies including postaxial polydactyly related to a frameshift mutation in the BMP4 gene (222del2AG, S76fs104X).

Bakrania et al also report a a patient with eye, brain, and digit developmental anomalies (low-placed thumbs) with a 278A-G transition in the BMP4 gene that resulted in a glu93-to-gly substitution (E93G)

Reis et al. (2011) (PMID: 21340693) report a Caucasian girl with Microphthalmia, syndromic 6 and 1-bp duplication in exon 2 of the BMP4 gene (171dupC) . She did not show any limb abnormalities, but her maternal half sister was found to be compound heterozygous for 171dupC and a 362A-G transition in exon 2 of BMP4, resulting in a his121-to-arg (H121R; 112262.0009) substitution at a conserved residue did show bilateral postaxial polydactyly of the hands among other features.
Created: 17 Oct 2018, 2:35 p.m.

History Filter Activity

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Eleanor Williams: BMP4 is associated with Microp

17 Oct 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: bmp4 has been classified as Green List (High Evidence).

17 Oct 2018, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: BMP4 were changed from Polydactyly to Polydactyly; Microphthalmia, syndromic 6 607932

17 Oct 2018, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: BMP4 were set to

17 Oct 2018, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: BMP4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Oct 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: bmp4 has been classified as Green List (High Evidence).

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

BMP4 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

BMP4 was created by Ellen McDonagh