Stickler syndrome

Gene: BMP4

Amber List (moderate evidence)

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

1 review

Anna de Burca (Genomics England Curator)

I don't know

Submitted by Alan Richards on behalf of East Mids & East of England Genomic Laboratory Hub.
Sources: Expert list
Created: 5 Apr 2019, 4:41 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

History Filter Activity

3 Mar 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: BMP4 were changed from to Stickler syndrome, MONDO:0019354

5 Apr 2019, Gel status: 2

Entity classified by Genomics England curator

Anna de Burca (Genomics England Curator)

Gene: bmp4 has been classified as Amber List (Moderate Evidence).

5 Apr 2019, Gel status: 1

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

Anna de Burca (Genomics England Curator)

gene: BMP4 was added gene: BMP4 was added to Stickler syndrome. Sources: Expert list Mode of inheritance for gene: BMP4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BMP4 were set to 25663169; 30362103 Review for gene: BMP4 was set to AMBER