Ocular coloboma

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

2 reviews

David FitzPatrick (University of Edinburgh)

Red List (low evidence)

In our unpublished data from the Edinburgh eye malformation cohort we have seen several BMP4 mutations that do not segregate with the coloboma in familial cases. Some of the original reported cases had deletions that also encompassed OTX2 so that was probably the cause of the problem
Created: 2 Feb 2017, 10:12 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Coloboma

Mode of pathogenicity
Other

Alice Gardham (Genomics England)

Green List (high evidence)

Recognised as causing coloboma on G2P
Created: 16 Nov 2016, 1:55 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Microphthalmia, syndromic 6, 607932

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microphthalmia, syndromic 6, 607932
OMIM
112262
Clinvar variants
Variants in BMP4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Feb 2017, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on 6th February 2016 by Alice Gardham

16 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

16 Nov 2016, Gel status: 4

Added New Source

Alice Gardham (Genomics England)

BMP4 was added to Ocular colobomapanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN

16 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

BMP4 was created by agardham