Clefting
Gene: BMP4
More than 3 cases reported in PMID 19249007, however, unaffected parents of the proband in several cases also had the variant (supplementary table). It is a confirmed DD gene for OROFACIAL CLEFT 11, however the publication provided is PMID 19249007. Seems to be a risk factor for non-syndromic cleft lip with or without cleft palate.Created: 31 May 2017, 1:52 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
MICROPHTHALMIA, SYNDROMIC 6; MCOPS6, OROFACIAL CLEFT 11; OFC11
Publications
Comment on list classification: Changed status from Amber to Red- association studies only and from comments from expert reviewer and in-house clinical team.Created: 20 Mar 2017, 10:28 a.m.
The BMP4 gene has been suggested as a candidate gene for non-syndromic CL/CLP and CP because of its role in the regulation of skeletal development including cartilage and bone formation during craniofacial and limb development (PMID:15694398).
Several association studies have been conducted across different populations to identify genetic variants of the BMP4 gene which could be associated in the pathogenesis of non-syndromic CL/CLP or CP in humans (PMID: 21331089,18771417,19249007,19839778). After in house clinical team review of this gene, it was noted the evidence only came only from association studies, therefore this gene should be red or amber, as a variant in this gene would not provide a diagnosis. Changed status from Amber to Red.
Created: 20 Mar 2017, 10:27 a.m.
Publications
Victorian Clinical Genetics Services was added to BMP4. Panel: Clefting Phenotypes for gene BMP4 were set to Orofacial cleft 11, 600625, Cleft Lip with or without Cleft Palate, Orofacial Cleft, Cleft lip with or without cleft palate, non syndromic, 11, MICROPHTHALMIA, SYNDROMIC 6, MCOPS6, OROFACIAL CLEFT 11, OFC11, Cleft lip
Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
BMP4 was added to Cleftingpanel. Source: Expert Review Amber
This gene has been classified as Red List (Low Evidence).
Phenotypes for gene BMP4 were set to Orofacial cleft 11, 600625;Cleft Lip with or without Cleft Palate; Orofacial Cleft; Cleft lip with or without cleft palate, non syndromic, 11
BMP4 was added to Cleftingpanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene BMP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
BMP4 was created by oniblock
BMP4 was added to Cleftingpanel. Sources: Radboud University Medical Center, Nijmegen