Deafness and congenital structural abnormalities
Gene: BMP5
Not enough clinical evidence for pathogenicityCreated: 17 Oct 2016, 12:38 p.m.
Mode of inheritance
Unknown
Mode of pathogenicity
Other
Comment when marking as ready: Not associated with phenotype in OMIM nor G2P / DD. One variant reported four cases (no information provided about relatedness).Created: 14 Sep 2016, 12:42 p.m.
Comment on mode of inheritance: According to reporting publicationCreated: 14 Sep 2016, 12:40 p.m.
"A heterozygosity on 196 TTT-->ACA resulting in missense mutation was detected in four patients, causing the amino acid to change from phenylalanine to threonine in BMP5 maternal peptide gene. However, no mutations were detected in the control subjects."Created: 13 Sep 2016, 7:41 a.m.
Mode of inheritance
Unknown
Phenotypes
Congenital microtia
Publications
Comment on list classification: Red on the Bilateral Microtia Version 1.10 panel.Created: 12 Sep 2016, 2:53 p.m.
26th Oct 2016: the panels Bilateral microtia version 1.10, Ear malformations with hearing impairment version 0.105, and familial hemifacial microsomia version 0.149 gene panels were combined to create this panel. The panel was revised due to expert review, further curation of evidence and internal clinical evaluation. Ready for promotion to version 1.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
BMP5 was added to Deafness and congenital structural abnormalitiespanel. Source: Literature Model of inheritance for gene BMP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BMP5 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Red
BMP5 was created by sleigh