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  2. Deafness and congenital structural abnormalities
  3. BMP5
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Deafness and congenital structural abnormalities

Gene: BMP5

Red List (low evidence)
BMP5 (bone morphogenetic protein 5)
EnsemblGeneIds (GRCh38): ENSG00000112175
EnsemblGeneIds (GRCh37): ENSG00000112175
OMIM: 112265, Gene2Phenotype
BMP5 is in 1 panel

6 reviews

Muriel Holder (Clinical Genetics, Guy's Hospital)

I don't know

Not enough clinical evidence for pathogenicity
Created: 17 Oct 2016, 12:38 p.m.

Mode of inheritance
Unknown

Mode of pathogenicity
Other

Created: 17 Oct 2016, 12:38 p.m.

Panel version: 0.115

Sarah Leigh (Genomics England Curator)

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 publication
Created: 14 Sep 2016, 12:40 p.m.
Created: 14 Sep 2016, 12:40 p.m.

Panel version: Imported from "Familial hemifacial microsomia" panel version 0.75

Ana Beleza (Bristol Regional Genetics Service)

I don't know

"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

Created: 13 Sep 2016, 7:41 a.m.

Panel version: Imported from "Familial hemifacial microsomia" panel version 0.33

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Red on the Bilateral Microtia Version 1.10 panel.
Created: 12 Sep 2016, 2:53 p.m.
Created: 12 Sep 2016, 2:53 p.m.

Panel version: Imported from "Ear malformations with hearing impairment" panel version 0.76

Jun Shen (Harvard Medical School)

Red List (low evidence)

BMP5 is not associated with a phenotype entry in OMIM.
Created: 9 Feb 2016, 5:16 p.m.

Publications

Created: 9 Feb 2016, 5:16 p.m.

Panel version: Imported from "Bilateral microtia" panel version 1.0

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

Created: 3 Feb 2016, 4:02 p.m.

Panel version: Imported from "Bilateral microtia" panel version 0.0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
  • Expert list
Phenotypes
  • Bilateral Microtia
  • Congenital microtia
OMIM
112265
Clinvar variants
Variants in BMP5
Penetrance
Complete
Panels with this gene

History Filter Activity

26 Oct 2016, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

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.

14 Oct 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

14 Oct 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

5 Oct 2016, Gel status: 1

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

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

5 Oct 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

BMP5 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Red

5 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

BMP5 was created by sleigh