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  3. BMP6
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Metal Metabolism Disorders

Gene: BMP6

Green List (high evidence)
BMP6 (bone morphogenetic protein 6)
EnsemblGeneIds (GRCh38): ENSG00000153162
EnsemblGeneIds (GRCh37): ENSG00000153162
OMIM: 112266, Gene2Phenotype
BMP6 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 9 individuals reported with iron overload and variants in this gene.
Created: 22 Jan 2021, 7:22 a.m. | Last Modified: 22 Jan 2021, 7:22 a.m.
Panel Version: 0.0

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
{Iron overload, susceptibility to} 620121

Publications

Created: 22 Jan 2021, 7:22 a.m.
Last Modified: 22 Jan 2021, 7:22 a.m.
Panel version: 0.30

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS Genomic Medicine Service
  • Genomics England PanelApp
Phenotypes
  • {Iron overload, susceptibility to} 620121
OMIM
112266
Clinvar variants
Variants in BMP6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Nov 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BMP6 were changed from Iron overload, mild to moderate to {Iron overload, susceptibility to} 620121

22 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bmp6 has been classified as Green List (High Evidence).

22 Jan 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BMP6 were changed from 112266 Mild to moderate iron overload; Iron overload; NA IRON OVERLOAD to Iron overload, mild to moderate

22 Jan 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BMP6 was added gene: BMP6 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service Mode of inheritance for gene: BMP6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BMP6 were set to 26582087 Phenotypes for gene: BMP6 were set to 112266 Mild to moderate iron overload; Iron overload; NA IRON OVERLOAD