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  2. Anophthalmia_Microphthalmia_Coloboma
  3. BMP3
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Anophthalmia_Microphthalmia_Coloboma

Gene: BMP3

Amber List (moderate evidence)
BMP3 (bone morphogenetic protein 3)
EnsemblGeneIds (GRCh38): ENSG00000152785
EnsemblGeneIds (GRCh37): ENSG00000152785
OMIM: 112263, Gene2Phenotype
BMP3 is in 3 panels

1 review

Seb Lunke (Victorian Clinical Genetics Services)

I don't know

Single missense variant identified segregating with disease following WES screen in a family with coloboma and/or microphthalmia in BMP3. Two additional unrelated patients identified with different missense in BMP3. Pathogenicity however largely on in-silicos, with one of the 3 missense having 29 hets in gnomAD.

Additional functional work in bmp3 -/- zebra fish and some supporting evidence but not conclusive.
Sources: Literature
Created: 4 Aug 2022, 6:34 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
coloboma, MONDO:0001476; microphthalmia, MONDO:0021129

Publications

Created: 4 Aug 2022, 6:34 a.m.

Panel version: 1.25

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • coloboma, MONDO:0001476
  • microphthalmia, MONDO:0021129
OMIM
112263
Clinvar variants
Variants in BMP3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Aug 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bmp3 has been classified as Amber List (Moderate Evidence).

4 Aug 2022, Gel status: 2

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: bmp3 has been classified as Amber List (Moderate Evidence).

4 Aug 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bmp3 has been classified as Amber List (Moderate Evidence).

4 Aug 2022, Gel status: 1

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

Seb Lunke (Victorian Clinical Genetics Services)

gene: BMP3 was added gene: BMP3 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature Mode of inheritance for gene: BMP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BMP3 were set to 35089417 Phenotypes for gene: BMP3 were set to coloboma, MONDO:0001476; microphthalmia, MONDO:0021129 Review for gene: BMP3 was set to AMBER