BMP3:Ensemblv90

bone morphogenetic protein 3
OMIM: 112263, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber BMP3 in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 1.53

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • coloboma, MONDO:0001476
  • microphthalmia, MONDO:0021129

Amber BMP3 in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • coloboma, MONDO:0001476
  • microphthalmia, MONDO:0021129

Amber BMP3 in Fetal anomalies


Version 1.482

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • coloboma, MONDO:0001476
  • microphthalmia, MONDO:0021129

Amber BMP3 in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • coloboma, MONDO:0001476
  • microphthalmia, MONDO:0021129