AMBRA1:Ensemblv90

autophagy and beclin 1 regulator 1
OMIM: 611359, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green AMBRA1 in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neural tube defects, susceptibility to, MONDO:0020705, AMBRA1-related

Green AMBRA1 in Fetal anomalies


Version 1.482

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Neural tube defects

Green AMBRA1 in Fetal anomalies


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Neural tube defects